Features include always present findings: Failure to thrive in infancy, Limited elbow extension, Hypersplenism, and Short stature and others; and very common findings: Relative macrocephaly, Chronic lung disease, and Enlarged liver (hepatomegaly). 51 total HPO annotations.

ITCH encodes itchy E3 ubiquitin protein ligase (903 aa). Acts as an Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Highest expression in Testis (41.7 TPM) and Nerve Tibial (37.7 TPM).

Syndromic multisystem autoimmune disease due to ITCH deficiency is caused by mutations in the ITCH gene on chromosome 20.

ITCH is classified as a druggable target (Enzyme and Transcription Factor categories) with score 0.0.

Genetic testing for ITCH is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for syndromic multisystem autoimmune disease due to ITCH deficiency has been reported in the published literature.

Phenotype severity distribution: 35 always present features, 3 very common features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for syndromic multisystem autoimmune disease due to ITCH deficiency.

148 publications have been identified in PubMed for syndromic multisystem autoimmune disease due to ITCH deficiency. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (28%), and Epidemiology / Natural History (12%).