KEGG   DISEASE: Diastrophic dysplasiaHelp
Entry
H02063                      Disease                                

Name
Diastrophic dysplasia
Description
Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. DTD is especially prevalent in Finland.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02063  Diastrophic 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
    H02063  Diastrophic dysplasia
BRITE hierarchy
Gene
SLC26A2 [HSA:1836] [KO:K14701]
Comment
ICD-10: Q77.5
OMIM: 222600
Other DBs
ICD-11: LD24.03
Reference
  Authors
Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, de la Chapelle A, Lander ES
  Title
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
  Journal
Eur J Hum Genet 7:664-70 (1999)
DOI:10.1038/sj.ejhg.5200361
Reference
  Authors
Makitie O, Geiberger S, Horemuzova E, Hagenas L, Mostrom E, Nordenskjold M, Grigelioniene G, Nordgren A
  Title
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
  Journal
Clin Genet 87:273-8 (2015)
DOI:10.1111/cge.12371

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