Multiple intestinal atresia

General Information (adopted from Orphanet):

Synonyms, Signs: MINAT
FIPA
familial intestinal polyatresia syndrome
Number of Symptoms 26
OrphanetNr: 2300
OMIM Id: 243150
ICD-10: Q43.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic intestinal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
2
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
3
 (HPO:0001537) Umbilical hernia 206 / 7739
4
 (HPO:0002242) Abnormality of the intestine Very frequent [Orphanet] 42 / 7739
5
 (HPO:0100867) Duodenal stenosis Very frequent [Orphanet] 29 / 7739
6
 (HPO:0001539) Omphalocele rare [HPO:skoehler] 102 / 7739
7
 (HPO:0002573) Hematochezia 18 / 7739
8
 (HPO:0002566) Intestinal malrotation rare [HPO:skoehler] 89 / 7739
9
 (HPO:0011100) Intestinal atresia 2 / 7739
10
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
11
 (HPO:0003765) Psoriasis rare [HPO:skoehler] 17 / 7739
12
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
13
 (HPO:0001890) Autoimmune hemolytic anemia rare [HPO:skoehler] 17 / 7739
14
 (HPO:0004430) Severe combined immunodeficiency rare [HPO:skoehler] 16 / 7739
15
 (HPO:0000778) Hypoplasia of the thymus rare [HPO:skoehler] 13 / 7739
16
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Multiple areas of atresia along the small and large intestines 1 / 7739
19
 (OMIM) Intraluminal calcification on prenatal ultrasound or plain abdominal radiographs 1 / 7739
20
 (OMIM) Granulation tissue (in some patients) 1 / 7739
21
 (OMIM) Multiple small luminae with a sieve-like appearance on microscopic examination 1 / 7739
22
 (OMIM) Mucous membrane ulceration (in some patients) 1 / 7739
23
 (OMIM) IgM immunodeficiency (in some patients) 1 / 7739
24
 (OMIM) Cystic adenomatoid malformation, congenital (rare) 1 / 7739
25
 (OMIM) Common bile duct dilation (in some patients) 1 / 7739
26
 (OMIM) Bowel distention on prenatal ultrasound 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary multiple intestinal atresia is a rare, severe congenital disorder in which atresia occurs at various levels throughout the small and large intestines. Surgical outcomes are poor, and the condition is usually fatal within the first month of ...
Clinical Description OMIM Multiple intestinal atresia is likely separate from duodenal atresia (223400) and jejunal atresia (243600) because of the wide distribution of involvement--from stomach to anus (Guttman et al., 1973). Dallaire and Perreault (1974) reported 5 French Canadian patients with ...
Molecular genetics OMIM Samuels et al. (2013) sequenced the exomes of 3 French Canadian probands with multiple intestinal atresia and identified only 1 homozygous variant shared by all 3 patients, a 4-bp deletion in the TTC7A gene (609332.0001), which was confirmed ...
Population genetics OMIM Shen-Schwarz and Fitko (1990) noted that the patients reported by Guttman et al. (1973), Dallaire and Perreault (1974), Martin et al. (1976), Daneman and Martin (1979), and Skoll et al. (1987) were all French Canadian, suggesting an increased ...