KEGG   DISEASE: Spondyloepiphyseal dysplasia, Maroteaux type
Entry
H02186                      Disease                                

Name
Spondyloepiphyseal dysplasia, Maroteaux type;
Pseudo-Morquio syndrome type 2
  Supergrp
Spondyloepiphyseal dysplasia [DS:H02462]
Description
Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02186  Spondyloepiphyseal dysplasia, Maroteaux type
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
    H02186  Spondyloepiphyseal dysplasia, Maroteaux type
Gene
TRPV4 [HSA:59341] [KO:K04973]
Other DBs
ICD-11: LD24.3
ICD-10: Q77.7
MeSH: C563218
OMIM: 184095
Reference
  Authors
Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
  Title
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
  Journal
Am J Med Genet A 152A:1443-9 (2010)
DOI:10.1002/ajmg.a.33414
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