DOORS
MCID: DFN344
MIFTS: 59

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 57
Doors Syndrome 57 11 19 42 58 28 5 14
Door Syndrome 57 11 19 42 58 75 73 53
Digitorenocerebral Syndrome 57 19 42 73 71
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 11 19 42 58
Autosomal Recessive Deafness-Onychodystrophy Syndrome 11 19 42 58
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 11 19 58
Eronen Syndrome 57 42 73
Drc Syndrome 57 42 73
Doors 57 11 73
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome 11 58
Brachydactyly Due to Absence of Distal Phalanges 57 73
Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, and Seizures Syndrome 73
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome 58
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 58
Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome 42
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 42
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome 38
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome 58
Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome 58
Deafness, Congenital Onychodystrophy, Recessive Form 43

Characteristics:


Inheritance:

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome: Autosomal recessive 57
Doors Syndrome: Autosomal recessive 58

Prevelance:

Doors Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Doors Syndrome: Infancy,Neonatal 58

Age Of Death:

Doors Syndrome: any age 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
progressive disorder
door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures
presence of additional features is variable


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


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

MedlinePlus Genetics: 42 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.Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder.The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs).The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur.Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated.

MalaCards based summary: Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome, also known as doors syndrome, is related to deafness, autosomal dominant 65 and sensorineural hearing loss, 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), and among its related pathways/superpathways are Sensory processing of sound and "Aminoglycoside Ototoxicity Pathway, Adverse Drug Reaction". The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and thyroid, and related phenotypes are eeg abnormality and global developmental delay

GARD: 19 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 intellectual disability (represented by the "R"). In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.

OMIM®: 57 DOOR syndrome is an autosomal recessive disorder characterized by Deafness, Onychodystrophy, Osteodystrophy, and mental Retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. See also DDOD syndrome (124480), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation. See also OORS syndrome (619356), caused by mutation in the PIGF gene (600153), which shows overlapping features with the notable lack of deafness. (220500) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 A syndrome characterized by sensorineural deafness, intellectual disability, 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.

Disease Ontology: 11 A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has material basis in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3.

Orphanet: 58 A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

Wikipedia: 75 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 209)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 65 29.9 USP6 TBC1D24 CDH23 CDC16
2 sensorineural hearing loss 29.3 WHRN TBC1D24 PCDH15 MYO7A CDH23 ATP6V1B2
3 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 11.0
4 dengue disease 11.0
5 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.3 TBC1D24 CDC16
6 glass syndrome 10.2
7 nail disorder, nonsyndromic congenital, 9 10.2
8 developmental and epileptic encephalopathy 16 10.2 USP6 TBC1D24 NCOA7 CDC16
9 retinitis pigmentosa-deafness syndrome 10.2 MYO7A CDH23
10 viral infectious disease 10.2
11 deafness, autosomal recessive 83 10.1 MYO7A CDH23
12 episodic ataxia, type 8 10.1 TBC1D24 PRRT2
13 acute hemorrhagic leukoencephalitis 10.1 MYO7A CDH23
14 baraitser-winter syndrome 10.1 TBC1D21 CDH23
15 deafness, autosomal recessive 57 10.1 WHRN CDH23
16 drug-induced hearing loss 10.1 MYO7A CDH23
17 deafness, autosomal recessive 66 10.1 PCDH15 CDH23
18 martsolf syndrome 1 10.1 TLDC2 TBC1D24 NCOA7 MEAK7 CDC16
19 dfnb1 10.1 PCDH15 MYO7A
20 schizophrenia 10.1
21 alacrima, achalasia, and mental retardation syndrome 10.1
22 visual epilepsy 10.1
23 usher syndrome, type ij 10.1 WHRN PCDH15
24 warburg micro syndrome 1 10.1 TBC1D23 RAB35 ARF6
25 usher syndrome, type iid 10.1 WHRN MYO7A
26 deafness, autosomal recessive 79 10.1 WHRN CDH23
27 early infantile epileptic encephalopathy 10.0 TLDC2 TBC1D24 PRRT2 MEAK7
28 deafness, autosomal recessive 37 10.0 PCDH15 MYO7A CDH23
29 parkinson disease, late-onset 10.0
30 neurodegeneration with brain iron accumulation 2a 10.0
31 dementia 10.0
32 usher syndrome, type if 10.0 PCDH15 MYO7A CDH23
33 autosomal recessive nonsyndromic deafness 3 10.0 WHRN MYO7A CDH23
34 usher syndrome, type ig 10.0 WHRN MYO7A CDH23
35 vestibular disease 10.0 PCDH15 MYO7A CDH23
36 deafness, autosomal dominant 9 10.0 MYO7A CDH23
37 digenic disease 10.0 PCDH15 MYO7A CDH23
38 ear malformation 10.0 PCDH15 MYO7A CDH23
39 autosomal recessive nonsyndromic deafness 36 10.0 WHRN PCDH15 CDH23
40 deafness, autosomal dominant 25 10.0 WHRN MYO7A CDH23
41 nonsyndromic hearing loss 10.0 PCDH15 MYO7A CDH23
42 deafness, autosomal recessive 67 10.0 WHRN PCDH15 CDH23
43 stickler syndrome 10.0 PCDH15 MYO7A CDH23
44 pendred syndrome 10.0 PCDH15 MYO7A CDH23
45 deafness, autosomal recessive 86 9.9 WHRN USP6 TBC1D24 CDH23 CDC16
46 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
47 hyperphenylalaninemia, bh4-deficient, a 9.9
48 arts syndrome 9.9
49 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
50 fanconi anemia, complementation group e 9.9

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:

58 30 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
3 gingival overgrowth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000212
4 wide nasal bridge 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000431
5 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
6 long philtrum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000343
7 toenail dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100797
8 absent fingernail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001817
9 wide nasal base 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012810
10 coarse facial features 58 30 Very rare (1%) Frequent (79-30%)
HP:0000280
11 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
12 thick lower lip vermilion 58 30 Very rare (1%) Frequent (79-30%)
HP:0000179
13 low-set ears 58 30 Very rare (1%) Frequent (79-30%)
HP:0000369
14 thickened nuchal skin fold 58 30 Very rare (1%) Frequent (79-30%)
HP:0000474
15 epicanthus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000286
16 open mouth 58 30 Very rare (1%) Frequent (79-30%)
HP:0000194
17 downturned corners of mouth 58 30 Very rare (1%) Frequent (79-30%)
HP:0002714
18 clinodactyly of the 5th finger 58 30 Very rare (1%) Frequent (79-30%)
HP:0004209
19 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
20 thin upper lip vermilion 58 30 Very rare (1%) Frequent (79-30%)
HP:0000219
21 low anterior hairline 58 30 Very rare (1%) Frequent (79-30%)
HP:0000294
22 bulbous nose 58 30 Very rare (1%) Frequent (79-30%)
HP:0000414
23 hyporeflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001265
24 short distal phalanx of finger 58 30 Very rare (1%) Frequent (79-30%)
HP:0009882
25 poor suck 58 30 Frequent (33%) Frequent (79-30%)
HP:0002033
26 short 5th finger 58 30 Very rare (1%) Frequent (79-30%)
HP:0009237
27 infantile muscular hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008947
28 focal impaired awareness seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002384
29 increased urine alpha-ketoglutarate concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0012402
30 aplasia/hypoplasia of the phalanges of the 2nd toe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010347
31 bilateral tonic-clonic seizure 30 Frequent (33%) HP:0002069
32 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
33 narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000189
34 widely spaced teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000687
35 microcephaly 58 30 Very rare (1%) Occasional (29-5%)
HP:0000252
36 optic atrophy 58 30 Very rare (1%) Occasional (29-5%)
HP:0000648
37 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
38 brachycephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000248
39 myoclonus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001336
40 cleft palate 58 30 Very rare (1%) Occasional (29-5%)
HP:0000175
41 prominent occiput 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000269
42 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
43 dandy-walker malformation 58 30 Occasional (7.5%) Very rare (<4-1%)
HP:0001305
44 nephrocalcinosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000121
45 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
46 capillary hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005306
47 triphalangeal thumb 58 30 Very rare (1%) Occasional (29-5%)
HP:0001199
48 respiratory distress 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002098
49 aspiration pneumonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011951
50 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 Ears:
low-set ears
deafness, sensorineural, profound

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

Head And Neck Head:
microcephaly
narrow bifrontal diameter

Head And Neck Eyes:
optic atrophy
blindness
high myopia
cataracts

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 (Updated 24-Oct-2022)

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


seizures

MGI Mouse Phenotypes related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.1 ATP6V1B2 CDH23 MYO7A PCDH15 TBC1D24 WHRN

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

Drugs for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
2
Tannic acid Approved 1401-55-4 16129878 16129778

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Avoiding Cardiopulmonary By-pass During Coronary Artery Bypass Surgery for Ischemic Heart Disease in Elderly Patients: The Danish On-pump, Off-pump Randomization Study (DOORS) Completed NCT00123981
2 Getting Older Adults OUT-of-doors (GO-OUT): A Randomized Controlled Trial of a Community-based Outdoor Walking Program Completed NCT02339467
3 Testing the Efficacy of Opening Doors: A Career Guidance Intervention for Individuals With Psychiatric Disabilities Completed NCT03409991
4 A Trial of "Opening Doors to Recovery" for Persons With Serious Mental Illnesses Completed NCT04612777
5 Reducing Disparities in Early Intervention Use: The Opening Doors to Early Intervention Study Active, not recruiting NCT03625115

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

Cochrane evidence based reviews: deafness, congenital onychodystrophy, recessive form

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 28 TBC1D24

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

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

MalaCards : Skin, Eye, Thyroid, Tongue, Heart, Bone, Brain
ODiseA: Kidney

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

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

(show top 50) (show all 4182)
# Title Authors PMID Year
1
The genetic basis of DOORS syndrome: an exome-sequencing study. 62 57 5
24291220 2014
2
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 62 5
25769375 2015
3
TBC1D24-Related Disorders 62 5
25719194 2015
4
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 62 5
25169651 2014
5
DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection. 62 57
18438887 2008
6
DOOR syndrome: clinical report, literature review and discussion of natural history. 62 57
17994565 2007
7
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. 62 57
12457410 2002
8
DOOR syndrome: report of three additional cases. 62 57
12002145 2002
9
Further delineation of the DOOR syndrome. 62 57
11045579 2000
10
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. 62 57
8256819 1993
11
Eronen syndrome identical with DOOR syndrome? 62 57
8500264 1993
12
Digito-reno-cerebral syndrome: confirmation of Eronen syndrome. 62 57
1424243 1992
13
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. 62 57
3812564 1987
14
Additional case report of the DOOR syndrome. 62 57
6507487 1984
15
Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. 62 57
7180877 1982
16
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 5
28292732 2017
17
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 5
28428906 2017
18
The cerebro-reno-digital syndromes: a new community. 57
2015691 1991
19
New syndrome: a digito-reno-cerebral syndrome. 57
4050858 1985
20
Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. 57
6707793 1984
21
The deafness, onycho-osteo-dystrophy, mental retardation syndrome. Two new cases. 57
7287010 1981
22
Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome). 57
1132883 1975
23
Triphalangy of thumbs and great toes. 57
5458564 1970
24
[Familial deafness with osteo-onycho-dysplasia]. 57
5516283 1970
25
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 53 62
17343268 2007
26
Measuring PM2.5 concentrations from secondhand tobacco vs. marijuana smoke in 9 rooms of a detached 2-story house. 62
36037897 2022
27
Recent advancement in conjugated polymers based photocatalytic technology for air pollutants abatement: Cases of CO2, NOx, and VOCs. 62
36087730 2022
28
Choline kinase: An underappreciated rheumatoid arthritis therapeutic target. 62
36206833 2022
29
EdgeNets: Edge Varying Graph Neural Networks. 62
34516371 2022
30
The mechanism of action and clinical value of PROTACs: A graphical review. 62
35995302 2022
31
An overview of synthesis, characterization, applications and associated adverse effects of bioactive nanoparticles. 62
35863448 2022
32
Behind closed doors. A case study exploring the lived experiences of a family of a person with the behavioral variant of frontotemporal dementia. 62
36164995 2022
33
High-throughput 3D microvessel-on-a-chip model to study defective angiogenesis in systemic sclerosis. 62
36209279 2022
34
Addictive and other mental disorders: a call for a standardized definition of dual disorders. 62
36229453 2022
35
If the Doors of Perception Were Cleansed, Would Chronic Pain be Relieved? Evaluating the Benefits and Risks of Psychedelics. 62
35643270 2022
36
Behind Closed Doors: A Thematic Analysis of Diabetes Community Health Worker Home Visit Content. 62
35985028 2022
37
Possibilities of reducing the number of welds on rail vehicle doors. 62
36207357 2022
38
Improving menstrual equity in the USA: perspectives from trans and non-binary people assigned female at birth and health care providers. 62
34365908 2022
39
The Current State of Mobile Apps Owned by Large Pediatric Hospitals in the United States: Systematic Search and Analysis on Google Play and Apple App Stores. 62
36201385 2022
40
High Permittivity Polymer Composites on the Basis of Long Single-Walled Carbon Nanotubes: The Role of the Nanotube Length. 62
36234671 2022
41
House modifications for preventing malaria. 62
36200610 2022
42
Convivial Connection between Staff and Customer Is Key to Maximising Profitable Experiences: An Australian Cellar Door Perspective. 62
36230188 2022
43
Experiences of Organisations of (or That Serve) Persons with Disabilities during the COVID-19 Pandemic and National Lockdown Period in South Africa. 62
36231940 2022
44
Drug Delivery in Plants Using Silk Microneedles. 62
36245320 2022
45
Basis function approach for diffractive pattern generation with Dammann vortex metasurfaces. 62
36197982 2022
46
Built Environment Design Interventions at the Exits of Secured Dementia Care Units: A Review of the Empirical Literature. 62
36214202 2022
47
Sericin-Based Bio-Inspired Nano-Engineering of Heterometallic AgAu Nanocubes for Attomolar Mefenamic Acid Sensing in the Mobile Phone-Based Surface Plasmon-Coupled Interface. 62
36122249 2022
48
Assessing program fidelity to critically reflect on the suitability of Critical Time Intervention to facilitate exiting sex work. 62
36190345 2022
49
Effectiveness of Manual Terminal Cleaning Varies on High-Touch Surfaces Near the Operative Field. 62
36032796 2022
50
An Exploratory Study Testing Environmental Wayfinding Aids as an Intervention for Children With Autism. 62
35822221 2022

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

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

5 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D24 NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) SNV Pathogenic
91397 rs201257588 GRCh37: 16:2546207-2546207
GRCh38: 16:2496206-2496206
2 TBC1D24 NM_001199107.2(TBC1D24):c.1206+5G>A SNV Pathogenic
91399 rs398122968 GRCh37: 16:2549426-2549426
GRCh38: 16:2499425-2499425
3 TBC1D24 NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) DUP Pathogenic
183156 rs797044549 GRCh37: 16:2550425-2550426
GRCh38: 16:2500424-2500425
4 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Pathogenic
Likely Pathogenic
207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
5 TBC1D24 NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) DEL Pathogenic
1071941 GRCh37: 16:2546786-2546937
GRCh38: 16:2496785-2496936
6 TBC1D24 NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) SNV Pathogenic
183152 rs760474458 GRCh37: 16:2546268-2546268
GRCh38: 16:2496267-2496267
7 TBC1D24 NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) SNV Pathogenic
183153 rs797044547 GRCh37: 16:2546462-2546462
GRCh38: 16:2496461-2496461
8 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) SNV Pathogenic
183154 rs747821285 GRCh37: 16:2546477-2546477
GRCh38: 16:2496476-2496476
9 TBC1D24 NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) SNV Pathogenic
183155 rs797044548 GRCh37: 16:2548254-2548254
GRCh38: 16:2498253-2498253
10 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) SNV Pathogenic
207505 rs747538224 GRCh37: 16:2546994-2546994
GRCh38: 16:2496993-2496993
11 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs) DEL Pathogenic
91398 rs398122967 GRCh37: 16:2548263-2548263
GRCh38: 16:2498262-2498262
12 TBC1D24 NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) SNV Pathogenic
91396 rs398122966 GRCh37: 16:2546267-2546267
GRCh38: 16:2496266-2496266
13 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Pathogenic
91395 rs398122965 GRCh37: 16:2546873-2546873
GRCh38: 16:2496872-2496872
14 TBC1D24 NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) SNV Likely Pathogenic
49 rs267607105 GRCh37: 16:2550823-2550823
GRCh38: 16:2500822-2500822
15 TBC1D24 NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) SNV Likely Pathogenic
Not Provided
982832 rs483352866 GRCh37: 16:2546682-2546682
GRCh38: 16:2496681-2496681
16 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely Pathogenic
242486 rs863224932 GRCh37: 16:2549917-2549917
GRCh38: 16:2499916-2499916
17 TBC1D24 NM_001199107.2(TBC1D24):c.965+2T>C SNV Likely Pathogenic
1029242 rs755370981 GRCh37: 16:2547116-2547116
GRCh38: 16:2497115-2497115
18 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain Significance
207519 rs199700840 GRCh37: 16:2547027-2547027
GRCh38: 16:2497026-2497026
19 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain Significance
207506 rs375307187 GRCh37: 16:2547020-2547020
GRCh38: 16:2497019-2497019
20 TBC1D24 NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) SNV Uncertain Significance
208413 rs141399869 GRCh37: 16:2550293-2550293
GRCh38: 16:2500292-2500292
21 TBC1D24 NM_001199107.2(TBC1D24):c.-116+125A>C SNV Uncertain Significance
1696584 GRCh37: 16:2525296-2525296
GRCh38: 16:2475295-2475295
22 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain Significance
626176 rs370477379 GRCh37: 16:2546883-2546883
GRCh38: 16:2496882-2496882
23 TBC1D24 NM_001199107.2(TBC1D24):c.1142+272T>C SNV Not Provided
1213711 GRCh37: 16:2548669-2548669
GRCh38: 16:2498668-2498668
24 TBC1D24 NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) SNV Not Provided
100677 rs587777147 GRCh37: 16:2546357-2546357
GRCh38: 16:2496356-2496356
25 TBC1D24 NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) SNV Not Provided
375708 rs1057519630 GRCh37: 16:2546553-2546553
GRCh38: 16:2496552-2496552

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

73
# 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

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,...

Pathways related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.23 WHRN PCDH15 MYO7A CDH23
2 10.21 PCDH15 CDH23

GO Terms for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

Cellular components related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.73 WHRN MYO7A CDH23
2 cytoplasmic vesicle GO:0031410 9.7 TBC1D24 TBC1D23 TBC1D21 RAB35 PRRT2 ATP6V1B2
3 synapse GO:0045202 9.65 WHRN TBC1D24 PRRT2 PCDH15 MYO7A CDH23
4 stereocilium GO:0032420 9.23 WHRN PCDH15 MYO7A CDH23

Biological processes related to Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 10.11 WHRN PCDH15 MYO7A CDH23
2 equilibrioception GO:0050957 9.85 CDH23 MYO7A PCDH15
3 protein localization to endosome GO:0036010 9.83 RAB35 ARF6
4 inner ear development GO:0048839 9.8 PCDH15 MYO7A CDH23
5 negative regulation of peptidyl-cysteine S-nitrosylation GO:1902083 9.8 NCOA7 OXR1 TBC1D24
6 post-embryonic animal organ morphogenesis GO:0048563 9.76 MYO7A CDH23
7 negative regulation of cellular response to oxidative stress GO:1900408 9.73 OXR1 NCOA7
8 auditory receptor cell stereocilium organization GO:0060088 9.7 WHRN PCDH15 MYO7A CDH23
9 inner ear receptor cell differentiation GO:0060113 9.65 WHRN MYO7A
10 inner ear receptor cell stereocilium organization GO:0060122 9.65 WHRN PCDH15 MYO7A CDH23
11 inner ear auditory receptor cell differentiation GO:0042491 9.58 PCDH15 MYO7A CDH23
12 negative regulation of oxidative stress-induced neuron death GO:1903204 9.56 TBC1D24 OXR1 NCOA7 MEAK7
13 sensory perception of light stimulus GO:0050953 9.23 WHRN PCDH15 MYO7A CDH23

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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