KEGG   DISEASE: Hypochondroplasia
Entry
H02068                      Disease                                
Name
Hypochondroplasia
  Supergrp
FGFR3-related short limb skeletal dysplasia [DS:H00505]
Description
Hypochondroplasia is an autosomal dominant skeletal dysplasia with rhizomelic short stature. Skeletal features are similar to but milder than those seen in achondroplasia. Mutations in fibroblast growth factor receptor (FGFR3) cause hypochondroplasia.
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
    H02068  Hypochondroplasia
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: LD24.01
ICD-10: Q77.4
MeSH: C562937
OMIM: 146000
Reference
PMID:7670477
  Authors
Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA
  Title
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
  Journal
Nat Genet 10:357-9 (1995)
DOI:10.1038/ng0795-357
Reference
  Authors
Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR
  Title
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
  Journal
Am J Med Genet A 143A:3144-9 (2007)
DOI:10.1002/ajmg.a.31966

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