KEGG   DISEASE: Achondrogenesis type IB
Entry
H02065                      Disease                                
Name
Achondrogenesis type IB;
Achondrogenesis, Fraccaro type
Description
Achondrogenesis type IB (ACG-IB) is an autosomal recessive chondrodysplasia characterized by extremely poor skeletal development and perinatal death. ACG-IB is caused by mutations in the solute carrier family 26 sulphate transporter, member 2 gene (SLC26A2).
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
    H02065  Achondrogenesis type IB
Gene
SLC26A2 [HSA:1836] [KO:K14701]
Other DBs
ICD-11: LD24.50
MeSH: C536019
OMIM: 600972
Reference
PMID:11570921
  Authors
Corsi A, Riminucci M, Fisher LW, Bianco P
  Title
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.
  Journal
Arch Pathol Lab Med 125:1375-8 (2001)
DOI:10.1043/0003-9985(2001)125<1375:ATI>2.0.CO;2
Reference
PMID:8528239
  Authors
Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R
  Title
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
  Journal
Nat Genet 12:100-2 (1996)
DOI:10.1038/ng0196-100
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