MCID: HRS034
MIFTS: 17

Hirschsprung Disease 3

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 3

MalaCards integrated aliases for Hirschsprung Disease 3:

Name: Hirschsprung Disease 3 53 71 28
Hscr3 53 49 71
Hirschsprung Disease, Susceptibility to, 3 53 13
Hirschsprung Disease Type 3 49 69
Hirschsprung Disease Modifier 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 53 613711
MeSH 41 D006627
UMLS 69 C2931739

Summaries for Hirschsprung Disease 3

OMIM : 53 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). Hofstra et al. (1997) discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease. For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623. (613711)

MalaCards based summary : Hirschsprung Disease 3, is also known as hscr3. An important gene associated with Hirschsprung Disease 3 is GDNF (Glial Cell Derived Neurotrophic Factor). Affiliated tissues include colon.

UniProtKB/Swiss-Prot : 71 Hirschsprung disease 3: 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 3

Symptoms & Phenotypes for Hirschsprung Disease 3

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
hirschsprung disease
short-segment aganglionosis (in some patients)
long-segment aganglionosis (in some patients)
malrotation of the gut


Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease 3

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 3

Genetic Tests for Hirschsprung Disease 3

Genetic tests related to Hirschsprung Disease 3:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 3 28 GDNF

Anatomical Context for Hirschsprung Disease 3

MalaCards organs/tissues related to Hirschsprung Disease 3:

38
Colon

Publications for Hirschsprung Disease 3

Variations for Hirschsprung Disease 3

UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease 3:

71
# Symbol AA change Variation ID SNP ID
1 GDNF p.Thr154Ser VAR_009497 rs104893891
2 GDNF p.Ile211Met VAR_018152 rs121918536

ClinVar genetic disease variations for Hirschsprung Disease 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDNF NM_000514.3(GDNF): c.277C> T (p.Arg93Trp) single nucleotide variant risk factor rs36119840 GRCh37 Chromosome 5, 37816112: 37816112
2 GDNF NM_001190468.1(GDNF): c.499G> A (p.Asp167Asn) single nucleotide variant risk factor rs76466003 GRCh37 Chromosome 5, 37815941: 37815941
3 GDNF NM_000514.3(GDNF): c.460A> T (p.Thr154Ser) single nucleotide variant risk factor rs104893891 GRCh37 Chromosome 5, 37815929: 37815929
4 GDNF NM_000514.3(GDNF): c.633C> G (p.Ile211Met) single nucleotide variant risk factor rs121918536 GRCh37 Chromosome 5, 37815756: 37815756

Expression for Hirschsprung Disease 3

Search GEO for disease gene expression data for Hirschsprung Disease 3.

Pathways for Hirschsprung Disease 3

GO Terms for Hirschsprung Disease 3

Sources for Hirschsprung Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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