DOORS
MCID: DFN344
MIFTS: 55

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin 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 56 73
Doors Syndrome 56 12 52 25 58 36 29 6 15
Door Syndrome 56 12 74 52 25 58 73 54
Digitorenocerebral Syndrome 56 52 25 73 71
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 12 52 25 58
Autosomal Recessive Deafness-Onychodystrophy Syndrome 12 52 25 58
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 12 52 58
Eronen Syndrome 56 25 73
Drc Syndrome 56 25 73
Doors 56 12 73
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome 12 58
Brachydactyly Due to Absence of Distal Phalanges 56 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 25
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 25
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome 39
Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome 58
Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome 58
Deafness, Congenital Onychodystrophy, Recessive Form 43

Characteristics:

Orphanet epidemiological data:

58
doors syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


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,...

Genetics Home Reference : 25 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 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), and among its related pathways/superpathways is TBC/RABGAPs. The drugs Norepinephrine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and brain, and related phenotypes are global developmental delay and gingival overgrowth

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. As a probable cause of DOORS syndrome, mutations in TBC1D24 have been identified.

UniProtKB/Swiss-Prot : 73 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 : 74 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 478)
# Related Disease Score Top Affiliating Genes
1 chikungunya 11.6
2 dengue disease 11.5
3 deafness, congenital, with onychodystrophy, autosomal dominant 11.5
4 obsessive-compulsive disorder 11.4
5 autosomal dominant deafness-onychodystrophy syndrome 11.3
6 zika fever 11.2
7 triiodothyronine receptor auxiliary protein 10.6
8 acute myocardial infarction 10.5
9 myocardial infarction 10.5
10 ossification of the posterior longitudinal ligament of spine 10.4
11 migraine with or without aura 1 10.3
12 spondylosis 10.3
13 headache 10.3
14 ischemia 10.3
15 tremor 10.3
16 branchiootic syndrome 1 10.3
17 essential tremor 10.3
18 spinal stenosis 10.3
19 spondylosis, cervical 10.2
20 substance abuse 10.2
21 disease of mental health 10.2
22 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
23 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.2 USP6 TBC1D24 CDC16
24 epileptic encephalopathy, early infantile, 16 10.2 USP6 TBC1D24 CDC16
25 epilepsy 10.2
26 cerebral palsy 10.2
27 congestive heart failure 10.2
28 restless legs syndrome 10.2
29 cardiac arrest 10.2
30 radiculopathy 10.2
31 stroke, ischemic 10.1
32 dementia 10.1
33 cerebrovascular disease 10.1
34 neuropathy 10.1
35 cardiogenic shock 10.1
36 sleep apnea 10.1
37 heart disease 10.1
38 peripheral nervous system disease 10.1
39 vascular dementia 10.1
40 parkinson disease, late-onset 10.1
41 patent foramen ovale 10.1
42 polyneuropathy 10.1
43 personality disorder 10.1
44 human immunodeficiency virus type 1 10.0
45 malaria 10.0
46 migraine with aura 10.0
47 bell's palsy 10.0
48 migraine without aura 10.0
49 pneumonia 10.0
50 tbc1d24-related disorders 10.0

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 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
6 toenail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100797
7 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
8 wide nasal base 58 31 hallmark (90%) Very frequent (99-80%) HP:0012810
9 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
10 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
11 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
12 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
17 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
18 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
19 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
20 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
21 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
22 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
23 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
24 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
25 focal impaired awareness seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002384
26 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
27 short 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009237
28 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
29 increased urine alpha-ketoglutarate concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012402
30 aplasia/hypoplasia of the phalanges of the 2nd toe 58 31 frequent (33%) Frequent (79-30%) HP:0010347
31 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
32 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
33 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
34 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
35 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
36 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
37 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
38 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
39 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
40 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
41 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
42 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
43 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
44 dandy-walker malformation 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001305
45 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
46 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
47 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
48 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
49 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
50 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951

Symptoms via clinical synopsis from OMIM:

56
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

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


seizures

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):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Analgesics Phase 4
4 Adrenergic Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Antidepressive Agents Phase 4
8 Duloxetine Hydrochloride Phase 4
9 Psychotropic Drugs Phase 4
10 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
11 Respiratory System Agents Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Adrenergic beta-Agonists Phase 4
14 Albuterol Phase 4
15 Adrenergic Agonists Phase 4
16 Bronchodilator Agents Phase 4
17 Tocolytic Agents Phase 4
18
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
19
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
20
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
21 Hormone Antagonists Phase 3
22 Hormones Phase 3
23 Gastrointestinal Agents Phase 3
24 Antineoplastic Agents, Hormonal Phase 3
25 Antiemetics Phase 3
26 glucocorticoids Phase 3
27 Anti-Inflammatory Agents Phase 3
28
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
29
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492 6473866
30
Timolol Approved Phase 2 26839-75-8 5478 33624
31
Ipilimumab Approved Phase 2 477202-00-9
32
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
33
Gemcitabine Approved Phase 2 95058-81-4 60750
34
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
35
nivolumab Approved Phase 2 946414-94-4
36
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
37 Immunoglobulins Phase 1, Phase 2
38 Antibodies Phase 1, Phase 2
39 Liver Extracts Phase 1, Phase 2
40 Immunosuppressive Agents Phase 1, Phase 2
41 Adrenergic beta-Antagonists Phase 2
42 Adrenergic Antagonists Phase 2
43 Antihypertensive Agents Phase 2
44 Pharmaceutical Solutions Phase 2
45 Anti-Arrhythmia Agents Phase 2
46 Ophthalmic Solutions Phase 2
47 Antineoplastic Agents, Immunological Phase 2
48 Albumin-Bound Paclitaxel Phase 2
49
Nitric Oxide Approved Phase 1 10102-43-9 145068
50
Montelukast Approved Phase 1 158966-92-8 5281040

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 The Depression and Memory Trial Completed NCT02590874 Phase 4 Duloxetine;Placebo
2 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Ventrucular Septal Defect Patients With Persistant or Surgically Corrected Conditions - The VENTI Trial Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
3 Parenteral Corticosteroids as Adjuvant Therapy for Migraine Headaches Completed NCT00122278 Phase 3 Dexamethasone
4 Infusion of Third-party Mesenchymal Stem Cells After Renal or Liver Transplantation. A Phase I-II, Open-label, Clinical Study Unknown status NCT01429038 Phase 1, Phase 2
5 A Randomized, Double-Blinded, Placebo-Controlled, Cross Over Study Evaluating the Efficacy and Safety of Timolol Ophthalmic Solution as an Acute Treatment of Migraine Completed NCT03836664 Phase 2 Timolol;Placebo
6 Field Evaluation of Malaria Vector Control Using Traditional Plant-based Anti-mosquito Measures in Yunnan Province, P.R. China Completed NCT00116766 Phase 2
7 SQUINT (Squamous Immunotherapy Nivolumab-Ipilimumab Trial): An Open-label, Randomized, Parallel, Non Comparative, Phase II Trial of Nivolumab Plus Ipilimumab Versus Platinum-based Chemotherapy Plus Nivolumab in Chemonaive Metastatic or Recurrent Squamous-Cell Lung Cancer (SqLC) Recruiting NCT03823625 Phase 2 Nivolumab plus Ipilimumab;Platinum-based chemotherapy plus Nivolumab
8 The Protective Role of the Nose During Acute Exposure to Passive Smoking. Completed NCT01988467 Phase 1
9 Genotype Stratified Pharmacokinetic Study of Montelukast Completed NCT01086527 Phase 1 10 mg tablet of montelukast (Singulair)
10 Effectiveness of Seasonal Malaria Chemoprevention in Koulikoro, Mali Recruiting NCT04149106 Phase 1 Sulfadoxine pyrimethamine + Amodiaquin;Dihydroartemisinin piperaquin
11 The Effect of Low Level Ozone Exposure on Healthy Volunteers Withdrawn NCT00468221 Phase 1 Ozone Exposure
12 Effects of Sleep Quality on Melatonin Levels and Inflammatory Response After Major Abdominal Surgery in an Intensive Care Unit Unknown status NCT02824770 Bupivacaine (Bustesin®) via Pain Buster ® system;Tramadol HCl (Tramosel®) via PCA system (Gemstar®)
13 Assessment of Home/Work Simulation Tasks and Community Mobility Skills in the ReWalk Powered Exoskeleton in Persons With Spinal Cord Injury Unknown status NCT02118194
14 The Role of Th9 Cells Expression and Eosinophils Activity in the Course of Allergic Airway Diseases Unknown status NCT02214303
15 A Before-and-after Study to Evaluate Effects of Low-cost Interventions for Promoting Healthy Lifestyle Modifications Unknown status NCT01574040
16 Changes in Body Composition, Metabolic and Mechanical Responses to Hypoxic Walking Training in Obese Patients Unknown status NCT02241473
17 Effectiveness of Collaborative Tele-Mental Health Services for ADHD in Primary Care: A Randomized Trial in Dubai (ECTSAP- Dubai Trial) Unknown status NCT03559712
18 Aromatherapy for Management of Back Pain in the Emergency Department Unknown status NCT03377088
19 Effects of a Psychiatric Intensive Care Unit in an Acute Psychiatric Department. Completed NCT00184119
20 Health Effects of Indoor Air Filtration in Healthy Chinese Adults: An Intervention Study Completed NCT02712333
21 A Proposed Study of Atherosclerotic Plaques in Leg Arteries Completed NCT01803126
22 Cardiopulmonary Benefits of Reducing Indoor Particles of Outdoor Origin: a Randomized Double-blind Crossover Trial of Air Purifiers Completed NCT02239744
23 The Effect of Proximity on Flu-Shot Participation Completed NCT01455753
24 Magnetic Resonance Imaging to Measure Treatment Effects of Doxycycline and Rifampicin in Alzheimer's Disease Completed NCT00692588
25 Near Highway Pollution: From Research to Action Completed NCT04029129
26 Trabeculectomy With Mitomycin C Associated With Sub-conjunctival Injection of Ranibizumab Completed NCT00892398 ranibizumab
27 Barrow Randomized O.R. Traffic Trial Completed NCT01783769
28 Prevention of Healthcare Associated Infections in Bone Marrow Transplant Patients Completed NCT02463214
29 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
30 Noise Reduction Programme by Work Rules and Technical Devices (i.e.SoundEar-TM)for Surgical Theathres Completed NCT01612754
31 Home Evaluation of Visual Exit Barriers in Dementia-related Wandering Completed NCT00997425
32 An Interventional Study on the Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates in Healthy Adults: a Randomized Double-blinded Crossover Trial. Completed NCT03500614
33 Assessing Preoperative Falls as a Predictor for Postoperative Surgical Outcomes Completed NCT02771964
34 Effects of a Whole Body Vibration Training on Unstable Surface in Recreational Athletes With Chronic Ankle Instability Completed NCT02794194
35 Sustaining Transfers Through Affordable Research Translation (START): Knowledge Translation Interventions to Support the Uptake of Innovations in Continuing Care Settings Completed NCT01746459
36 Supporting Care and Independence at Home Completed NCT00189852
37 Doublecortin Like Kinase-1 as a Marker and Indicator of Treatment Response for Intestinal Stem Cells in Barrett's Esophagus and Progression to Esophageal Adenocarcinoma Completed NCT03526328
38 Evaluation of Essential Surgical Skills-Emergency Maternal and Child Health (ESS-EMCH) Training by Assessing the Doctors' Practices in Pakistan Completed NCT00880204
39 Getting Older Adults OUT-of-doors (GO-OUT): A Randomized Controlled Trial of a Community-based Outdoor Walking Program Completed NCT02339467
40 The Effect of Lullaby Intervention on Anxiety and Prenatal Attachment in Women With High-risk Pregnancy: A Randomised Controlled Study Completed NCT04064320
41 Fázis II, randomizált, kettős Vak vizsgálat a bőr metasztázisok kezelésére kálcium elektroporációval Completed NCT03628417
42 A Longitudinal Assessment of Cognitive Impairment in Advanced CKD Transitioning Into Renal Replacement Therapy Completed NCT03382444
43 Increasing Equitable Access to Safe Deliveries in Zambia Completed NCT02620436
44 STOP-BANG Score and Cephalometry in Prediction of Difficult Airway in Patients at Risk of Obstructive Sleep Apnoea Completed NCT03105388
45 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
46 Validating Reward-related Biomarkers to Facilitate Development of New Treatments for Anhedonia and Reward Processing Deficits in Schizophrenia and Major Depressive Disorder Recruiting NCT04024371
47 Innovative Physiotherapy in Stroke Rehabilitation During the Subacute Stage - a Prospective Randomized Single Blinded Controlled Trial and a Qualitative Study Recruiting NCT04069767
48 Mitigating the Health Effects of Desert Dust Storms Using Exposure-Reduction Approaches: Assessment of Health Outcomes in Children With Asthma and in Adults With Atrial Fibrillation During Desert Dust Storms (With vs Without Interventions) Recruiting NCT03503812
49 Effects of Structured Exercise Regime for the Management of Gestational Diabetes Mellitus (GDM) - Bio Psychosocial Perspectives. Recruiting NCT04146740
50 A Randomized Clinical Trial of a Structured Function-Based Elopement Treatment Program Recruiting NCT03899831

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 29

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

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

40
Bone, Heart, Brain, Thyroid, Tongue, Skin, Liver

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

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

(show all 41)
# Title Authors PMID Year
1
The genetic basis of DOORS syndrome: an exome-sequencing study. 6 56 61
24291220 2014
2
TBC1D24-Related Disorders 6 61
25719194 2015
3
DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection. 56
18438887 2008
4
DOOR syndrome: clinical report, literature review and discussion of natural history. 56
17994565 2007
5
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. 56
12457410 2002
6
DOOR syndrome: report of three additional cases. 56
12002145 2002
7
Further delineation of the DOOR syndrome. 56
11045579 2000
8
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. 56
8256819 1993
9
Eronen syndrome identical with DOOR syndrome? 56
8500264 1993
10
Digito-reno-cerebral syndrome: confirmation of Eronen syndrome. 56
1424243 1992
11
The cerebro-reno-digital syndromes: a new community. 56
2015691 1991
12
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. 56
3812564 1987
13
New syndrome: a digito-reno-cerebral syndrome. 56
4050858 1985
14
Additional case report of the DOOR syndrome. 56
6507487 1984
15
Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. 56
6707793 1984
16
Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. 56
7180877 1982
17
The deafness, onycho-osteo-dystrophy, mental retardation syndrome. Two new cases. 56
7287010 1981
18
Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome). 56
1132883 1975
19
Triphalangy of thumbs and great toes. 56
5458564 1970
20
[Familial deafness with osteo-onycho-dysplasia]. 56
5516283 1970
21
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons. 61
30858606 2019
22
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 61
31226716 2019
23
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 61
31256876 2019
24
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. 61
30245510 2019
25
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. 61
30335140 2019
26
[Clinical phenotypes of TBC1D24 gene related epilepsy]. 61
30180405 2018
27
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome. 61
29176366 2018
28
Unresolved questions regarding human hereditary deafness. 61
27259978 2017
29
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 61
28003643 2017
30
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 61
28663785 2017
31
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. 61
27669036 2016
32
Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report. 61
26023614 2015
33
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 61
25769375 2015
34
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. 61
25557349 2015
35
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 61
25169878 2014
36
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 61
25169651 2014
37
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 61
24729539 2014
38
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 61
24729547 2014
39
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 54
17343268 2007
40
[Onychodystrophy, sensory and mental deficits, neonatal seizures ("DOORS syndrome")]. 61
2783009 1989
41
[Doors syndrome]. 61
4003962 1985

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

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

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)SNV Pathogenic 91396 rs398122966 16:2546267-2546267 16:2496266-2496266
2 TBC1D24 NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)SNV Pathogenic 91397 rs201257588 16:2546207-2546207 16:2496206-2496206
3 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs)deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
4 TBC1D24 NM_001199107.2(TBC1D24):c.1206+5G>ASNV Pathogenic 91399 rs398122968 16:2549426-2549426 16:2499425-2499425
5 TBC1D24 NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg)SNV Pathogenic 183153 rs797044547 16:2546462-2546462 16:2496461-2496461
6 TBC1D24 NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)SNV Pathogenic 183152 rs760474458 16:2546268-2546268 16:2496267-2496267
7 TBC1D24 NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)SNV Pathogenic 183155 rs797044548 16:2548254-2548254 16:2498253-2498253
8 TBC1D24 NM_001199107.2(TBC1D24):c.1460dup (p.His487fs)duplication Pathogenic 183156 rs797044549 16:2550425-2550426 16:2500424-2500425
9 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
10 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)SNV Conflicting interpretations of pathogenicity 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
11 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)SNV Conflicting interpretations of pathogenicity 183154 rs747821285 16:2546477-2546477 16:2496476-2496476
12 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
13 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
14 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)SNV Uncertain significance 626176 rs370477379 16:2546883-2546883 16:2496882-2496882

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 10.3 TBC1D24 RAB35

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 stereocilium GO:0032420 8.62 PCDH15 CDH23

Biological processes 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 cell maintenance GO:0045494 9.32 PCDH15 CDH23
2 inner ear receptor cell stereocilium organization GO:0060122 9.26 PCDH15 CDH23
3 sensory perception of light stimulus GO:0050953 9.16 PCDH15 CDH23
4 equilibrioception GO:0050957 8.96 PCDH15 CDH23
5 negative regulation of oxidative stress-induced neuron death GO:1903204 8.8 TLDC2 NCOA7 MEAK7

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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