KEGG DISEASE: Inflammatory bowel disease, immunodeficiency, and encephalopathy

KEGG

DISEASE: Inflammatory bowel disease, immunodeficiency, and encephalopathy

Entry

H02669                      Disease

Name

Inflammatory bowel disease, immunodeficiency, and encephalopathy

Description

Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) is a severe infantile inflammatory bowel disease and central nervous system disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. It has been reported that loss-of-function mutations in the TGFB1 cause this disease.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Certain disorders involving the immune system
   4B2Y  Other specified disorders involving the immune system
    H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy

Network

nt06535 Efferocytosis

Gene

TGFB1 [HSA:7040] [KO:K13375]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Kotlarz D, Marquardt B, Baroy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Stromme P, Klein C

Title

Human TGF-beta1 deficiency causes severe inflammatory bowel disease and encephalopathy.

Journal

Nat Genet 50:344-348 (2018)
DOI:10.1038/s41588-018-0063-6

LinkDB

» Japanese version

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