KEGG   DISEASE: Metatropic dysplasia
Entry
H02184                      Disease                                

Name
Metatropic dysplasia
Description
Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02184  Metatropic 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
    H02184  Metatropic dysplasia
Gene
TRPV4 [HSA:59341] [KO:K04973]
Other DBs
ICD-11: LD24.3
ICD-10: Q77.8
MeSH: C537356
OMIM: 156530
Reference
  Authors
Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH
  Title
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
  Journal
Am J Med Genet A 152A:1169-77 (2010)
DOI:10.1002/ajmg.a.33392
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