DOORS
MCID: DFN344
MIFTS: 38

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (DOORS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

MalaCards integrated aliases for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

Name: Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 58 76
Digitorenocerebral Syndrome 58 54 26 76 30 6 74
Door Syndrome 58 77 54 26 76 56
Doors Syndrome 58 54 26 38
Eronen Syndrome 58 26 76
Drc Syndrome 58 26 76
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 54 26
Autosomal Recessive Deafness-Onychodystrophy Syndrome 54 26
Brachydactyly Due to Absence of Distal Phalanges 58 76
Doors 58 76
Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome 26
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 26
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 54
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
presence of additional features is variable


HPO:

33
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

NIH Rare Diseases : 54 Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation, which is now referred to as intellectual disability. In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.

MalaCards based summary : Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome, also known as digitorenocerebral syndrome, is related to chikungunya and dengue disease, and has symptoms including seizures An important gene associated with Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include bone, heart and skin, and related phenotypes are dandy-walker malformation and renal agenesis

Genetics Home Reference : 26 DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.

OMIM : 58 The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive. See also DDOD syndrome (124480), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation. (220500)

UniProtKB/Swiss-Prot : 76 Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy.

Wikipedia : 77 DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease... more...

Related Diseases for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Diseases related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 chikungunya 11.5
2 dengue disease 11.4
3 obsessive-compulsive disorder 11.2
4 autosomal dominant deafness-onychodystrophy syndrome 11.2
5 deafness, congenital, with onychodystrophy, autosomal dominant 11.0
6 zika fever 11.0
7 triiodothyronine receptor auxiliary protein 10.4
8 myocardial infarction 10.4
9 essential tremor 10.3
10 tremor 10.3
11 headache 10.2
12 restless legs syndrome 10.2
13 epilepsy 10.1
14 caronte 10.1
15 acute myocardial infarction 10.1
16 patent foramen ovale 10.1
17 ischemia 10.1
18 radiculopathy 10.1
19 malaria 10.0
20 spinal stenosis 10.0
21 heart disease 10.0
22 dementia 10.0
23 migraine with or without aura 1 9.9
24 arts syndrome 9.9
25 diabetic neuropathy 9.9
26 ischemic heart disease 9.9
27 chagas disease 9.9
28 cerebrovascular disease 9.9
29 neuropathy 9.9
30 polymyositis 9.9
31 cardiogenic shock 9.9
32 pulmonary fibrosis, idiopathic 9.9
33 scleroderma, familial progressive 9.9
34 frontotemporal dementia 9.9
35 horns in sheep 9.9
36 mycobacterium tuberculosis 1 9.9
37 dengue virus 9.9
38 neutropenia 9.9
39 pulmonary fibrosis 9.9
40 cysticercosis 9.9
41 sleeping sickness 9.9
42 bell's palsy 9.9
43 cholera 9.9
44 disease of mental health 9.9
45 macular holes 9.9
46 influenza 9.9
47 atrial standstill 1 9.7
48 autoimmune disease 9.7
49 breast cancer 9.7
50 cardiac conduction defect 9.7

Graphical network of the top 20 diseases related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:



Diseases related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

Symptoms & Phenotypes for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Human phenotypes related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

33 (show all 36)
# Description HPO Frequency HPO Source Accession
1 dandy-walker malformation 33 occasional (7.5%) HP:0001305
2 renal agenesis 33 occasional (7.5%) HP:0000104
3 abnormal heart morphology 33 occasional (7.5%) HP:0001627
4 cystic renal dysplasia 33 occasional (7.5%) HP:0000800
5 low-set ears 33 HP:0000369
6 high palate 33 HP:0000218
7 intellectual disability 33 HP:0001249
8 seizures 33 HP:0001250
9 muscular hypotonia 33 HP:0001252
10 coarse facial features 33 HP:0000280
11 cataract 33 HP:0000518
12 wide nasal bridge 33 HP:0000431
13 microcephaly 33 HP:0000252
14 sensorineural hearing impairment 33 HP:0000407
15 anteverted nares 33 HP:0000463
16 optic atrophy 33 HP:0000648
17 blindness 33 HP:0000618
18 long philtrum 33 HP:0000343
19 nail dystrophy 33 HP:0008404
20 everted lower lip vermilion 33 HP:0000232
21 brachydactyly 33 HP:0001156
22 downturned corners of mouth 33 HP:0002714
23 anonychia 33 HP:0001798
24 bulbous nose 33 HP:0000414
25 hyporeflexia 33 HP:0001265
26 nail dysplasia 33 HP:0002164
27 short distal phalanx of finger 33 HP:0009882
28 triphalangeal thumb 33 HP:0001199
29 generalized hypotonia 33 HP:0001290
30 prominent nose 33 HP:0000448
31 abnormality of the skin 33 HP:0000951
32 polyneuropathy 33 HP:0001271
33 cerebral atrophy 33 HP:0002059
34 bilateral sensorineural hearing impairment 33 HP:0008619
35 high myopia 33 HP:0011003
36 profound sensorineural hearing impairment 33 HP:0011476

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
deafness, sensorineural, profound

Head And Neck Head:
microcephaly
narrow bifrontal diameter

Head And Neck Eyes:
optic atrophy
blindness
cataracts
high myopia

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral polyneuropathy

Skeletal Hands:
triphalangeal thumbs
small or absent distal phalanges

Genitourinary Kidneys:
cystic renal dysplasia (less common)
renal aplasia (less common)

Skin Nails Hair Nails:
small or absent nails on the hands and feet

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation
dandy-walker malformation (rare)
more
Head And Neck Nose:
anteverted nares
broad nasal bridge
bulbous nasal tip
large nose

Head And Neck Face:
long philtrum
coarse facies

Head And Neck Mouth:
high-arched palate
downturned corners of the mouth
thick, everted lower lip

Cardiovascular Heart:
congenital heart defects (less common)

Skeletal Feet:
small or absent distal phalanges

Laboratory Abnormalities:
increased serum and urinary 2-oxoglutarate

Clinical features from OMIM:

220500

UMLS symptoms related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:


seizures

Drugs & Therapeutics for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Search Clinical Trials , NIH Clinical Center for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

Genetic Tests for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Genetic tests related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

# Genetic test Affiliating Genes
1 Digitorenocerebral Syndrome 30 TBC1D24

Anatomical Context for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

MalaCards organs/tissues related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

42
Bone, Heart, Skin, Cortex

Publications for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Articles related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

(show all 21)
# Title Authors Year
1
The Alberta Mental Health Act 2010 and Revolving Door Syndrome: Control, Care, and Identity in Making up People. ( 27527994 )
2016
2
Parkinsonism may be part of the symptom complex of DOOR syndrome. ( 24486243 )
2014
3
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. ( 24357154 )
2013
4
DOOR syndrome. ( 21743113 )
2011
5
DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging. ( 18440741 )
2009
6
Anaesthetic management of an adult patient with DOOR syndrome: a case report. ( 19830001 )
2009
7
A new case of DOOR syndrome. ( 18263975 )
2008
8
DOOR syndrome: clinical report, literature review and discussion of natural history. ( 17994565 )
2007
9
The revolving door syndrome: the Chinese COPD patients' perspectives. ( 17727594 )
2007
10
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. ( 17343268 )
2007
11
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. ( 12457410 )
2002
12
DOOR syndrome: report of three additional cases. ( 12002145 )
2002
13
Further delineation of the DOOR syndrome. ( 11045579 )
2000
14
Reversing the revolving door syndrome. How to find and keep quality care staff. ( 10154328 )
1996
15
Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. ( 7808978 )
1994
16
DOOR syndrome: additional case and literature review. ( 8205321 )
1994
17
Eronen syndrome identical with DOOR syndrome? ( 8500264 )
1993
18
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. ( 8256819 )
1993
19
Impact of involuntary outpatient commitment on the revolving-door syndrome in North Carolina. ( 2210692 )
1990
20
Discharges AMA and AWOL: a new "revolving door syndrome". ( 3054980 )
1988
21
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. ( 3812564 )
1987

Variations for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Gln20Glu VAR_070912 rs201257588
2 TBC1D24 p.Arg40Cys VAR_070913 rs398122966
3 TBC1D24 p.Arg242Cys VAR_070915 rs398122965
4 TBC1D24 p.Leu333Phe VAR_070916 rs797044548

ClinVar genetic disease variations for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh38 Chromosome 16, 2496267: 2496267
2 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh37 Chromosome 16, 2546268: 2546268
3 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh38 Chromosome 16, 2496461: 2496461
4 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh37 Chromosome 16, 2546462: 2546462
5 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
6 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
7 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh38 Chromosome 16, 2498253: 2498253
8 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh37 Chromosome 16, 2548254: 2548254
9 TBC1D24 NM_001199107.1(TBC1D24): c.1460dup (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh38 Chromosome 16, 2500425: 2500425
10 TBC1D24 NM_001199107.1(TBC1D24): c.1460dup (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh37 Chromosome 16, 2550426: 2550426
11 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
12 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
13 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh37 Chromosome 16, 2546267: 2546267
14 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh38 Chromosome 16, 2496266: 2496266
15 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh37 Chromosome 16, 2546207: 2546207
16 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh38 Chromosome 16, 2496206: 2496206
17 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
18 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
19 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh37 Chromosome 16, 2549426: 2549426
20 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh38 Chromosome 16, 2499425: 2499425

Expression for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Search GEO for disease gene expression data for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome.

Pathways for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

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