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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 4 and megacolon.

No data available for 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 Location for HSCR5 Gene

Unknown strand

Genomic View for HSCR5 Gene

Cytogenetic band:

No data available for 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 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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 and Gene Ontology (GO) - Cellular Components for HSCR5 Gene

Pathways 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 for HSCR5 Gene

Expression for HSCR5 Gene

No Expression Related Data Available

Primer Products

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Expression partners 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) and Relevant External Links for HSCR5 Gene

Disorders for HSCR5 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for HSCR5 Gene in MalaCards »

(2) Diseases for HSCR5 Gene

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 OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and External Links for HSCR5 Gene

Publications for HSCR5 Gene

  1. Hirschsprung disease, associated syndromes and genetics: a review. (PMID: 17965226) Amiel J. … Fernandez R. (J. Med. Genet. 2008) 3
  2. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. (PMID: 7987295) Puffenberger E.G. … Ladda R. (Hum. Mol. Genet. 1994) 3
  3. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. (PMID: 4224912) Passarge E. (N. Engl. J. Med. 1967) 3
  4. Hirschsprung disease: a genetic study. (PMID: 2934185) Garver K.L. … Garver B. (Clin. Genet. 1985) 3

Products for HSCR5 Gene

Sources for HSCR5 Gene

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