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 57 72
Doors Syndrome 57 12 20 43 58 36 29 6 15
Door Syndrome 57 12 73 20 43 58 72 54
Digitorenocerebral Syndrome 57 20 43 72 70
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 12 20 43 58
Autosomal Recessive Deafness-Onychodystrophy Syndrome 12 20 43 58
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 12 20 58
Eronen Syndrome 57 43 72
Drc Syndrome 57 43 72
Doors 57 12 72
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome 12 58
Brachydactyly Due to Absence of Distal Phalanges 57 72
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome 58
Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 58
Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome 43
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 43
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 44

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®:

57 (Updated 20-May-2021)
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,...

MedlinePlus Genetics : 43 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-onychodystrophy syndrome and deafness, autosomal dominant 65, 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 Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and heart, and related phenotypes are eeg abnormality and global developmental delay

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.

GARD : 20 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 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 138)
# Related Disease Score Top Affiliating Genes
1 deafness-onychodystrophy syndrome 30.3 TBC1D24 ATP6V1B2
2 deafness, autosomal dominant 65 29.4 USP6 TBC1D24 PCDH15 CDC16
3 autosomal dominant deafness-onychodystrophy syndrome 11.1
4 dengue disease 10.9
5 branchiootic syndrome 1 10.2
6 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.1 USP6 TBC1D24 CDC16
7 developmental and epileptic encephalopathy 16 10.1 USP6 TBC1D24 CDC16
8 alacrima, achalasia, and mental retardation syndrome 10.1
9 dementia 10.1
10 seizure disorder 10.1
11 disease of mental health 10.0
12 neonatal period electroclinical syndrome 10.0 TBC1D24 DEPDC5
13 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
14 arts syndrome 9.9
15 malaria 9.9
16 disease by infectious agent 9.9
17 amnestic disorder 9.9
18 rare deafness 9.8 PCDH15 CDH23
19 usher syndrome, type ik 9.8 PCDH15 CDH23
20 diaphragmatic hernia, congenital 9.8
21 fryns syndrome 9.8
22 marinesco-sjogren syndrome 9.8
23 neurodegeneration with brain iron accumulation 2a 9.8
24 3-methylglutaconic aciduria, type iii 9.8
25 rudiger syndrome 9.8
26 schinzel-giedion midface retraction syndrome 9.8
27 sjogren syndrome 9.8
28 yemenite deaf-blind hypopigmentation syndrome 9.8
29 developmental and epileptic encephalopathy 80 9.8
30 sensorineural hearing loss 9.8
31 microcephaly 9.8
32 hydronephrosis 9.8
33 polyneuropathy 9.8
34 ventricular septal defect 9.8
35 heart septal defect 9.8
36 status epilepticus 9.8
37 atrial heart septal defect 9.8
38 neuroaxonal dystrophy 9.8
39 polyhydramnios 9.8
40 cleft lip 9.8
41 alcohol dependence 9.8
42 deafness, congenital, with onychodystrophy, autosomal dominant 9.8
43 multiple sclerosis 9.8
44 coffin-siris syndrome 1 9.8
45 migraine with or without aura 1 9.8
46 parkinson disease, late-onset 9.8
47 polykaryocytosis inducer 9.8
48 rheumatoid arthritis 9.8
49 schizophrenia 9.8
50 scleroderma, familial progressive 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:

58 31 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
3 gingival overgrowth 58 31 very rare (1%) Very frequent (99-80%) HP:0000212
4 wide nasal bridge 58 31 very rare (1%) Very frequent (99-80%) HP:0000431
5 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
6 long philtrum 58 31 very rare (1%) Very frequent (99-80%) HP:0000343
7 toenail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100797
8 absent fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001817
9 wide nasal base 58 31 hallmark (90%) Very frequent (99-80%) HP:0012810
10 coarse facial features 58 31 very rare (1%) Frequent (79-30%) HP:0000280
11 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
12 thick lower lip vermilion 58 31 very rare (1%) Frequent (79-30%) HP:0000179
13 low-set ears 58 31 very rare (1%) Frequent (79-30%) HP:0000369
14 thickened nuchal skin fold 58 31 very rare (1%) Frequent (79-30%) HP:0000474
15 epicanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000286
16 open mouth 58 31 very rare (1%) Frequent (79-30%) HP:0000194
17 downturned corners of mouth 58 31 very rare (1%) Frequent (79-30%) HP:0002714
18 clinodactyly of the 5th finger 58 31 very rare (1%) Frequent (79-30%) HP:0004209
19 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
20 thin upper lip vermilion 58 31 very rare (1%) Frequent (79-30%) HP:0000219
21 low anterior hairline 58 31 very rare (1%) Frequent (79-30%) HP:0000294
22 bulbous nose 58 31 very rare (1%) Frequent (79-30%) HP:0000414
23 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
24 short distal phalanx of finger 58 31 very rare (1%) 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 very rare (1%) 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 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
33 narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000189
34 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
35 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
36 optic atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0000648
37 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
38 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
39 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
40 cleft palate 58 31 very rare (1%) Occasional (29-5%) HP:0000175
41 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
42 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
43 dandy-walker malformation 58 31 occasional (7.5%) Very rare (<4-1%) HP:0001305
44 nephrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000121
45 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
46 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
47 triphalangeal thumb 58 31 very rare (1%) 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®:

57 (Updated 20-May-2021)
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 20-May-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.02 ATP6V1B2 CDH23 PCDH15 TBC1D24 UBE3B

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 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics Phase 4
3
Bupivacaine Approved, Investigational Phase 3 38396-39-3, 2180-92-9 2474
4
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
5 Anesthetics, Local Phase 3
6
Flurbiprofen Approved, Investigational Phase 2 5104-49-4 3394
7 Fibrinolytic Agents Phase 2
8 Pharmaceutical Solutions Phase 2
9 Antirheumatic Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Analgesics Phase 2
12 Cyclooxygenase Inhibitors Phase 2
13 Analgesics, Non-Narcotic Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2
15
Pyrimethamine Approved, Investigational, Vet_approved 58-14-0 4993
16
Amodiaquine Approved, Investigational 86-42-0 2165
17
Sulfadoxine Approved, Investigational 2447-57-6 17134
18
Permethrin Approved, Investigational 52645-53-1 40326
19
Calcium carbonate Approved, Investigational 471-34-1
20
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
21
Tramadol Approved, Investigational 27203-92-5 33741
22
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
23
Iron Approved 7439-89-6 23925 29936
24
Levoleucovorin Approved, Investigational 68538-85-2 149436
25
Zinc Approved, Investigational 7440-66-6 32051
26
Iodine Approved, Investigational 7553-56-2 807
27
Nitric Oxide Approved 10102-43-9 145068
28
Altretamine Approved 645-05-6 2123
29
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
30
Tocopherol Approved, Investigational 1406-66-2
31
Nicotinamide Approved, Investigational 98-92-0 936
32
Copper Approved, Investigational 7440-50-8 27099
33
Titanium dioxide Approved 13463-67-7
34
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
35
Haloperidol Approved 52-86-8 3559
36
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
37
Hydromorphone Approved, Illicit 466-99-9 5284570
38
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
39
Caffeine Approved 58-08-2 2519
40
Hydrocortisone Approved, Vet_approved 50-23-7 5754
41
Hydrocortisone acetate Approved, Vet_approved 50-03-3
42
Acetylcholine Approved, Investigational 51-84-3 187
43
tannic acid Approved 1401-55-4
44
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
45
Ethanol Approved 64-17-5 702
46
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
47
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
48
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
49
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
50
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 Estimation of MMP-8 Levels in GCF and Serum and Its Correlation With Wound Healing and Clinical Outcomes After Coronally Advanced Flap and Subepithelial Connective Tissue Graft for Root Coverage in Recession Defects: A CLINICO-BIOCHEMICAL STUDY Suspended NCT02863744 Phase 4
2 Efficacy and Safety of Ketamine Added to Local Anesthetic in Modified Pectoral Block for Management of Postoperative Pain in Patients Undergoing Modified Radical Mastectomy Completed NCT02620371 Phase 3
3 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
4 A Pilot Phase II Study of Hyperbaric Oxygen for Persistent Post-concussive Symptoms After Mild Traumatic Brain Injury (HOPPS) Completed NCT01306968 Phase 2 hyperbaric oxygen
5 Hyperbaric Oxygen Therapy in Chronic Stable Brain Injury Completed NCT00830453 Phase 2
6 Safety of Intravenous Thrombolytics in Stroke on Awakening Completed NCT01643902 Phase 2 tPA
7 Fresh to You: Multilevel Approaches in Low Income Housing to Increase F&V Intake Completed NCT02669472 Phase 2
8 Subglottic Instillation of Flurbiprofen to Prevent Laryngeal Inflammation Resulting From Endotracheal Intubation: Prospective Pilot Study, Randomized, Double Blind, Placebo Controlled. Not yet recruiting NCT04708964 Phase 2 Flurbiprofen;saline solution
9 Optimal Delivery of Seasonal Malaria Chemoprevention and Its Effects on the Acquisition of Malaria Immunity Unknown status NCT02646410
10 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) Unknown status NCT03503812
11 Refinement and Evaluation of a Multilevel Intervention for Preventing Men's Use of Violence in Urban South Africa (Sonke CHANGE Trial) Unknown status NCT02823288
12 Innovative Game-Based Rehabilitation Platform for Children With Motor and Cognitive Impairments Due to Neuro-developmental Disorders and Acquired Brain Injuries Unknown status NCT02728375
13 The Study of Brain GABA and Brain Functional Modulatory Mechanism of Chronic Insomnia Disorder Using Acupuncture at "Combined Magical-door" Acupoints Unknown status NCT03237338
14 Testing the Efficacy of Opening Doors: A Career Guidance Intervention for Individuals With Psychiatric Disabilities Unknown status NCT03409991
15 Emergency Department Physician Activation of the Catheterization Laboratory and Immediate Transfer to an Immediately Available Catheterization Lab Reduce Door-to-Balloon Time in ST-Elevation Myocardial Infarction Unknown status NCT00800163
16 Randomised Evaluation of Brief Psychological Intervention for Parents of Adolescents: The Open Door Approach to Parenting Teenagers (APT), in London, England Unknown status NCT03916172
17 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®)
18 A Before-and-after Study to Evaluate Effects of Low-cost Interventions for Promoting Healthy Lifestyle Modifications Unknown status NCT01574040
19 Voluntary Drug Poisoning by Psychoactive Molecules: Identify Cognitive Markers Predictive of a Preserved Memory of Care in Psychiatric Emergencies Unknown status NCT03481192
20 Effects of Motor Imagery and Action Observation Training on Gait and Brain Activation Pattern of Individuals With Parkinson's Disease: Randomized Controlled Clinical Trial Unknown status NCT03439800
21 Randomized, Multicenter, Before-after Study for a Large-scale Evaluation of the Effectiveness of a Multitasking Intervention to Improve the Communication Towards Families of Critically Ill Patients Unknown status NCT03438175
22 Main Researcher for the Effects of Functional Action-observation Training on Gait Ability Unknown status NCT03184675
23 Integrated Computational modelIing of Right Heart Mechanics and Blood Flow Dynamics in Congenital Heart Disease ("INITIATE") Unknown status NCT03217240
24 Home Evaluation of Visual Exit Barriers in Dementia-related Wandering Completed NCT00997425
25 Monitoring and Evaluation of Micronutrients (Sprinkles) Project Completed NCT00659061
26 System for Quantifying the Functional Strength of the Grip and Pinch Movements Completed NCT04174729
27 Comparing Door-to-door Versus Community Gathering in Providing HIV Counseling and Testing Within an Integrated Primary Health Care Package: a Cluster Randomized Trial in Rural Lesotho Completed NCT01459120
28 Health Effects of Indoor Air Filtration in Healthy Chinese Adults: An Intervention Study Completed NCT02712333
29 Improving Community Health Worker Performance by Using a Personalised Feedback Dashboard for Supervision: a Randomised Controlled Trial Completed NCT03684551
30 Assessment of Family Planning and Immunization Service Integration in Malawi Completed NCT03404284
31 A Community-based Cluster Randomized Controlled Trial to Evaluate the Effectiveness of Different Bundles of Nutrition-specific Interventions in Improving Mean Length-for-age Z Score Among Children at 24 Months of Age in Rural Bangladesh Completed NCT02768181
32 A Comparison of CO2 Absorption During Gynecologic Laparoscopy Using the AirSeal® Valveless Trocar System Versus Standard Insufflation Trocars at Intra-abdominal Pressures of 10 mmHg and 15 mmHg - a Randomized Controlled Trial Completed NCT02654808
33 Prevention of Healthcare Associated Infections in Bone Marrow Transplant Patients Completed NCT02463214
34 Sleep/Wake Protocol Implementation to Improve Sleep Quality and Reduce Delirium in a Surgical and Cardiovascular Intensive Care Unit Completed NCT03313115
35 Community-based Distribution of Oral HIV Self-testing Kits-A Pilot Intervention and Rapid Impact Evaluation Completed NCT02994329
36 Peripheral for Quantify Strength of Children Functional During the Pinch Movement Completed NCT02965352
37 Treatment for Auditory Hyper-Reactivity Behavior in Children With Autism Using Exposure and Response Prevention Principles Completed NCT03206996
38 A Randomized Trial of Nudges To Enhance Enrollment in Critical Care Research Completed NCT03284359
39 Strengthening the Midwife Service Scheme With Community Focused Interventions: Evidence From a Randomized Controlled Field Trial in Nigeria Completed NCT01487707
40 Getting Older Adults OUT-of-doors (GO-OUT): A Randomized Controlled Trial of a Community-based Outdoor Walking Program Completed NCT02339467
41 A Trial of "Opening Doors to Recovery" for Persons With Serious Mental Illnesses Completed NCT04612777
42 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
43 The Influence of Acute Myocardial Infarction Checklist on the Door-to-Balloon Time in Patients Suffering From Acute ST-Elevation Myocardial Infarction Completed NCT00632788
44 Randomized Trial of Aggressive Process of Care Quality Improvement Intervention to Decrease Door to Balloon Time in Primary PCI for Acute Myocardial Infarction Completed NCT01625104
45 Are Rigid Cervical Collars Necessary for Patients Undergoing Open-door Laminoplasty and Titanium Arch Plates for Cervical Myelopathy? - A Randomized Clinical Trial Completed NCT03400644
46 Better Quality With Less Cost? A Single Hospital Experience on Reducing Door-to-balloon Time in ST-elevation Myocardial Infarction Completed NCT01545206
47 The Relationship Between Off-hours Admissions for Primary Percutaneous Coronary Intervention, Door-to-balloon Time and Mortality for Patients With ST-elevation Myocardial Infarction in England: a Registry-based Prospective National Cohort Study Completed NCT02374190
48 Improving In-hospital Stroke Service Utilisation (MISSION) in China: A Cluster Randomised Trial of Interventions to Shorten Door to Needle Times Completed NCT03317639
49 Door To Unloading With IMPELLA CP System in Acute Myocardial Infarction to Reduce Infarct Size (DTU): A Prospective Feasibility Study Completed NCT03000270
50 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Completed NCT03226366

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 TBC1D24

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

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

40
Eye, Tongue, Heart, Brain, Cortex, Bone Marrow, Lung

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

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

(show all 50)
# Title Authors PMID Year
1
The genetic basis of DOORS syndrome: an exome-sequencing study. 61 57 6
24291220 2014
2
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 61 6
25769375 2015
3
TBC1D24-Related Disorders 61 6
25719194 2015
4
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 6 61
25169651 2014
5
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
6
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
7
DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection. 57
18438887 2008
8
DOOR syndrome: clinical report, literature review and discussion of natural history. 57
17994565 2007
9
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. 57
12457410 2002
10
DOOR syndrome: report of three additional cases. 57
12002145 2002
11
Further delineation of the DOOR syndrome. 57
11045579 2000
12
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. 57
8256819 1993
13
Eronen syndrome identical with DOOR syndrome? 57
8500264 1993
14
Digito-reno-cerebral syndrome: confirmation of Eronen syndrome. 57
1424243 1992
15
The cerebro-reno-digital syndromes: a new community. 57
2015691 1991
16
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. 57
3812564 1987
17
New syndrome: a digito-reno-cerebral syndrome. 57
4050858 1985
18
Additional case report of the DOOR syndrome. 57
6507487 1984
19
Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. 57
6707793 1984
20
Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. 57
7180877 1982
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
DOORS syndrome and a recurrent truncating ATP6V1B2 variant. 61
32873933 2021
26
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant. 61
32934366 2021
27
PIGF deficiency causes a phenotype overlapping with DOORS syndrome. 61
33386993 2021
28
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. 61
32987832 2020
29
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature. 61
32969800 2020
30
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation. 61
33281559 2020
31
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene. 61
32849222 2020
32
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons. 61
30858606 2019
33
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 61
31226716 2019
34
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 61
31256876 2019
35
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. 61
30245510 2019
36
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. 61
30335140 2019
37
[Clinical phenotypes of TBC1D24 gene related epilepsy]. 61
30180405 2018
38
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome. 61
29176366 2018
39
Unresolved questions regarding human hereditary deafness. 61
27259978 2017
40
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. 61
28003643 2017
41
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
42
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. 61
27669036 2016
43
Absence of Nails, Deaf-mutism, Seizures, and Intellectual Disability: A Case Report. 61
26023614 2015
44
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. 61
25557349 2015
45
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
46
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 61
24729547 2014
47
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 61
24729539 2014
48
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 54
17343268 2007
49
[Onychodystrophy, sensory and mental deficits, neonatal seizures ("DOORS syndrome")]. 61
2783009 1989
50
[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 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Pathogenic 91395 rs398122965 GRCh37: 16:2546873-2546873
GRCh38: 16:2496872-2496872
2 TBC1D24 NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) SNV Pathogenic 91396 rs398122966 GRCh37: 16:2546267-2546267
GRCh38: 16:2496266-2496266
3 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs) Deletion Pathogenic 91398 rs398122967 GRCh37: 16:2548263-2548263
GRCh38: 16:2498262-2498262
4 TBC1D24 NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) SNV Pathogenic 183152 rs760474458 GRCh37: 16:2546268-2546268
GRCh38: 16:2496267-2496267
5 TBC1D24 NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) SNV Pathogenic 183153 rs797044547 GRCh37: 16:2546462-2546462
GRCh38: 16:2496461-2496461
6 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) SNV Pathogenic 183154 rs747821285 GRCh37: 16:2546477-2546477
GRCh38: 16:2496476-2496476
7 TBC1D24 NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) SNV Pathogenic 183155 rs797044548 GRCh37: 16:2548254-2548254
GRCh38: 16:2498253-2498253
8 TBC1D24 NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) Duplication Pathogenic 183156 rs797044549 GRCh37: 16:2550425-2550426
GRCh38: 16:2500424-2500425
9 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) SNV Pathogenic 207505 rs747538224 GRCh37: 16:2546994-2546994
GRCh38: 16:2496993-2496993
10 TBC1D24 NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) SNV Pathogenic 91397 rs201257588 GRCh37: 16:2546207-2546207
GRCh38: 16:2496206-2496206
11 TBC1D24 NM_001199107.2(TBC1D24):c.1206+5G>A SNV Pathogenic 91399 rs398122968 GRCh37: 16:2549426-2549426
GRCh38: 16:2499425-2499425
12 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
13 TBC1D24 NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) SNV Likely pathogenic 982832 GRCh37: 16:2546682-2546682
GRCh38: 16:2496681-2496681
14 TBC1D24 NM_001199107.2(TBC1D24):c.965+2T>C SNV Likely pathogenic 1029242 GRCh37: 16:2547116-2547116
GRCh38: 16:2497115-2497115
15 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
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.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 GRCh37: 16:2547020-2547020
GRCh38: 16:2497019-2497019
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.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 GRCh37: 16:2546883-2546883
GRCh38: 16:2496882-2496882

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

72
# 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 9.26 PCDH15 CDH23
2 sensory perception of light stimulus GO:0050953 9.16 PCDH15 CDH23
3 equilibrioception GO:0050957 8.96 PCDH15 CDH23
4 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....