KEGG DISEASE: DOORS syndrome

KEGG

DISEASE: DOORS syndrome

Entry

H02218                      Disease

Name

DOORS syndrome;
Eronen syndrome;
Digitorenocerebral syndrome

Description

DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. As a probable cause of DOORS syndrome, mutations in TBC1D24 have been identified.

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
    H02218  DOORS syndrome

Gene

TBC1D24 [HSA:57465] [KO:K21841]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

James AW, Miranda SG, Culver K, Hall BD, Golabi M

Title

DOOR syndrome: clinical report, literature review and discussion of natural history.

Journal

Am J Med Genet A 143A:2821-31 (2007)
DOI:10.1002/ajmg.a.32054

Reference

Authors

Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Felix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM

Title

The genetic basis of DOORS syndrome: an exome-sequencing study.

Journal

Lancet Neurol 13:44-58 (2014)
DOI:10.1016/S1474-4422(13)70265-5

LinkDB

» Japanese version

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