MCID: HRS034
MIFTS: 17

Hirschsprung Disease 3 malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Fetal diseases categories

Summaries for Hirschsprung Disease 3

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OMIM:45 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.

Aliases & Classifications for Hirschsprung Disease 3

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Hirschsprung Disease 3, Aliases & Descriptions:

Name: Hirschsprung Disease 3 45
Hirschsprung Disease Type 3 41 22 60
Hirschsprung Disease, Susceptibility to, 3 10
 
Hirschsprung Disease Modifier 41
Hscr3 41


Classifications:



External Ids:

OMIM45 613711

Related Diseases for Hirschsprung Disease 3

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Diseases in the Hirschsprung Disease 1 family:

hirschsprung disease 3 Hirschsprung Disease 2
Hirschsprung Disease 4 Ret-Related Hirschsprung Disease
Nrtn-Related Hirschsprung Disease Gdnf-Related Hirschsprung Disease
Ednrb-Related Hirschsprung Disease Edn3-Related Hirschsprung Disease
Ece1-Related Hirschsprung Disease

Diseases related to Hirschsprung Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung disease 110.1

Symptoms for Hirschsprung Disease 3

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Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease 3

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Drug clinical trials:

Search ClinicalTrials for Hirschsprung Disease 3

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 322

Anatomical Context for Hirschsprung Disease 3

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MalaCards organs/tissues related to Hirschsprung Disease 3:

31
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:

62
id Symbol AA change Variation ID SNP ID
1GDNFp.Thr154SerVAR_009497
2GDNFp.Ile211MetVAR_018152

Clinvar genetic disease variations for Hirschsprung Disease 3:

6
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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Compounds for genes affiliated with Hirschsprung Disease 3

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GO Terms for genes affiliated with Hirschsprung Disease 3

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Products for genes affiliated with Hirschsprung Disease 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hirschsprung Disease 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet