KEGG   DISEASE: Chromosome 5p deletion syndrome
Entry
H00764                      Disease                                
Name
Chromosome 5p deletion syndrome;
Cri du chat syndrome;
Cat cry syndrome
Description
The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. SEMAF/ SEMA5A and CTNND2 have been mapped to the critical regions, and their deletion may be associated with mental retardation in CdCS patients. The TERT deletion may contribute to the phenotypic changes in CdCS.
Category
Chromosomal abnormality
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H00764  Chromosome 5p deletion syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H00764  Chromosome 5p deletion syndrome
Pathway
hsa04310  Wnt signaling pathway
hsa04360  Axon guidance
Gene
SEMA5A [HSA:9037] [KO:K06841]
CTNND2 [HSA:1501] [KO:K23491]
TERT [HSA:7015] [KO:K11126]
Other DBs
ICD-11: LD44.51
ICD-10: Q93.4
MeSH: D003410
OMIM: 123450
Reference
  Authors
Cerruti Mainardi P
  Title
Cri du Chat syndrome.
  Journal
Orphanet J Rare Dis 1:33 (2006)
DOI:10.1186/1750-1172-1-33
Reference
PMID:9464278
  Authors
Simmons AD, Puschel AW, McPherson JD, Overhauser J, Lovett M
  Title
Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.
  Journal
Biochem Biophys Res Commun 242:685-91 (1998)
DOI:10.1006/bbrc.1997.8027
Reference
  Authors
Medina M, Marinescu RC, Overhauser J, Kosik KS
  Title
Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.
  Journal
Genomics 63:157-64 (2000)
DOI:10.1006/geno.1999.6090
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