KEGG   DISEASE: Brachyolmia
Entry
H00522                      Disease                                

Name
Brachyolmia
  Subgroup
Autosomal dominant brachyolmia
Spondyloepiphyseal dysplasia, Pakistani type [DS:H00761]
Description
Brachyolmia (BCYM) is a heterogeneous group of skeletal dysplasias that primarily affects the spine. To date, four types of brachyolmia are known. Mutations in the TRPV4, a calcium-permeable nonselective cation channel, have been identified in an autosomal dominant form of brachyolmia (BCYM3). And it has been reported that PAPSS2 mutations cause autosomal recessive brachyolmia (BCRM4).
Category
Skeletal dysplasia
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00522  Brachyolmia
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
    H00522  Brachyolmia
Gene
(BCYM3) TRPV4 [HSA:59341] [KO:K04973]
(BCYM4) PAPSS2 [HSA:9060] [KO:K13811]
Other DBs
ICD-11: LD24.5Y
ICD-10: Q76.3
MeSH: C537098
OMIM: 271530 113500 612847
Reference
PMID:2669482
  Authors
Shohat M, Lachman R, Gruber HE, Rimoin DL
  Title
Brachyolmia: radiographic and genetic evidence of heterogeneity.
  Journal
Am J Med Genet 33:209-19 (1989)
DOI:10.1002/ajmg.1320330214
Reference
  Authors
Grigelioniene G, Geiberger S, Horemuzova E, Mostrom E, Jantti N, Neumeyer L, Astrom E, Nordenskjold M, Nordgren A, Makitie O
  Title
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
  Journal
Am J Med Genet A 164A:1635-41 (2014)
DOI:10.1002/ajmg.a.36502
Reference
  Authors
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
  Title
PAPSS2 mutations cause autosomal recessive brachyolmia.
  Journal
J Med Genet 49:533-8 (2012)
DOI:10.1136/jmedgenet-2012-101039
LinkDB

» Japanese version

DBGET integrated database retrieval system