PYLORIC ATRESIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 265950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001561) Polyhydramnios 191 / 7739
2
(HPO:0004399) Congenital pyloric atresia 3 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 sibships, one with related parents, Bar-Maor et al. (1972) reported 5 cases of pyloric atresia. Others (e.g., Bronsther et al., 1971) have reported familial cases. The pylorus is reduced to a fibrous band or is obstructed ...