KEGG   DISEASE: Spondyloepiphyseal dysplasia tarda
Entry
H00760                      Disease                                
Name
Spondyloepiphyseal dysplasia tarda
  Supergrp
Spondyloepiphyseal dysplasia [DS:H02462]
Description
X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.
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
    H00760  Spondyloepiphyseal dysplasia tarda
Gene
TRAPPC2 [HSA:6399] [KO:K20301]
Other DBs
ICD-11: LD24.3
MeSH: D010009
OMIM: 313400
Reference
PMID:20301324
  Authors
Tiller GE, Hannig VL
  Title
X-Linked Spondyloepiphyseal Dysplasia Tarda
  Journal
GeneReviews (1993)
Reference
PMID:19417549
  Authors
Guo H, Xu X, Wang K, Zhang B, Deng G, Wang Y, Bai Y
  Title
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
  Journal
J Genet 88:87-91 (2009)
DOI:10.1007/s12041-009-0012-3
Reference
PMID:21858081
  Authors
Zong M, Wu XG, Chan CW, Choi MY, Chan HC, Tanner JA, Yu S
  Title
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
  Journal
PLoS One 6:e23350 (2011)
DOI:10.1371/journal.pone.0023350
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