KEGG DISEASE: Brachyolmia

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

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
    H00522  Brachyolmia

Gene

(BCYM3) TRPV4 [HSA:59341] [KO:K04973]
(BCYM4) PAPSS2 [HSA:9060] [KO:K13811]

Other DBs

ICD-11:

MeSH:

OMIM:

271530 113500 612847

Reference

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

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