HSCR3
MCID: HRS006
MIFTS: 21

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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48OMIM, 34MalaCards
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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:48 613711

Aliases & Classifications for Hirschsprung Disease Type 3

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Sources:
44NIH Rare Diseases, 23GTR, 63UMLS, 48OMIM
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Classifications:



Aliases & Descriptions:

hirschsprung disease type 3 44 23 63
hirschsprung disease modifier 44
hirschsprung disease 3 48
hscr3 44


Related Diseases for Hirschsprung Disease Type 3

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18GeneCards, 19GeneDecks
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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:
48OMIM
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Clinical features from OMIM:

613711

Drugs & Therapeutics for Hirschsprung Disease Type 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hirschsprung Disease Type 3

Drug clinical trials:

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Search NIH Clinical Center for Hirschsprung Disease Type 3

Search CenterWatch for Hirschsprung Disease Type 3

Genetic Tests for Hirschsprung Disease Type 3

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23GTR
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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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34MalaCards
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MalaCards organs/tissues related to Hirschsprung Disease Type 3:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hirschsprung Disease Type 3:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet