KEGG   DISEASE: Atelosteogenesis type II
Entry
H00515                      Disease                                

Name
Atelosteogenesis type II
Description
Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00515  Atelosteogenesis type II
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
    H00515  Atelosteogenesis type II
Gene
DTDST [HSA:1836] [KO:K14701]
Other DBs
ICD-11: LD24.03
ICD-10: Q77.5
MeSH: C535395
OMIM: 256050
Reference
  Authors
Karniski LP
  Title
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
  Journal
Hum Mol Genet 10:1485-90 (2001)
DOI:10.1093/hmg/10.14.1485
Reference
PMID:8571951
  Authors
Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
  Title
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
  Journal
Am J Hum Genet 58:255-62 (1996)

» Japanese version

DBGET integrated database retrieval system