MCID: HRS034
MIFTS: 19

Hirschsprung Disease 3 malady

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

Aliases & Classifications for Hirschsprung Disease 3

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Aliases & Descriptions for Hirschsprung Disease 3:

Name: Hirschsprung Disease 3 49 67
Hirschsprung Disease Type 3 45 24 65
Hscr3 45 67
 
Hirschsprung Disease, Susceptibility to, 3 11
Hirschsprung Disease Modifier 45

Classifications:



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OMIM49 613711
MeSH36 D006627
UMLS65 C2931739

Summaries for Hirschsprung Disease 3

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OMIM:49 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is... (613711) more...

MalaCards based summary: Hirschsprung Disease 3, also known as hirschsprung disease type 3, is related to hirschsprung disease 1. An important gene associated with Hirschsprung Disease 3 is GDNF (Glial Cell Derived Neurotrophic Factor). Affiliated tissues include colon.

UniProtKB/Swiss-Prot:67 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

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Symptoms for Hirschsprung Disease 3

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Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease 3

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1ColaNutraceutical1768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC)CompletedNCT00630838Phase 2
23D High Resolution Anorectal Manometry in Children After Surgery for Anorectal DisordersRecruitingNCT02296008
3Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung DiseaseRecruitingNCT02193685
4Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung DiseaseNot yet recruitingNCT02342457

Search NIH Clinical Center for Hirschsprung Disease 3

Genetic Tests for Hirschsprung Disease 3

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Anatomical Context for Hirschsprung Disease 3

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MalaCards organs/tissues related to Hirschsprung Disease 3:

33
Colon

Animal Models for Hirschsprung Disease 3 or affiliated genes

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Publications for Hirschsprung Disease 3

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Variations for Hirschsprung Disease 3

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

67
id Symbol AA change Variation ID SNP ID
1GDNFp.Thr154SerVAR_009497
2GDNFp.Ile211MetVAR_018152

Clinvar genetic disease variations for Hirschsprung Disease 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GDNFNM_000514.3(GDNF): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112
2GDNFNM_000514.3(GDNF): c.448G> A (p.Asp150Asn)single nucleotide variantrisk factorrs76466003GRCh37Chr 5, 37815941: 37815941
3GDNFNM_000514.3(GDNF): c.460A> T (p.Thr154Ser)single nucleotide variantrisk factorrs104893891GRCh37Chr 5, 37815929: 37815929
4GDNFNM_000514.3(GDNF): c.633C> G (p.Ile211Met)single nucleotide variantrisk factorrs121918536GRCh37Chr 5, 37815756: 37815756

Expression for genes affiliated with Hirschsprung Disease 3

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

Pathways for genes affiliated with Hirschsprung Disease 3

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GO Terms for genes affiliated with Hirschsprung Disease 3

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Sources for Hirschsprung Disease 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet