KEGG DISEASE: Omodysplasia

KEGG

DISEASE: Omodysplasia

Entry

H02154                      Disease

Name

Omodysplasia

Supergrp

Heparan sulfate proteoglycan gene defects [DS:H00493]

Description

Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.

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
    H02154  Omodysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H02154  Omodysplasia

Pathway

Wnt signaling pathway

Network

nt06505 WNT signaling

Gene

(OMOD1) GPC6 [HSA:10082] [KO:K08112]
(OMOD2) FZD2 [HSA:2535] [KO:K02235]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L

Title

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Journal

Am J Hum Genet 84:760-70 (2009)
DOI:10.1016/j.ajhg.2009.05.002

Reference

Authors

Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW

Title

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Journal

Hum Mol Genet 24:3399-409 (2015)
DOI:10.1093/hmg/ddv088

LinkDB

» Japanese version

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