HSCR2
MCID: HRS036
MIFTS: 29

Hirschsprung Disease 2 (HSCR2)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirschsprung Disease 2

MalaCards integrated aliases for Hirschsprung Disease 2:

Name: Hirschsprung Disease 2 58 76 30 56 6
Hirschsprung Disease, Susceptibility to, 2 58 13
Hscr2 58 76
Hirschsprung Disease, Type 2 41
Hirschsprung Disease Type 2 54
Aganglionic Megacolon 76
Hirschsprung Disease 74
Mgc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
penetrance of phenotype may be dosage sensitive


HPO:

33
hirschsprung disease 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 600155
MeSH 45 D006627
MedGen 43 C1838564
UMLS 74 C0019569

Summaries for Hirschsprung Disease 2

OMIM : 58 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 with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623. (600155)

MalaCards based summary : Hirschsprung Disease 2, also known as hirschsprung disease, susceptibility to, 2, is related to hirschsprung disease 1 and ifap syndrome with or without bresheck syndrome. An important gene associated with Hirschsprung Disease 2 is EDNRB (Endothelin Receptor Type B). Affiliated tissues include colon, and related phenotype is aganglionic megacolon.

UniProtKB/Swiss-Prot : 76 Hirschsprung disease 2: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.

Related Diseases for Hirschsprung Disease 2

Graphical network of the top 20 diseases related to Hirschsprung Disease 2:



Diseases related to Hirschsprung Disease 2

Symptoms & Phenotypes for Hirschsprung Disease 2

Human phenotypes related to Hirschsprung Disease 2:

33
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 33 HP:0002251

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
hirschsprung disease
aganglionosis (sometimes confined to descending or rectosigmoid colon)

Clinical features from OMIM:

600155

Drugs & Therapeutics for Hirschsprung Disease 2

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 2

Genetic Tests for Hirschsprung Disease 2

Genetic tests related to Hirschsprung Disease 2:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 2 30 EDNRB

Anatomical Context for Hirschsprung Disease 2

MalaCards organs/tissues related to Hirschsprung Disease 2:

42
Colon

Publications for Hirschsprung Disease 2

Articles related to Hirschsprung Disease 2:

(show top 50) (show all 57)
# Title Authors Year
1
Digital pathology imaging and computer-aided diagnostics as a novel tool for standardization of evaluation of aganglionic megacolon (Hirschsprung disease) histopathology. ( 30175382 )
2019
2
Aganglionic megacolon in the adult. Urgent and surprising cause of intestinal occlusion. ( 30912667 )
2019
3
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
4
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
5
Male-biased aganglionic megacolon in the TashT mouse line due to perturbation of silencer elements in a large gene desert of chromosome 10. ( 25786024 )
2015
6
Treatment of aganglionic megacolon mice via neural stem cell transplantation. ( 23512482 )
2013
7
Congenital aganglionic megacolon in Nigerian adults: two case reports and review of the literature. ( 21860150 )
2011
8
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease. ( 20009762 )
2010
9
Image and diagnosis. Hirschsprung disease (congenital aganglionic megacolon). ( 15040071 )
2003
10
Intestinal microvillous atrophy in a patient with Down syndrome and aganglionic megacolon. ( 12028658 )
2002
11
Pattern of aganglionic megacolon in Calabar, Nigeria. ( 12244627 )
2002
12
Aganglionic megacolon in a young adult. ( 11030252 )
2000
13
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. ( 10090908 )
1999
14
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). ( 9760196 )
1998
15
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. ( 9359036 )
1997
16
Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. ( 8570650 )
1996
17
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. ( 8852658 )
1996
18
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. ( 7837258 )
1994
19
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. ( 8001158 )
1994
20
Aggregation chimeras demonstrate that the primary defect responsible for aganglionic megacolon in lethal spotted mice is not neuroblast autonomous. ( 8325247 )
1993
21
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). ( 2363434 )
1990
22
Aganglionic megacolon and cleft palate. ( 6580395 )
1983
23
Anorectal myectomy for short aganglionic megacolon. ( 6618563 )
1983
24
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. ( 1124798 )
1975
25
Acquired aganglionic megacolon in a premature infant: report of a case. ( 1172231 )
1975
26
Aganglionic megacolon in piebald-lethal mice. ( 4129273 )
1974
27
Surgical correction of aganglionic megacolon. ( 4812114 )
1974
28
An unusual case of aganglionic megacolon. ( 4819275 )
1974
29
Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon. ( 4772386 )
1973
30
Congenital aganglionic megacolon. ( 5030121 )
1972
31
Aganglionic megacolon in adults. ( 5122236 )
1971
32
Rectal myectomy for short segment aganglionic megacolon. ( 5538804 )
1971
33
Histochemical and ultrastructural observations on human aganglionic megacolon. ( 5413637 )
1970
34
Rectal motility patterns in infants and children with aganglionic megacolon. ( 5443336 )
1970
35
Aganglionic megacolon in infancy. ( 5454524 )
1970
36
Genetic considerations in aganglionic megacolon and imperforation. ( 5525473 )
1970
37
Management of congenital aganglionic megacolon. ( 5788353 )
1969
38
Aganglionic megacolon in infancy. ( 5270868 )
1968
39
Congenital aganglionic megacolon (Hirschsprung's disease). Diagnosis, management, and complications. ( 5640594 )
1968
40
Review of the neuromuscular abnormalities in achalasia of the esophagus, congenital pyloric stenosis and congenital aganglionic megacolon. ( 4860118 )
1967
41
Rectal myectomy for aganglionic megacolon. ( 5932614 )
1966
42
EXPERIENCE WITH THE DUHAMEL OPERATION FOR AGANGLIONIC MEGACOLON. ( 14217093 )
1964
43
AGANGLIONIC MEGACOLON. CURRENT SURGICAL TREATMENT. ( 14243316 )
1964
44
Similarities of mechanical intestinal obstruction and aganglionic megacolon in the newborn infant: a review of 64 cases. ( 13836097 )
1960
45
Clinical, surgical and pathologic concepts of Hirschsprung's disease (symptomatic aganglionic megacolon). ( 13684680 )
1960
46
Congenital aganglionic megacolon in adults. A case report. ( 13765268 )
1960
47
Hirschsprung's disease (aganglionic megacolon). ( 13657321 )
1959
48
Aganglionic megacolon in the first year of life. ( 13665183 )
1959
49
Correction of congenital aganglionic megacolon in an adult. ( 13609180 )
1958
50
Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma; co-occurrence of several neural abnormalities. ( 13443655 )
1957

Variations for Hirschsprung Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 2:

76
# Symbol AA change Variation ID SNP ID
1 EDNRB p.Trp276Cys VAR_003471 rs104894387
2 EDNRB p.Arg319Trp VAR_003473 rs200363611
3 EDNRB p.Met374Ile VAR_003474
4 EDNRB p.Pro383Leu VAR_003475

ClinVar genetic disease variations for Hirschsprung Disease 2:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDNRB NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys) single nucleotide variant Pathogenic rs104894387 GRCh37 Chromosome 13, 78475316: 78475316
2 EDNRB NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys) single nucleotide variant Pathogenic rs104894387 GRCh38 Chromosome 13, 77901181: 77901181
3 EDNRB NM_000115.4(EDNRB): c.824G> A (p.Trp275Ter) single nucleotide variant risk factor rs104894389 GRCh37 Chromosome 13, 78475320: 78475320
4 EDNRB NM_000115.4(EDNRB): c.824G> A (p.Trp275Ter) single nucleotide variant risk factor rs104894389 GRCh38 Chromosome 13, 77901185: 77901185
5 EDNRB NM_000115.4(EDNRB): c.877dup (p.Tyr293Leufs) duplication risk factor GRCh37 Chromosome 13, 78475267: 78475267
6 EDNRB NM_000115.4(EDNRB): c.877dup (p.Tyr293Leufs) duplication risk factor GRCh38 Chromosome 13, 77901132: 77901132
7 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
8 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh38 Chromosome 13, 77918405: 77918405
9 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh37 Chromosome 13, 78475230: 78475230
10 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh38 Chromosome 13, 77901095: 77901095
11 EDNRB NM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter) single nucleotide variant risk factor rs267606780 GRCh37 Chromosome 13, 78493708: 78493708
12 EDNRB NM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter) single nucleotide variant risk factor rs267606780 GRCh38 Chromosome 13, 77919573: 77919573
13 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh37 Chromosome 13, 78492734: 78492734
14 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh38 Chromosome 13, 77918599: 77918599
15 EDNRB NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe) single nucleotide variant not provided GRCh37 Chromosome 13, 78477314: 78477314
16 EDNRB NM_001201397.1(EDNRB): c.1048G> T (p.Val350Phe) single nucleotide variant not provided GRCh38 Chromosome 13, 77903179: 77903179

Expression for Hirschsprung Disease 2

Search GEO for disease gene expression data for Hirschsprung Disease 2.

Pathways for Hirschsprung Disease 2

GO Terms for Hirschsprung Disease 2

Sources for Hirschsprung Disease 2

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