MCID: HRS036
MIFTS: 27

Hirschsprung Disease 2

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 2

MalaCards integrated aliases for Hirschsprung Disease 2:

Name: Hirschsprung Disease 2 57 75 29 55 6
Hirschsprung Disease, Susceptibility to, 2 57 13
Hscr2 57 75
Hirschsprung Disease, Type 2 40
Hirschsprung Disease Type 2 53
Aganglionic Megacolon 75
Hirschsprung Disease 73
Mgc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
penetrance of phenotype may be dosage sensitive


HPO:

32
hirschsprung disease 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600155
MedGen 42 C1838564
MeSH 44 D006627

Summaries for Hirschsprung Disease 2

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
hirschsprung disease
aganglionosis (sometimes confined to descending or rectosigmoid colon)


Clinical features from OMIM:

600155

Human phenotypes related to Hirschsprung Disease 2:

32
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 32 HP:0002251

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 29 EDNRB

Anatomical Context for Hirschsprung Disease 2

MalaCards organs/tissues related to Hirschsprung Disease 2:

41
Colon

Publications for Hirschsprung Disease 2

Articles related to Hirschsprung Disease 2:

(show all 20)
# Title Authors Year
1
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
2
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
3
Treatment of aganglionic megacolon mice via neural stem cell transplantation. ( 23512482 )
2013
4
Congenital aganglionic megacolon in Nigerian adults: two case reports and review of the literature. ( 21860150 )
2011
5
Image and diagnosis. Hirschsprung disease (congenital aganglionic megacolon). ( 15040071 )
2003
6
Pattern of aganglionic megacolon in Calabar, Nigeria. ( 12244627 )
2002
7
Intestinal microvillous atrophy in a patient with Down syndrome and aganglionic megacolon. ( 12028658 )
2002
8
Aganglionic megacolon in a young adult. ( 11030252 )
2000
9
Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. ( 8570650 )
1996
10
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. ( 7837258 )
1994
11
Aggregation chimeras demonstrate that the primary defect responsible for aganglionic megacolon in lethal spotted mice is not neuroblast autonomous. ( 8325247 )
1993
12
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). ( 2363434 )
1990
13
Aganglionic megacolon and cleft palate. ( 6580395 )
1983
14
Anorectal myectomy for short aganglionic megacolon. ( 6618563 )
1983
15
Acquired aganglionic megacolon in a premature infant: report of a case. ( 1172231 )
1975
16
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. ( 1124798 )
1975
17
Surgical correction of aganglionic megacolon. ( 4812114 )
1974
18
Aganglionic megacolon in piebald-lethal mice. ( 4129273 )
1974
19
An unusual case of aganglionic megacolon. ( 4819275 )
1974
20
Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon. ( 4772386 )
1973

Variations for Hirschsprung Disease 2

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

75
# 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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDNRB NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys) single nucleotide variant Pathogenic,risk factor rs104894387 GRCh37 Chromosome 13, 78475316: 78475316
2 EDNRB NM_000115.4(EDNRB): c.828G> T (p.Trp276Cys) single nucleotide variant Pathogenic,risk factor 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 EDNRB, 1-BP INS, 878T insertion risk factor
6 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh37 Chromosome 13, 78492540: 78492540
7 EDNRB NM_000115.4(EDNRB): c.169G> A (p.Gly57Ser) single nucleotide variant risk factor rs1801710 GRCh38 Chromosome 13, 77918405: 77918405
8 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh37 Chromosome 13, 78475230: 78475230
9 EDNRB NM_000115.4(EDNRB): c.914G> A (p.Ser305Asn) single nucleotide variant risk factor rs5352 GRCh38 Chromosome 13, 77901095: 77901095
10 EDNRB NM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter) single nucleotide variant risk factor rs267606780 GRCh37 Chromosome 13, 78493708: 78493708
11 EDNRB NM_001201397.1(EDNRB): c.43A> T (p.Lys15Ter) single nucleotide variant risk factor rs267606780 GRCh38 Chromosome 13, 77919573: 77919573
12 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh37 Chromosome 13, 78492734: 78492734
13 EDNRB NM_001201397.1(EDNRB): c.245G> A (p.Arg82Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2070591 GRCh38 Chromosome 13, 77918599: 77918599

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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