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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 15/04/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 22/04/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 29/04/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 06/05/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 13/05/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 20/05/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 27/05/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 03/06/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 10/06/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 24/06/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 01/07/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 08/07/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 15/07/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 22/07/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 29/07/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 05/08/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 12/08/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 19/08/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 26/08/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 02/09/2007

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Porphyria Direct access to data Alias Hereditary coproporphyria Porphyria cutanea tarda, familial type Porphyria cutanea tarda, sporadic type Porphyria, acute intermittent Porphyria, congenital erythropoietic -Gunther disease Protoporphyria, erythropoietic Summary Inherited porphyrias are a group of monogenic, mostly autosomal dominant disorders characterized by the markedly increased formation and excretion of porphyrins and their precursors (delta aminolevulinic acid or ALA, and porphobilinogen or PBG). Each type of porphyria is the result of a dysfunctioning enzyme involved in the biosynthesis of heme. Deficiencies are due to mutations in the corresponding genes, and alleles are often very heterogeneous. Disorders are classified as hepatic or erythropoietic, according to the location of predominant expression of the metabolic defect. Diagnosis of acute attacks is established by measuring urinary ALA and PBG, and treated with heme arginate. * Author: Prof. J.C.Deybach. (Sept. 1999) * Clinical signs Absent/small fingernails Autosomal dominant inheritance Autosomal recessive inheritance Chronic skin infection Decreased skin pigmentation irregular Hairy patch Hepatocellular liver disease Increased skin pigmentation irregular Irregularities:length/shape of fingers Metacarpal anomalies Photosensitivity Porphyria metabolism abnormal Short stature/dwarfism Small hand Vesicles Constipation Neurological functional anomalies Thick skin Vascular hypertension Behaviour disorder/autism Neurological regression/dementia Seizures ( any type) Update : 09/09/2007

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