HSCR5
MCID: HRS027
MIFTS: 17

Hirschsprung Disease 5 (HSCR5)

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

Aliases & Classifications for Hirschsprung Disease 5

MalaCards integrated aliases for Hirschsprung Disease 5:

Name: Hirschsprung Disease 5 57 29
Hirschsprung Disease, Susceptibility to, 5 57 13
Hscr5 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hirschsprung disease 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 600156
OMIM Phenotypic Series 57 PS142623
MedGen 41 C1970723

Summaries for Hirschsprung Disease 5

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. (600156) (Updated 05-Apr-2021)

MalaCards based summary : Hirschsprung Disease 5, also known as hirschsprung disease, susceptibility to, 5, is related to hirschsprung disease 4 and megacolon. An important gene associated with Hirschsprung Disease 5 is HSCR5 (Hirschsprung Disease, Susceptibility To, 5). Related phenotype is aganglionic megacolon.

Related Diseases for Hirschsprung Disease 5

Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 2 Hirschsprung Disease 5
Hirschsprung Disease 6 Hirschsprung Disease 7
Hirschsprung Disease 8 Hirschsprung Disease 9
Hirschsprung Disease 3 Hirschsprung Disease 4

Diseases related to Hirschsprung Disease 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 4 10.9
2 megacolon 10.9

Symptoms & Phenotypes for Hirschsprung Disease 5

Human phenotypes related to Hirschsprung Disease 5:

31
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 31 HP:0002251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
aganglionic megacolon
absent enteric ganglia along a variable length of intestine

Clinical features from OMIM®:

600156 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hirschsprung Disease 5

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 5

Genetic Tests for Hirschsprung Disease 5

Genetic tests related to Hirschsprung Disease 5:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 5 29

Anatomical Context for Hirschsprung Disease 5

Publications for Hirschsprung Disease 5

Articles related to Hirschsprung Disease 5:

# Title Authors PMID Year
1
Fine mapping of the 9q31 Hirschsprung's disease locus. 57
20361209 2010
2
Hirschsprung disease, associated syndromes and genetics: a review. 57
17965226 2008
3
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 57
10618407 2000
4
Transanal irrigation for intractable faecal incontinence and constipation: outcomes, quality of life and predicting non-adopters. 61
26163087 2015

Variations for Hirschsprung Disease 5

Expression for Hirschsprung Disease 5

Search GEO for disease gene expression data for Hirschsprung Disease 5.

Pathways for Hirschsprung Disease 5

GO Terms for Hirschsprung Disease 5

Sources for Hirschsprung Disease 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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