KEGG DISEASE: Craniodiaphyseal dysplasia

KEGG

DISEASE: Craniodiaphyseal dysplasia

Entry

H02609                      Disease

Name

Craniodiaphyseal dysplasia

Description

Craniodiaphyseal dysplasia (CDD) is an autosomal dominant sclerotic bone disorder characterized by distinctive facial dysmorphism-prominent zygomatic bones, broadening of the center of the face, hypertelorism, a small upturned tip of the nose, prominent jaw, and open mouth. Mutations preventing the secretion of SOST have been identified as being responsible for CDD.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
  Osteopathies or chondropathies
   FB80  Certain specified disorders of bone density or structure
    H02609  Craniodiaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H02609  Craniodiaphyseal dysplasia

Pathway

Wnt signaling pathway

Network

nt06505 WNT signaling

Gene

SOST [HSA:50964] [KO:K16834]

Other DBs

ICD-11:

MeSH:

D010009 C567275

OMIM:

Reference

Authors

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semenov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK

Title

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Journal

Hum Genet 129:497-502 (2011)
DOI:10.1007/s00439-011-0947-3

Reference

Authors

Bieganski T, Baranska D, Miastkowska I, Kobielski A, Gorska-Chrzastek M, Kozlowski K

Title

A boy with severe craniodiaphyseal dysplasia and apparently normal mother.

Journal

Am J Med Genet A 143A:2435-43 (2007)
DOI:10.1002/ajmg.a.31938

LinkDB

» Japanese version

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