DOOR syndrome
{{Infobox medical condition (new)
| 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
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| field = DiseasesDB = 32494
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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 mental retardation, 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.{{Cite journal |vauthors=Le Merrer M, David A, Goutieres F, Briard ML |date=October 1992 |title=Digito-reno-cerebral syndrome: confirmation of Eronen syndrome |journal=Clin. Genet. |volume=42 |issue=4 |pages=196–8 |doi=10.1111/j.1399-0004.1992.tb03236.x |pmid=1424243 |s2cid=28902508}}
Signs and symptoms
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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.{{Cite journal |last=Campeau |first=P. M. |last2=Kasperaviciute |first2=D. |last3=Lu |first3=J. T. |last4=Burrage |first4=L. C. |last5=Kim |first5=C. |last6=Hori |first6=M. |last7=Powell |first7=B. R. |last8=Stewart |first8=F. |last9=Félix |first9=T. M. M. |last10=Van Den Ende |first10=J. |last11=Wisniewska |first11=M. |last12=Kayserili |first12=H. L. |last13=Rump |first13=P. |last14=Nampoothiri |first14=S. |last15=Aftimos |first15=S. |year=2014 |title=The genetic basis of DOORS syndrome: An exome-sequencing study |journal=The Lancet Neurology |volume=13 |issue=1 |pages=44–58 |doi=10.1016/S1474-4422(13)70265-5 |pmc=3895324 |pmid=24291220 |last16=Mey |first16=A. |last17=Nair |first17=L. D. V. |last18=Begleiter |first18=M. L. |last19=De Bie |first19=I. |last20=Meenakshi |first20=G. |last21=Murray |first21=M. L. |last22=Repetto |first22=G. M. |last23=Golabi |first23=M. |last24=Blair |first24=E. |last25=Male |first25=A. |last26=Giuliano |first26=F. |last27=Kariminejad |last29=Bhaskar |first29=S. S. |last30=Dickerson |first30=J. E. |last28=Newman |first28=W. G. |first27=A.}}
Diagnosis
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Treatment
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References
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External links
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| ICD10 = Q87.8
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| OMIM = 220500
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Category:Autosomal recessive disorders
Category:Genetic disorders with OMIM but no gene
Category:Syndromes with intellectual disability