KEGG DISEASE: Tricho-dento-osseous syndrome

KEGG

DISEASE: Tricho-dento-osseous syndrome

Entry

H00487                      Disease

Name

Tricho-dento-osseous syndrome

Description

Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00487  Tricho-dento-osseous syndrome

Gene

DLX3 [HSA:1747] [KO:K09315]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Haldeman RJ, Cooper LF, Hart TC, Phillips C, Boyd C, Lester GE, Wright JT

Title

Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome.

Journal

Bone 35:988-97 (2004)
DOI:10.1016/j.bone.2004.06.003

Reference

Authors

Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU

Title

DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.

Journal

Am J Med Genet A 146:343-9 (2008)
DOI:10.1002/ajmg.a.32132

Reference

Authors

Duverger O, Lee D, Hassan MQ, Chen SX, Jaisser F, Lian JB, Morasso MI

Title

Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome.

Journal

J Biol Chem 283:20198-208 (2008)
DOI:10.1074/jbc.M709562200

LinkDB

» Japanese version

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