Clinical Signs and Symptoms
ORPHA:228426 Syndromic multisystem autoimmune disease due to Itch deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal facial shape HP:0001999
- Chronic lung disease HP:0006528
- Failure to thrive in infancy HP:0001531
- Global developmental delay HP:0001263
- Hepatosplenomegaly HP:0001433
- Relative macrocephaly HP:0004482
Very frequent
- Anti-thyroid peroxidase antibody positivity HP:0025379
- Autoimmunity HP:0002960
- Gastrostomy tube feeding in infancy HP:0011471
- Hepatitis HP:0012115
- Hypersplenism HP:0001971
- Hypothyroidism HP:0000821
- Infantile muscular hypotonia HP:0008947
- Proptosis HP:0000520
- Recurrent infections HP:0002719
- Thyroiditis HP:0100646
Frequent
- Abnormal intestine morphology HP:0002242
- Acute hepatic failure HP:0006554
- Anti-glutamic acid decarboxylase antibody positivity HP:0025329
- Antineutrophil antibody positivity HP:0003453
- Camptodactyly HP:0012385
- Choanal atresia HP:0000453
- Cholangitis HP:0030151
- Cirrhosis HP:0001394
- Clinodactyly HP:0030084
- Dolichocephaly HP:0000268
- Frontal bossing HP:0002007
- Insulin receptor antibody positivity HP:0031104
- Low-set, posteriorly rotated ears HP:0000368
- Midface retrusion HP:0011800
- Neutropenia in presence of anti-neutropil antibodies HP:0001904
- Pancytopenia HP:0001876
- Portal hypertension HP:0001409
- Prominent occiput HP:0000269
- Ptosis HP:0000508
- Short chin HP:0000331
- Smooth muscle antibody positivity HP:0003262
- Type I diabetes mellitus HP:0100651
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.