HSCR4
MCID: HRS029
MIFTS: 17

Hirschsprung Disease 4 (HSCR4)

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

Aliases & Classifications for Hirschsprung Disease 4

MalaCards integrated aliases for Hirschsprung Disease 4:

Name: Hirschsprung Disease 4 58 76 30 6
Hirschsprung Disease, Susceptibility to, 4 58 13
Hscr4 58 76
Hirschsprung Disease, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on 3 patients with little to no clinical details (last curated january 2011)


Classifications:



External Ids:

OMIM 58 613712
MeSH 45 D006627
MedGen 43 C3150975
SNOMED-CT via HPO 70 204739008 33995003 367495003

Summaries for Hirschsprung Disease 4

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 discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623. (613712)

MalaCards based summary : Hirschsprung Disease 4, is also known as hirschsprung disease, susceptibility to, 4. An important gene associated with Hirschsprung Disease 4 is EDN3 (Endothelin 3). Affiliated tissues include colon, and related phenotype is aganglionic megacolon.

UniProtKB/Swiss-Prot : 76 Hirschsprung disease 4: 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 4

Symptoms & Phenotypes for Hirschsprung Disease 4

Human phenotypes related to Hirschsprung Disease 4:

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

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
hirschsprung disease
short aganglionic segment (sigmoidal, 1 patient)

Clinical features from OMIM:

613712

Drugs & Therapeutics for Hirschsprung Disease 4

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 4

Genetic Tests for Hirschsprung Disease 4

Genetic tests related to Hirschsprung Disease 4:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 4 30 EDN3

Anatomical Context for Hirschsprung Disease 4

MalaCards organs/tissues related to Hirschsprung Disease 4:

42
Colon

Publications for Hirschsprung Disease 4

Variations for Hirschsprung Disease 4

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 4:

76
# Symbol AA change Variation ID SNP ID
1 EDN3 p.Ala224Thr VAR_009079 rs11570351

ClinVar genetic disease variations for Hirschsprung Disease 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EDN3 NM_207034.2: c.262dupG duplication risk factor
2 EDN3 NM_207034.2(EDN3): c.49G> A (p.Ala17Thr) single nucleotide variant risk factor rs11570255 GRCh37 Chromosome 20, 57875916: 57875916
3 EDN3 NM_207034.2(EDN3): c.49G> A (p.Ala17Thr) single nucleotide variant risk factor rs11570255 GRCh38 Chromosome 20, 59300861: 59300861
4 EDN3 NM_207034.2(EDN3): c.670G> A (p.Ala224Thr) single nucleotide variant Likely benign rs11570351 GRCh37 Chromosome 20, 57899467: 57899467
5 EDN3 NM_207034.2(EDN3): c.670G> A (p.Ala224Thr) single nucleotide variant Likely benign rs11570351 GRCh38 Chromosome 20, 59324412: 59324412

Expression for Hirschsprung Disease 4

Search GEO for disease gene expression data for Hirschsprung Disease 4.

Pathways for Hirschsprung Disease 4

GO Terms for Hirschsprung Disease 4

Sources for Hirschsprung Disease 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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