Details of Disease | DrugMAP

General Information of Disease (ID: DISMR9ZU)

Disease Name	DOORS syndrome
Synonyms	drc syndrome; brachydactyly due to absence of distal phalanges; deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome; DOORS; Eronen syndrome; deafness onychodystrophy osteodystrophy and mental retardation syndrome; Digitorenocerebral syndrome; deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome; deafness onychodystrophy osteodystrophy and intellectual disability syndrome; autosomal recessive deafness-onychodystrophy syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; deafness-onychoosteodystrophy-intellectual disability syndrome; deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; door syndrome; DOORS syndrome
Definition	DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISMR9ZU: DOORS syndrome
Disease Identifiers	MONDO ID MONDO_0009079 MESH ID C563052 UMLS CUI C0795934 OMIM ID 220500 MedGen ID 208648 Orphanet ID 79500 SNOMED CT ID 719800009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BANF1	OTP7Z38L	Disputed	Genetic Variation	[1]
ATP6V1B2	OTNX2V4Z	Supportive	Autosomal recessive	[2]
TBC1D24	OTKZUSMD	Definitive	Autosomal recessive	[3]
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References

1	Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):241-51. doi: 10.1002/ajmg.c.31415. Epub 2014 Aug 28.
2	DOORS syndrome and a recurrent?truncating ATP6V1B2 variant. Genet Med. 2021 Jan;23(1):149-154. doi: 10.1038/s41436-020-00950-9. Epub 2020 Sep 2.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.