Details of Disease

General Information of Disease (ID: DISKPTVU)

• Disease Name: Gastrointestinal defects and immunodeficiency syndrome 1
• Synonyms: intestinal atresia, multiple; CID-MIA/early-onset IBD; combined immunodeficiency-enteropathy spectrum; multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency; FIPA; MINAT; familial intestinal polyatresia syndrome
• Definition: A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood.
• Disease Hierarchy:
  DIS086R2: Gastrointestinal defect and immunodeficiency syndrome
  DIS6SVEE: Syndromic disease
  DISKPTVU: Gastrointestinal defects and immunodeficiency syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0800030
  UMLS CUI: C5680044
  MedGen ID: 1806192
  Orphanet ID: 436252
  SNOMED CT ID: 1197428008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTC7A	OTDHLPQM	Definitive	Autosomal recessive	[1]

References

• [1] Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19.