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DOOR syndrome

Field	Value
synonyms	Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
name	DOOR syndrome
image	Autosomal recessive - en.svg
caption	This condition is inherited in an autosomal recessive manner
field	DiseasesDB = 32494

DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by intellectual disability, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as Eronen syndrome, but since both disorders are extremely rare it is hard to make a determination.

Cause

The recurrence of DOOR in siblings and the finding of DOOR syndrome in a few families with consanguinity suggest that the condition is an autosomal recessive genetic condition. Mutations in TBC1D24 have been identified in 9 families.

References

(October 1992). "Digito-reno-cerebral syndrome: confirmation of Eronen syndrome". Clin. Genet..
Campeau, P. M.. (2014). "The genetic basis of DOORS syndrome: An exome-sequencing study". The Lancet Neurology.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders genetic-disorders-with-omim-but-no-gene syndromes-with-intellectual-disability syndromes-with-sensorineural-hearing-loss rare-syndromes

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