KEGG DISEASE: Worth type autosomal dominant osteosclerosis

DISEASE: Worth type autosomal dominant osteosclerosis

Entry

H00450                      Disease

Name

Worth type autosomal dominant osteosclerosis;
Endosteal hyperostosis

Description

Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is a genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt.

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
    H00450  Worth type autosomal dominant osteosclerosis

Pathway

hsa04150

mTOR signaling pathway

hsa04310

Wnt signaling pathway

hsa04928

Parathyroid hormone synthesis, secretion and action

Gene

LRP5 [HSA:4041] [KO:K03068]

Other DBs

ICD-11:

LD24.1Y

MeSH:

C536748

OMIM:

144750

Reference

PMID:12579474

Authors

Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W

Title

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

Journal

Am J Hum Genet 72:763-71 (2003)
DOI:10.1086/368277

Reference

PMID:198844

Authors

Gelman MI

Title

Autosomal dominant osteosclerosis.

Journal

Radiology 125:289-96 (1977)
DOI:10.1148/125.2.289

LinkDB

» Japanese version

DBGET integrated database retrieval system