Multiple gastrointestinal atresias(FIPA; MINAT; GIDID1)

MedGen UID:: 65090
•Concept ID:: C0220744
•: Congenital Abnormality

Synonyms:	Familial intestinal polyatresia syndrome; Multiple intestinal atresia
SNOMED CT:	Multiple gastrointestinal atresias (95472001); FIPA - Familial intestinal polyatresia syndrome (95472001); Familial intestinal polyatresia syndrome (95472001); Familial multiple-level intestinal atresia (95472001); Hereditary multiple intestinal atresia (95472001); Multiple intestinal atresia (95472001); Hereditary multiple enteric atresia (95472001)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009465
OMIM®:	243150; 609332
Orphanet:	ORPHA2300

Definition

Multiple intestinal atresia is 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. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMultiple gastrointestinal atresias

Non-syndromic intestinal malformation
- Multiple gastrointestinal atresias

Follow this link to review classifications for Multiple gastrointestinal atresias in Orphanet.

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