KEGG   DISEASE: Terminal osseous dysplasia
Entry
H02229                      Disease                                
Name
Terminal osseous dysplasia;
Terminal osseous dysplasia and pigmentary defects
Description
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02229  Terminal osseous dysplasia
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
ICD-11: LD24.8Y
MeSH: C564554
OMIM: 300244
Reference
PMID:17152064
  Authors
Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B
  Title
Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.
  Journal
Am J Med Genet A 143A:51-7 (2007)
DOI:10.1002/ajmg.a.31557
Reference
PMID:20598277
  Authors
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH
  Title
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
  Journal
Am J Hum Genet 87:146-53 (2010)
DOI:10.1016/j.ajhg.2010.06.008
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