MCID: HRS029
MIFTS: 15

Hirschsprung Disease 4

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 4

MalaCards integrated aliases for Hirschsprung Disease 4:

Name: Hirschsprung Disease 4 57 75 29 6
Hirschsprung Disease, Susceptibility to, 4 57 13
Hscr4 57 75
Hirschsprung Disease, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 613712
MedGen 42 C3150975
MeSH 44 D006627

Summaries for Hirschsprung Disease 4

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 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.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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 29 EDN3

Anatomical Context for Hirschsprung Disease 4

MalaCards organs/tissues related to Hirschsprung Disease 4:

41
Colon

Publications for Hirschsprung Disease 4

Variations for Hirschsprung Disease 4

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

75
# 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(EDN3): c.49G> A (p.Ala17Thr) single nucleotide variant risk factor rs11570255 GRCh37 Chromosome 20, 57875916: 57875916
2 EDN3 NM_207034.2(EDN3): c.49G> A (p.Ala17Thr) single nucleotide variant risk factor rs11570255 GRCh38 Chromosome 20, 59300861: 59300861
3 EDN3 EDN3, 1-BP INS, 262G insertion risk factor

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 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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