KEGG   DISEASE: Achondrogenesis type II
Entry
H02066                      Disease                                

Name
Achondrogenesis type II;
Achondrogenesis, Langer-Saldino type
  Supergrp
Type II collagenopathies [DS:H00520]
Description
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H02066  Achondrogenesis type II
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
    H02066  Achondrogenesis type II
Related
pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
COL2A1 [HSA:1280] [KO:K19719]
Other DBs
ICD-11: LD24.50
ICD-10: Q77.0
MeSH: C536017
OMIM: 200610
Reference
  Authors
Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G
  Title
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
  Journal
Am J Med Genet A 126A:308-12 (2004)
DOI:10.1002/ajmg.a.20597
Reference
  Authors
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F
  Title
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
  Journal
Am J Med Genet A 143A:2815-20 (2007)
DOI:10.1002/ajmg.a.32047

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