KEGG   DISEASE: H00623Help
Entry
H00623                      Disease                                

Name
Hajdu-Cheney syndrome
Description
Hajdu-Cheney Syndrome is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.
Category
Skeletal dysplasia
BRITE hierarchy
Pathway
Notch signaling pathway
Gene
NOTCH2 [HSA:4853] [KO:K02599]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21681853 (gene)
  Authors
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME
  Title
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
  Journal
Hum Mutat 32:1114-7 (2011)
Reference
PMID:21378989 (gene)
  Authors
Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C
  Title
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
  Journal
Nat Genet 43:306-8 (2011)
Reference
PMID:11343321 (description)
  Authors
Brennan AM, Pauli RM
  Title
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
  Journal
Am J Med Genet 100:292-310 (2001)

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