HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: HIRSCHSPRUNG DISEASE
MEGACOLON, AGANGLIONIC
AGANGLIONIC MEGACOLON
MGC
HSCR1
HSCR
Number of Symptoms 8
OrphanetNr:
OMIM Id: 142623
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002013) Vomiting 191 / 7739
2
(HPO:0004387) Enterocolitis 7 / 7739
3
(HPO:0003270) Abdominal distention 46 / 7739
4
(HPO:0002019) Constipation 194 / 7739
5
(OMIM) Failure to pass meconium in first 48 hours of life 1 / 7739
6
(OMIM) Absent enteric ganglia beginning at the rectum and extends proximally by varying degrees 1 / 7739
7
(OMIM) Acetylcholinesterase staining reveals nerve trunk hypertrophy 1 / 7739
8
(OMIM) Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel 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 Boggs and Kidd (1958) described sibs with absence of the innervation of the entire intestinal tract below the ligament of Treitz. Bodian and Carter (1963) suggested that cases of Hirschsprung disease with extensive involvement of the gut, such ...
Genotype-Phenotype Correlations OMIM Kashuk et al. (2005) reported the alignment of the human RET protein sequence with the orthologous sequences of 12 nonhuman vertebrates, their comparative analysis, the evolutionary topology of the RET protein, and predicted tolerance for all published missense ...
Molecular genetics OMIM Edery et al. (1994) presented strong evidence that both the short-segment (accounting for 80% of cases of Hirschsprung disease) and long-segment (accounting for 20% of cases) forms of aganglionic megacolon are fundamentally the same disorder due to mutations ...