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Syndromic multisystem autoimmune disease due to ITCH deficiency

Synonyms
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; Autoimmune disease, syndromic multisystem
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. [from ORDO]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMFD, AIF4, AIP4, NAPP1, ITCH
    Summary: itchy E3 ubiquitin protein ligase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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