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Aliases for HSCR5 Gene

Aliases for HSCR5 Gene

  • Hirschsprung Disease, Susceptibility To, 5 3

External Ids for HSCR5 Gene

Summaries for HSCR5 Gene

Entrez Gene Summary for HSCR5 Gene

  • The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]

GeneCards Summary for HSCR5 Gene

HSCR5 (Hirschsprung Disease, Susceptibility To, 5) is a Genetic Locus. Diseases associated with HSCR5 include Hirschsprung Disease 5 and Hirschsprung Disease 1.

Additional gene information for HSCR5 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSCR5 Gene

Genomics for HSCR5 Gene

Genomic Locations for HSCR5 Gene

Genomic Locations for HSCR5 Gene
Unknown strand

Genomic View for HSCR5 Gene

Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for HSCR5 Gene

Proteins for HSCR5 Gene

Post-translational modifications for HSCR5 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HSCR5 Gene

Domains & Families for HSCR5 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for HSCR5 Gene

Function for HSCR5 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HSCR5 Gene

Localization for HSCR5 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HSCR5 Gene

Pathways & Interactions for HSCR5 Gene

SuperPathways for HSCR5 Gene

No Data Available

Interacting Proteins for HSCR5 Gene

Gene Ontology (GO) - Biological Process for HSCR5 Gene


No data available for Pathways by source and SIGNOR curated interactions for HSCR5 Gene

Drugs & Compounds for HSCR5 Gene

No Compound Related Data Available

Transcripts for HSCR5 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for HSCR5 Gene

No ASD Table

No data available for mRNA/cDNA for HSCR5 Gene

Expression for HSCR5 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HSCR5 Gene

Orthologs for HSCR5 Gene

No data available for Orthologs and Evolution for HSCR5 Gene

Paralogs for HSCR5 Gene

No data available for Paralogs for HSCR5 Gene

Variants for HSCR5 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for HSCR5 Gene

Disorders for HSCR5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HSCR5 Gene - From: OMIM

Disorder Aliases PubMed IDs
hirschsprung disease 5
  • hirschsprung disease, susceptibility to, 5
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search HSCR5 in MalaCards View complete list of genes associated with diseases

Genatlas disease for HSCR5 Gene

Hirschsprung disease 4,with ventricular septum defect and facial dysmorphism
genes like me logo Genes that share disorders with HSCR5: view

No data available for UniProtKB/Swiss-Prot and External Links for HSCR5 Gene

Publications for HSCR5 Gene

  1. Hirschsprung disease, associated syndromes and genetics: a review. (PMID: 17965226) Amiel J … Hirschsprung Disease Consortium (Journal of medical genetics 2008) 3 58
  2. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. (PMID: 7987295) Puffenberger EG … Ladda R (Human molecular genetics 1994) 3 58
  3. Hirschsprung disease: a genetic study. (PMID: 2934185) Garver KL … Garver B (Clinical genetics 1985) 3 58
  4. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. (PMID: 4224912) Passarge E (The New England journal of medicine 1967) 3 58

Products for HSCR5 Gene

Sources for HSCR5 Gene

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