HSCR3
MCID: HRS006
MIFTS: 21

Hirschsprung Disease Type 3 (HSCR3) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Fetal diseases categories
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Summaries for Hirschsprung Disease Type 3

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Sources:
47OMIM, 33MalaCards
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MalaCards: Hirschsprung Disease Type 3, also known as hirschsprung disease modifier, is related to hirschsprung's disease and ret-related hirschsprung disease. An important gene associated with Hirschsprung Disease Type 3 is GDNF (glial cell derived neurotrophic factor). Affiliated tissues include colon.

Description from OMIM:47 613711

Aliases & Classifications for Hirschsprung Disease Type 3

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Sources:
43NIH Rare Diseases, 22GTR, 62UMLS, 47OMIM
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Classifications:



Aliases & Descriptions:

hirschsprung disease type 3 43 22 62
hirschsprung disease modifier 43
hirschsprung disease 3 47
hscr3 43


Related Diseases for Hirschsprung Disease Type 3

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hirschsprung Disease Type 3:



Diseases related to hirschsprung disease type 3

Symptoms for Hirschsprung Disease Type 3

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Sources:
47OMIM
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Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease Type 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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Genetic tests related to Hirschsprung Disease Type 3:

id Genetic test Affiliating Genes
1 Hirschsprung Disease 322

Anatomical Context for Hirschsprung Disease Type 3

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33MalaCards
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MalaCards organs/tissues related to Hirschsprung Disease Type 3:

33
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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease Type 3:

64
id Symbol AA change Variation ID SNP ID
1GDNFp.Thr154SerVAR_009497
2GDNFp.Ile211MetVAR_018152

Clinvar genetic disease variations for Hirschsprung Disease Type 3:

1
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

Expression for genes affiliated with Hirschsprung Disease Type 3

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources for Hirschsprung Disease Type 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet