KEGG   DISEASE: Skeletal dysplasia with joint laxity and advanced bone age
Entry
H02551                      Disease                                
Name
Skeletal dysplasia with joint laxity and advanced bone age
Description
Skeletal dysplasia with joint laxity and advanced bone age (SDJLABA) is a congenital disorder of glycosylation. SDJLABA is caused by mutations in CSGALNACT1that encodes a key enzyme in the biosynthesis of sulfated glycosaminoglycans chondroitin and dermatan sulfate.
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
    H02551  Skeletal dysplasia with joint laxity and advanced bone age
Pathway-based classification of diseases [BR:br08402]
 Glycan/glycoprotein metabolism
  nt06029  Glycosaminoglycan biosynthesis
   H02551  Skeletal dysplasia with joint laxity and advanced bone age
Pathway
hsa00532  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Network
nt06029 Glycosaminoglycan biosynthesis
Gene
CSGALNACT1 [HSA:55790] [KO:K00746]
Other DBs
ICD-11: LD24.Y
ICD-10: Q78.8
OMIM: 618870
Reference
PMID:31325655
  Authors
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M
  Title
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
  Journal
Bone 127:446-451 (2019)
DOI:10.1016/j.bone.2019.07.016
Reference
PMID:31705726
  Authors
Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, Greber-Platzer S, Deak KL, Katsanis N, Superti-Furga A, Sugahara K, Davis EE, Yamada S, Vodopiutz J
  Title
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
  Journal
Hum Mutat 41:655-667 (2020)
DOI:10.1002/humu.23952
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