Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 15/04/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 22/04/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 29/04/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 06/05/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 13/05/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 20/05/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 27/05/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 03/06/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 10/06/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 17/06/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 24/06/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 01/07/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 08/07/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 15/07/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 22/07/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 29/07/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 05/08/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 12/08/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 19/08/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 26/08/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 02/09/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 09/09/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 16/09/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 23/09/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 30/09/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 07/10/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 14/10/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 21/10/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 28/10/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 04/11/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 18/11/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 25/11/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 02/12/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 09/12/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 16/12/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 23/12/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 30/12/2007

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 06/01/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 13/01/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 20/01/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 27/01/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 03/02/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 10/02/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 17/02/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 24/02/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 02/03/2008

Orphanet database access

Orphanet database access

Orotic aciduria hereditary Direct access to data Summary Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. *Author: Orphanet (June 2006)*. Clinical signs Anaemia Autosomal recessive inheritance Chromosomal rearrangement (de novo) Mental retardation(mild) Metabolism of aminoacids abnormal Abnormal toenails Broad nasal root Chronic inflammatory lung disease Dislocated hip Downslanted fissures Hypertelorism Low set ears Megauretere/hydronephrosis Patent ductus arteriosus Recurrent infections Short foot/brachydactyly of toes Splenomegaly Storage liver disease Update : 09/03/2008

Orphanet database access