KEGG DISEASE: Sclerosteosis

DISEASE: Sclerosteosis

Entry

H00486                      Disease

Name

Sclerosteosis

Description

Sclerosteosis is rare sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion, increased intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This disease is due to loss-of-function mutations in the SOST gene, a protein that binds to LRP5/6 and antagonizes Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found in patients with sclerosteosis.

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
    H00486  Sclerosteosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00486  Sclerosteosis

Pathway

hsa04310

Wnt signaling pathway

Network

nt06505 WNT signaling

Gene

(SOST1) SOST [HSA:50964] [KO:K16834]
(SOST2) LRP4 [HSA:4038] [KO:K20051]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20948575

Authors

Mason JJ, Williams BO

Title

SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease.

Journal

J Osteoporos 2010:460120 (2010)
DOI:10.4061/2010/460120

Reference

PMID:20473488 (SOST1)

Authors

Moester MJ, Papapoulos SE, Lowik CW, van Bezooijen RL

Title

Sclerostin: current knowledge and future perspectives.

Journal

Calcif Tissue Int 87:99-107 (2010)
DOI:10.1007/s00223-010-9372-1

Reference

PMID:26751728 (SOST2)

Authors

Fijalkowski I, Geets E, Steenackers E, Van Hoof V, Ramos FJ, Mortier G, Fortuna AM, Van Hul W, Boudin E

Title

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

Journal

J Bone Miner Res 31:874-81 (2016)
DOI:10.1002/jbmr.2782

LinkDB

» Japanese version

DISEASE: Cenani-Lenz syndactyly syndrome

Entry

H00853                      Disease

Name

Cenani-Lenz syndactyly syndrome

Description

Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling.