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
Cellular process
  nt06546  IgSF CAM signaling
   H02154  Omodysplasia

Pathway

Wnt signaling pathway

IGSF CAM signaling

Network

nt06505 WNT signaling
nt06546 IgSF CAM signaling

Gene

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

Other DBs

ICD-11:

MeSH:

C537746 C567664

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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