KEGG   DISEASE: Syndromic multisystem autoimmune disease
Entry
H01232                      Disease                                

Name
Syndromic multisystem autoimmune disease
Description
Syndromic multisystem autoimmune disease is characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. It has been reported that human ITCH E3 ubiquitin ligase deficiency causes this disease.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H01232  Syndromic multisystem autoimmune disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H01232  Syndromic multisystem autoimmune disease
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa04144  Endocytosis
Gene
ITCH [HSA:83737] [KO:K05632]
Other DBs
ICD-11: 4A43.Y
OMIM: 613385
Reference
  Authors
Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, Rider NL, Chikwava KR, Cummings OW, Morton DH, Puffenberger EG
  Title
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
  Journal
Am J Hum Genet 86:447-53 (2010)
DOI:10.1016/j.ajhg.2010.01.028

» Japanese version

DBGET integrated database retrieval system