DOORS
MCID: DFN344
MIFTS: 37

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
Doors Syndrome 58 54 26 38 30 6
Door Syndrome 58 77 54 26 76 56
Digitorenocerebral Syndrome 58 54 26 76 74
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 doors 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 heart, bone and skin, and related phenotypes are eeg abnormality and gingival overgrowth

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 162)
# 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 11.1
6 zika fever 11.1
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 10.1
13 stroke, ischemic 10.1
14 epilepsy 10.1
15 eosinophilia-myalgia syndrome 10.1
16 carney complex, type 1 10.0
17 caronte 10.0
18 acute myocardial infarction 10.0
19 patent foramen ovale 10.0
20 ischemia 10.0
21 radiculopathy 10.0
22 bornholm eye disease 10.0
23 nance-horan syndrome 10.0
24 malaria 10.0
25 spinal stenosis 10.0
26 heart disease 10.0
27 dementia 10.0
28 migraine with or without aura 1 9.9
29 arts syndrome 9.9
30 ossification of the posterior longitudinal ligament of spine 9.9
31 diabetic neuropathy 9.9
32 ischemic heart disease 9.9
33 chagas disease 9.9
34 disease of mental health 9.9
35 cerebrovascular disease 9.9
36 neuropathy 9.9
37 polymyositis 9.9
38 cardiogenic shock 9.9
39 blood group, langereis system 9.8
40 multiple sclerosis 9.8
41 pulmonary fibrosis, idiopathic 9.8
42 scleroderma, familial progressive 9.8
43 spondylosis, cervical 9.8
44 frontotemporal dementia 9.8
45 horns in sheep 9.8
46 mycobacterium tuberculosis 1 9.8
47 dengue virus 9.8
48 neutropenia 9.8
49 pulmonary fibrosis 9.8
50 cardiac arrest 9.8

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 top 50) (show all 103)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 33 hallmark (90%) HP:0002353
2 gingival overgrowth 33 hallmark (90%) HP:0000212
3 global developmental delay 33 hallmark (90%) HP:0001263
4 wide nasal bridge 33 hallmark (90%) HP:0000431
5 long philtrum 33 hallmark (90%) HP:0000343
6 wide nasal base 33 hallmark (90%) HP:0012810
7 toenail dysplasia 33 hallmark (90%) HP:0100797
8 absent fingernail 33 hallmark (90%) HP:0001817
9 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
10 hypertelorism 33 frequent (33%) HP:0000316
11 low-set ears 33 frequent (33%) HP:0000369
12 coarse facial features 33 frequent (33%) HP:0000280
13 thick lower lip vermilion 33 frequent (33%) HP:0000179
14 epicanthus 33 frequent (33%) HP:0000286
15 thickened nuchal skin fold 33 frequent (33%) HP:0000474
16 generalized tonic-clonic seizures 33 frequent (33%) HP:0002069
17 clinodactyly of the 5th finger 33 frequent (33%) HP:0004209
18 focal impaired awareness seizure 33 frequent (33%) HP:0002384
19 open mouth 33 frequent (33%) HP:0000194
20 downturned corners of mouth 33 frequent (33%) HP:0002714
21 polyhydramnios 33 frequent (33%) HP:0001561
22 bulbous nose 33 frequent (33%) HP:0000414
23 thin upper lip vermilion 33 frequent (33%) HP:0000219
24 low anterior hairline 33 frequent (33%) HP:0000294
25 hyporeflexia 33 frequent (33%) HP:0001265
26 short distal phalanx of finger 33 frequent (33%) HP:0009882
27 poor suck 33 frequent (33%) HP:0002033
28 short 5th finger 33 frequent (33%) HP:0009237
29 infantile muscular hypotonia 33 frequent (33%) HP:0008947
30 increased urine alpha-ketoglutarate concentration 33 frequent (33%) HP:0012402
31 aplasia/hypoplasia of the phalanges of the 2nd toe 33 frequent (33%) HP:0010347
32 frontal bossing 33 occasional (7.5%) HP:0002007
33 narrow palate 33 occasional (7.5%) HP:0000189
34 widely spaced teeth 33 occasional (7.5%) HP:0000687
35 microcephaly 33 occasional (7.5%) HP:0000252
36 optic atrophy 33 occasional (7.5%) HP:0000648
37 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
38 brachycephaly 33 occasional (7.5%) HP:0000248
39 cleft palate 33 occasional (7.5%) HP:0000175
40 peripheral neuropathy 33 occasional (7.5%) HP:0009830
41 respiratory distress 33 occasional (7.5%) HP:0002098
42 broad alveolar ridges 33 occasional (7.5%) HP:0000187
43 myoclonus 33 occasional (7.5%) HP:0001336
44 prominent occiput 33 occasional (7.5%) HP:0000269
45 myopia 33 occasional (7.5%) HP:0000545
46 broad nasal tip 33 occasional (7.5%) HP:0000455
47 nephrocalcinosis 33 occasional (7.5%) HP:0000121
48 triphalangeal thumb 33 occasional (7.5%) HP:0001199
49 dandy-walker malformation 33 occasional (7.5%) HP:0001305
50 autistic behavior 33 occasional (7.5%) HP:0000729

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 Doors 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
Heart, Bone, Skin, Lung, T Cells, Cortex, Eye

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

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

# Title Authors Year
1
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome. ( 29176366 )
2018
2
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
3
The genetic basis of DOORS syndrome: an exome-sequencing study. ( 24291220 )
2014

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 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
2 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
3 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh37 Chromosome 16, 2546267: 2546267
4 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh38 Chromosome 16, 2496266: 2496266
5 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh37 Chromosome 16, 2546207: 2546207
6 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh38 Chromosome 16, 2496206: 2496206
7 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
8 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
9 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh37 Chromosome 16, 2549426: 2549426
10 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh38 Chromosome 16, 2499425: 2499425
11 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh38 Chromosome 16, 2496267: 2496267
12 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh37 Chromosome 16, 2546268: 2546268
13 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh38 Chromosome 16, 2496461: 2496461
14 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh37 Chromosome 16, 2546462: 2546462
15 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
16 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
17 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh38 Chromosome 16, 2498253: 2498253
18 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh37 Chromosome 16, 2548254: 2548254
19 TBC1D24 NM_001199107.1(TBC1D24): c.1460dup (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh38 Chromosome 16, 2500425: 2500425
20 TBC1D24 NM_001199107.1(TBC1D24): c.1460dup (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh37 Chromosome 16, 2550426: 2550426
21 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh38 Chromosome 16, 2497019: 2497019
22 TBC1D24 NM_001199107.1(TBC1D24): c.871G> A (p.Ala291Thr) single nucleotide variant Uncertain significance rs375307187 GRCh37 Chromosome 16, 2547020: 2547020
23 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh37 Chromosome 16, 2547027: 2547027
24 TBC1D24 NM_001199107.1(TBC1D24): c.878G> A (p.Arg293His) single nucleotide variant Uncertain significance rs199700840 GRCh38 Chromosome 16, 2497026: 2497026
25 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 2546883: 2546883
26 TBC1D24 NM_001199107.1(TBC1D24): c.734T> C (p.Leu245Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 2496882: 2496882

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

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

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