KEGG   DISEASE: Hajdu-Cheney syndrome
Entry
H00623                      Disease                                
Name
Hajdu-Cheney syndrome
Description
Hajdu-Cheney syndrome (HJCYS) 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
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB86  Disorders associated with bone growth
    H00623  Hajdu-Cheney syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06511  NOTCH signaling
   H00623  Hajdu-Cheney syndrome
Pathway
hsa04330  Notch signaling pathway
Network
nt06511 NOTCH signaling
Gene
NOTCH2 [HSA:4853] [KO:K20994]
Other DBs
ICD-11: FB86.2
ICD-10: M89.5
MeSH: D031845
OMIM: 102500
Reference
PMID:21681853
  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)
DOI:10.1002/humu.21546
Reference
PMID:21378989
  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)
DOI:10.1038/ng.778
Reference
PMID:11343321
  Authors
Brennan AM, Pauli RM
  Title
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.
  Journal
Am J Med Genet 100:292-310 (2001)
DOI:10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4
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