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DOOR Syndrome / Rare Genetic Disorder

Last Updated on Sep 20, 2018
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What is DOOR Syndrome?

DOOR syndrome is a rare congenital (observed at birth) condition involving numerous anatomic and developmental abnormalities. The incidence of DOOR syndrome is rare with only 50 people known to be affected globally.

DOOR is an acronym for deafness, onychodystrophy (short or no nails), osteodystrophy (short toes and fingers), and mental retardation.With the inclusion of "seizures", the condition is also called DOORS. DOOR syndrome makes no distinction between men and women and affects them equally.


What are the Causes of DOOR syndrome?

DOOR syndrome is an inherited autosomal recessive genetic condition that, in some cases, is caused by mutations in the TBC1D24 gene. In an autosomal recessive condition, both the copies of the gene must be abnormal for the clinical features to be present. Therefore both parents are carriers of the abnormal gene with one abnormal copy each and therefore are not affected. The TBC1D24 gene encodes information for a protein that controls nerve cell polarity, bone cell function, and the intake and release of molecules within the body. The gene is found expressed in the kidney, brain, liver, ear, and the heart. Half of the affected individuals contain TBC1D24 mutations, while the cause of DOOR syndrome in the remaining individuals is not known.


  1. Genetics Home Reference. DOORS syndrome. Published August 2018. Cited September 4, 2018. - (https://ghr.nlm.nih.gov/condition/doors-syndrome)
  2. NORD – National Organization for Rare Disorders. DOOR syndrome. Published 2015; Cited September 4, 2018. - (https://rarediseases.org/rare-diseases/door-syndrome/)
  3. Mucha BE et al. TBC1D24-Related Disorders. 2015 Feb 26 [Updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. - (https://www.ncbi.nlm.nih.gov/books/NBK274566/)
  4. MedlinePlus. Sensorineural deafness. Updated August 31, 2018. Accessed September 6, 2018. Cited September 6, 2018. - (https://medlineplus.gov/ency/article/003291.htm)
  5. Orphanet. Doors syndrome. Updated September 2014; Cited September 4, 2018.
  6. Berkovic SF, Gecz J. Phenotype-genotype complexities: opening DOORS. Lancet Neurol. 2013;Vol.13(1):24-25.
  7. Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology. 2014;13(1):44-58. doi:10.1016/S1474-4422(13)70265-5.
  8. Rehman A, Friedman T, Griffith A. Unresolved questions regarding human hereditary deafness. Oral diseases. 2017;23(5):551-558. doi:10.1111/odi.12516.

Latest Publications and Research on DOOR Syndrome / Rare Genetic Disorder

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