MCID: HRS034
MIFTS: 21

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 54 71 29
Hirschsprung Disease Type 3 50 69
Hscr3 50 71
Hirschsprung Disease, Susceptibility to, 3 13
Hirschsprung Disease Modifier 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 613711
MeSH 42 D006627

Summaries for Hirschsprung Disease 3

OMIM : 54
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 hirschsprung disease type 3. An important gene associated with Hirschsprung Disease 3 is GDNF (Glial Cell Derived Neurotrophic Factor). The drug Cola has been mentioned in the context of this disorder. 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:

54

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


Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease 3

Drugs for Hirschsprung Disease 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2 VSL#3;Placebo
2 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008
3 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
4 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Not yet recruiting NCT02342457

Search NIH Clinical Center for Hirschsprung Disease 3

Genetic Tests for Hirschsprung Disease 3

Genetic tests related to Hirschsprung Disease 3:

id Genetic test Affiliating Genes
1 Hirschsprung Disease 3 29

Anatomical Context for Hirschsprung Disease 3

MalaCards organs/tissues related to Hirschsprung Disease 3:

39
Colon

Publications for Hirschsprung Disease 3

Variations for Hirschsprung Disease 3

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

71
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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