KEGG   DISEASE: Spondylometaphyseal dysplasia
Entry
H02185                      Disease                                

Name
Spondylometaphyseal dysplasia
  Subgroup
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, corner fracture type
Spondylometaphyseal dysplasia, axial (SMDAX)
Spondylometaphyseal dysplasia, Sedaghatian type [DS:H01825]
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type [DS:H01830]
Spondylometaphyseal dysplasia with cone-rod dystrophy [DS:H01821]
Description
The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02185  Spondylometaphyseal dysplasia
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
    H02185  Spondylometaphyseal dysplasia
Gene
(SMDK) TRPV4 [HSA:59341] [KO:K04973]
(SMDCF) FN1 [HSA:2335] [KO:K05717]
(SMDAX) CFAP410 [HSA:755] [KO:K23456]
Other DBs
ICD-11: LD24.4
ICD-10: Q77.8
MeSH: D010009
OMIM: 184252 184255 602271
Reference
  Authors
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
  Title
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
  Journal
Am J Hum Genet 84:307-15 (2009)
DOI:10.1016/j.ajhg.2009.01.021
Reference
  Authors
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM
  Title
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
  Journal
Am J Hum Genet 101:815-823 (2017)
DOI:10.1016/j.ajhg.2017.09.019
Reference
  Authors
Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M
  Title
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
  Journal
Am J Med Genet A 152A:1550-4 (2010)
DOI:10.1002/ajmg.a.33397
Reference
  Authors
Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G
  Title
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
  Journal
Mol Syndromol 4:148-51 (2013)
DOI:10.1159/000346644
LinkDB

» Japanese version

DBGET integrated database retrieval system