KEGG   DISEASE: FGFR3-related short limb skeletal dysplasiaHelp
Entry
H00505                      Disease                                

Name
FGFR3-related short limb skeletal dysplasia
  Subgroup
Achondroplasia [DS:H01749]
Hypochondroplasia [DS:H02068]
Thanatophoric dysplasia [DS:H01750]
SADDAN [DS:H02069]
Description
FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00505  FGFR3-related short limb skeletal 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
    H00505  FGFR3-related short limb skeletal dysplasia
BRITE hierarchy
Pathway
hsa04010 MAPK signaling pathway   
hsa04014 Ras signaling pathway   
hsa04015 Rap1 signaling pathway   
hsa04151 PI3K-Akt signaling pathway   
hsa04810 Regulation of actin cytoskeleton   
Gene
FGFR3 [HSA:2261] [KO:K05094]
Other DBs
ICD-11: LD24.0
ICD-10: Q77.4
MeSH: D000130 D013796
OMIM: 100800 146000 187600 187601 616482
Reference
  Authors
Cohen MM Jr
  Title
Some chondrodysplasias with short limbs: molecular perspectives.
  Journal
Am J Med Genet 112:304-13 (2002)
DOI:10.1002/ajmg.10780
Reference
  Authors
McIntosh I, Bellus GA, Jab EW
  Title
The pleiotropic effects of fibroblast growth factor receptors in mammalian development.
  Journal
Cell Struct Funct 25:85-96 (2000)
DOI:10.1247/csf.25.85

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