HSCR3
MCID: HRS006
MIFTS: 18

Hirschsprung Disease Type 3 (HSCR3) malady

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

Summaries for Hirschsprung Disease Type 3

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OMIM:46 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is...613711 more...

MalaCards based summary: Hirschsprung Disease Type 3, also known as hirschsprung disease modifier, is related to hirschsprung's disease. An important gene associated with Hirschsprung Disease Type 3 is GDNF (glial cell derived neurotrophic factor). Affiliated tissues include colon.

Aliases & Classifications for Hirschsprung Disease Type 3

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Hirschsprung Disease Type 3, Aliases & Descriptions:

Name: Hirschsprung Disease Type 3 42 23 61
Hirschsprung Disease Modifier 42
 
Hirschsprung Disease 3 46
Hscr3 42


Classifications:



Related Diseases for Hirschsprung Disease Type 3

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Symptoms for Hirschsprung Disease Type 3

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Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease Type 3

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Drug clinical trials:

Search ClinicalTrials for Hirschsprung Disease Type 3

Search NIH Clinical Center for Hirschsprung Disease Type 3

Genetic Tests for Hirschsprung Disease Type 3

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Genetic tests related to Hirschsprung Disease Type 3:

id Genetic test Affiliating Genes
1 Hirschsprung Disease 323

Anatomical Context for Hirschsprung Disease Type 3

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MalaCards organs/tissues related to Hirschsprung Disease Type 3:

32
Colon

Animal Models for Hirschsprung Disease Type 3 or affiliated genes

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Publications for Hirschsprung Disease Type 3

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Variations for Hirschsprung Disease Type 3

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

63
id Symbol AA change Variation ID SNP ID
1GDNFp.Thr154SerVAR_009497
2GDNFp.Ile211MetVAR_018152

Clinvar genetic disease variations for Hirschsprung Disease Type 3:

7
id Gene Name 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 Type 3

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Expression patterns in normal tissues for genes affiliated with Hirschsprung Disease Type 3

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

Pathways for genes affiliated with Hirschsprung Disease Type 3

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Compounds for genes affiliated with Hirschsprung Disease Type 3

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GO Terms for genes affiliated with Hirschsprung Disease Type 3

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Products for genes affiliated with Hirschsprung Disease Type 3

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

Sources for Hirschsprung Disease Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet