MCID: HRS034
MIFTS: 21

Hirschsprung Disease 3 malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Hirschsprung Disease 3

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Aliases & Descriptions for Hirschsprung Disease 3:

Name: Hirschsprung Disease 3 51 69
Hirschsprung Disease Type 3 47 26 67
Hscr3 47 69
 
Hirschsprung Disease, Susceptibility to, 3 12
Hirschsprung Disease Modifier 47

Classifications:



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OMIM51 613711
MeSH38 D006627

Summaries for Hirschsprung Disease 3

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OMIM:51 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:69 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
1ColaNutraceutical1881

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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Genetic tests related to Hirschsprung Disease 3:

id Genetic test Affiliating Genes
1 Hirschsprung Disease 326

Anatomical Context for Hirschsprung Disease 3

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MalaCards organs/tissues related to Hirschsprung Disease 3:

35
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:

69
id Symbol AA change Variation ID SNP ID
1GDNFp.Thr154SerVAR_009497rs104893891
2GDNFp.Ile211MetVAR_018152rs121918536

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)SNVPathogenic, risk factorrs36119840GRCh37Chr 5, 37816112: 37816112
2GDNFNM_000514.3(GDNF): c.460A> T (p.Thr154Ser)SNVrisk factorrs104893891GRCh37Chr 5, 37815929: 37815929
3GDNFNM_000514.3(GDNF): c.633C> G (p.Ile211Met)SNVrisk 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet