MCID: HRS034
MIFTS: 20

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 50 68
Hirschsprung Disease Type 3 46 25 66
Hscr3 46 68
 
Hirschsprung Disease, Susceptibility to, 3 12
Hirschsprung Disease Modifier 46

Classifications:



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OMIM50 613711
MeSH37 D006627

Summaries for Hirschsprung Disease 3

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OMIM:50 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:68 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
1COLANutraceutical1824

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 325

Anatomical Context for Hirschsprung Disease 3

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MalaCards organs/tissues related to Hirschsprung Disease 3:

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet