Details of Disease

General Information of Disease (ID: DIS3B49Y)

Disease Name Syndromic multisystem autoimmune disease due to ITCH deficiency
Synonyms
ADMFD; ITCH E3 ubiquitin ligase deficiency; syndromic multisystem autoimmune disease; autoimmune disease, multisystem, with facial dysmorphism; autoimmune disease, syndromic multisystem; syndromic multisystem autoimmune disease due to ITCH deficiency
Disease Hierarchy
DISYKSRF: Genetic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DIS3B49Y: Syndromic multisystem autoimmune disease due to ITCH deficiency
Disease Identifiers
MONDO ID
MONDO_0013245
UMLS CUI
C3150649
OMIM ID
613385
MedGen ID
461999
Orphanet ID
228426

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITCH TT5SEWD Limited Biomarker [1]
ITCH TT5SEWD Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITCH OTUOMKF5 Strong Autosomal recessive [2]
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References

1 Itch inhibits IL-17-mediated colon inflammation and tumorigenesis by ROR-t ubiquitination.Nat Immunol. 2016 Aug;17(8):997-1004. doi: 10.1038/ni.3488. Epub 2016 Jun 20.
2 Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 2010 Mar 12;86(3):447-53. doi: 10.1016/j.ajhg.2010.01.028. Epub 2010 Feb 18.