HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HSCR2
Number of Symptoms 2
OrphanetNr:
OMIM Id: 600155
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002251) Aganglionic megacolon 78 / 7739
2
(OMIM) Absent enteric ganglia along a variable length of intestine 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed ...
Clinical Description OMIM Puffenberger et al. (1992) found a high frequency of Hirschsprung disease in an extended inbred Mennonite kindred. In 49 nuclear families, 56 affected persons were found. In one of these individuals, one or more of the following characteristics ...
Molecular genetics OMIM Puffenberger et al. (1994) studied the endothelin-B receptor gene (EDNRB; 131244), which maps to the same area of chromosome 13 as does the Mennonite Hirschsprung disease, and found point mutations.

Shanske et al. (2001) reviewed 10 ...