Colonic atresia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 1198
OMIM Id: 303650
ICD-10: Q42.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
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:0002250) Abnormality of the large intestine Occasional [Orphanet] 32 / 7739
2
 (HPO:0100867) Duodenal stenosis Frequent [Orphanet] 29 / 7739
3
 (HPO:0003363) Abdominal situs inversus Occasional [Orphanet] 19 / 7739
4
 (HPO:0010448) Colonic atresia 1 / 7739
5
 (HPO:0002244) Abnormality of the small intestine Occasional [Orphanet] 12 / 7739
6
 (HPO:0100016) Abnormality of mesentery morphology Frequent [Orphanet] 7 / 7739
7
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
8
 (HPO:0001543) Gastroschisis Occasional [Orphanet] 11 / 7739
9
 (HPO:0003270) Abdominal distention 46 / 7739
10
 (HPO:0002242) Abnormality of the intestine Very frequent [Orphanet] 42 / 7739
11
 (OMIM) Distended proximal colon 1 / 7739
12
 (OMIM) Blind sigmoid pouch 1 / 7739
13
 (OMIM) Congenital colonic atresia 1 / 7739
14
 (OMIM) Small distal colon 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: