Details of Disease | DrugMAP

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.