Details of Disease

General Information of Disease (ID: DISNUH76)

Disease Name Multiple intestinal atresia
Synonyms
gastrointestinal defects and immunodeficiency syndrome; CID-MIA/early-onset IBD; combined immunodeficiency-enteropathy spectrum; intestinal atresia, multiple; intestinal atresia multiple; intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency; GIDID; familial intestinal polyatresia syndrome; multiple intestinal atresia; multiple gastrointestinal atresias
Definition
A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISCPWH9: Autosomal recessive disease
DISNUH76: Multiple intestinal atresia
Disease Identifiers
MONDO ID
MONDO_0009465
MESH ID
C562441
UMLS CUI
C0220744
OMIM ID
243150
MedGen ID
65090
Orphanet ID
2300
SNOMED CT ID
95472001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MIA TT5HNVS Limited Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIP OTDJ3OSV Strong Genetic Variation [2]
STPG4 OT5K4UFL Strong CausalMutation [3]
TTC7A OTDHLPQM Definitive Autosomal recessive [4]
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References

1 Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.Eur J Med Genet. 2018 Apr;61(4):185-188. doi: 10.1016/j.ejmg.2017.11.014. Epub 2017 Nov 23.
2 Should aip gene screening be recommended in family members of FIPA patients with R16H variant?.Pituitary. 2013 Jun;16(2):238-44. doi: 10.1007/s11102-012-0409-5.
3 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.