Aliases & Classifications for Door Syndrome

MalaCards integrated aliases for Door Syndrome:

Name: Door Syndrome 54 24 71 52
Digitorenocerebral Syndrome 71 29 69
Brachydactyly Due to Absence of Distal Phalanges 24 71
Eronen Syndrome 24 71
Drc Syndrome 24 71
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 71
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and Seizures Syndrome 24
Digitorenocerbral Syndrome 24
Doors 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
door syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Door Syndrome

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Door Syndrome, also known as digitorenocerebral syndrome, is related to deafness onychodystrophy osteodystrophy and mental retardation syndrome and autosomal dominant deafness-onychodystrophy syndrome, and has symptoms including brachydactyly, optic atrophy and bulbous nose. An important gene associated with Door Syndrome is TBC1D24 (TBC1 Domain Family Member 24). The drugs Losartan and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skin.

OMIM : 54
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)

Wikipedia : 72 This condition is inherited in an autosomal recessive... more...

Related Diseases for Door Syndrome

Diseases related to Door Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness onychodystrophy osteodystrophy and mental retardation syndrome 11.7
2 autosomal dominant deafness-onychodystrophy syndrome 10.9
3 deafness, congenital, with onychodystrophy, autosomal dominant 10.8
4 fryns syndrome 9.6
5 heart disease 9.6
6 status epilepticus 9.6
7 miller syndrome 8.9 BMP4 OGDH TBC1D24

Graphical network of the top 20 diseases related to Door Syndrome:



Diseases related to Door Syndrome

Symptoms & Phenotypes for Door Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Head And Neck- Face:
coarse facies
long philtrum

Neurologic- Peripheral Nervous System:
hyporeflexia
peripheral polyneuropathy

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

Skeletal- Hands:
triphalangeal thumbs
small or absent distal phalanges

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

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

Neurologic- Central Nervous System:
hypotonia
mental retardation
dilated ventricles
cerebral atrophy
seizures
more
Head And Neck- Eyes:
optic atrophy
high myopia
cataracts
blindness

Head And Neck- Head:
microcephaly
narrow bifrontal diameter

Head And Neck- Nose:
anteverted nares
broad nasal bridge
bulbous nasal tip
large nose

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

Human phenotypes related to Door Syndrome:

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

UMLS symptoms related to Door Syndrome:


seizures

Drugs & Therapeutics for Door Syndrome

Drugs for Door Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Losartan Approved Phase 3 114798-26-4 3961
2
Caffeine Approved, Nutraceutical Phase 3 58-08-2 2519
3
Angiotensin II Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
4 Adrenergic Agents Phase 3
5 Adrenergic Antagonists Phase 3
6 Adrenergic beta-Antagonists Phase 3
7 Angiotensin II Type 1 Receptor Blockers Phase 3
8 Angiotensin Receptor Antagonists Phase 3
9 Angiotensinogen Phase 3
10 Anti-Arrhythmia Agents Phase 3
11 Antihypertensive Agents Phase 3
12 Neurotransmitter Agents Phase 3
13
Pioglitazone Approved, Investigational 111025-46-8 4829
14
Dopamine Approved 51-61-6, 62-31-7 681
15
Methamphetamine Approved, Illicit 537-46-2 10836
16
Haloperidol Approved 52-86-8 3559
17
Azithromycin Approved 83905-01-5 55185 53477736 447043
18
Clarithromycin Approved 81103-11-9 84029
19
Erythromycin Approved, Vet_approved 114-07-8 12560
20
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
21
Ethinyl Estradiol Approved 57-63-6 5991
22
Fluconazole Approved 86386-73-4 3365
23
Guaifenesin Approved, Vet_approved 93-14-1 3516
24
Itraconazole Approved, Investigational 84625-61-6 55283
25
Ketoconazole Approved, Investigational 65277-42-1 47576 3823
26
Levofloxacin Approved, Investigational 100986-85-4 149096
27
Methadone Approved 76-99-3 4095
28
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
29
Moxifloxacin Approved, Investigational 354812-41-2, 151096-09-2 152946
30
Norgestimate Approved 35189-28-7 6540478
31
Ofloxacin Approved 82419-36-1 4583
32
Sulfamethoxazole Approved 723-46-6 5329
33
Sunitinib Approved, Investigational 341031-54-7, 557795-19-4 5329102
34
Tacrolimus Approved, Investigational 104987-11-3 445643 439492
35
Trimethoprim Approved, Vet_approved 738-70-5 5578
36
Voriconazole Approved, Investigational 137234-62-9 71616
37
Benzocaine Approved 1994-09-7, 94-09-7 2337
38 tannic acid Approved, Nutraceutical
39 Hypoglycemic Agents
40 Autonomic Agents
41 Central Nervous System Stimulants
42 Dopamine Agents
43 Dopamine Uptake Inhibitors
44 Neurotransmitter Uptake Inhibitors
45 Peripheral Nervous System Agents
46 Antiemetics
47 Antipsychotic Agents
48 Central Nervous System Depressants
49 decanoic acid
50 Dopamine Antagonists

Interventional clinical trials:

(show all 16)

id Name Status NCT ID Phase Drugs
1 Community-based Distribution of Oral HIV Self-testing Kits Not yet recruiting NCT02994329 Phase 4
2 Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers Unknown status NCT00782327 Phase 3 Losartan;Placebo
3 AngelMed for Early Recognition and Treatment of STEMI Active, not recruiting NCT00781118 Phase 3
4 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
5 Hyperbaric Oxygen Therapy (HBO2) for Persistent Post-concussive Symptoms After Mild Traumatic Brain Injury (mTBI) Completed NCT01306968 Phase 2 hyperbaric oxygen
6 Randomized Trial of Prehospital Tropin Levels in Acute Coronary Syndrome (ACS) Unknown status NCT00764205
7 Prehospital Evaluation and Economic Analysis of Different Coronary Syndrome Treatment Strategies - PREDICT Unknown status NCT00747656
8 An Epidemiological Study of Acute Coronary Syndromes in The Greek Population. The TARGET Study Completed NCT01061086
9 Cellular Dynamics of Subcutaneous Fat Distribution in Obese Women Completed NCT01748994 Pioglitazone;Placebo
10 Moisture Chamber Glasses for Dry Eye in Asian Population Completed NCT01388426
11 QT-prolongation in Psychiatric Hospitals Completed NCT02043925 drugs linked with QT-prolongation
12 Drug Interactions With Risk of QT-prolongation in a General Hospital Completed NCT02043912 Haloperidol
13 Risk of QT-prolongation and Torsade de Pointes in Patients Treated With Acute Medication in a University Hospital Completed NCT02068170 Haloperidol, azi/clari/erythromycin, levo/moxifloxacin, co-trimoxazole, vori/keto/flu/itraconazole, methadone, tacrolimus, sunitinib
14 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Recruiting NCT03226366
15 Validation of Simple Acute Coronary Syndrome (SACS) Score Enrolling by invitation NCT02358148
16 Coronary Anatomy Study and Times Since the Onset of Acute Myocardial Infarction Symptoms in Women Until the Opening of the Artery (TAPAC Study) Not yet recruiting NCT03152240

Search NIH Clinical Center for Door Syndrome

Genetic Tests for Door Syndrome

Genetic tests related to Door Syndrome:

id Genetic test Affiliating Genes
1 Digitorenocerebral Syndrome 29
2 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation and Seizures Syndrome 24 TBC1D24

Anatomical Context for Door Syndrome

MalaCards organs/tissues related to Door Syndrome:

39
Heart, Testes, Skin, Brain, Eye, Cortex

Publications for Door Syndrome

Articles related to Door Syndrome:

(show all 22)
id Title Authors Year
1
The Alberta Mental Health Act 2010 and Revolving Door Syndrome: Control, Care, and Identity in Making up People. ( 27527994 )
2016
2
The genetic basis of DOORS syndrome: an exome-sequencing study. ( 24291220 )
2014
3
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
2014
4
Parkinsonism may be part of the symptom complex of DOOR syndrome. ( 24486243 )
2014
5
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. ( 24357154 )
2013
6
DOOR syndrome. ( 21743113 )
2011
7
Anaesthetic management of an adult patient with DOOR syndrome: a case report. ( 19830001 )
2009
8
DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging. ( 18440741 )
2009
9
A new case of DOOR syndrome. ( 18263975 )
2008
10
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. ( 17343268 )
2007
11
DOOR syndrome: clinical report, literature review and discussion of natural history. ( 17994565 )
2007
12
The revolving door syndrome: the Chinese COPD patients' perspectives. ( 17727594 )
2007
13
DOOR syndrome: report of three additional cases. ( 12002145 )
2002
14
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. ( 12457410 )
2002
15
Further delineation of the DOOR syndrome. ( 11045579 )
2000
16
Reversing the revolving door syndrome. How to find and keep quality care staff. ( 10154328 )
1996
17
DOOR syndrome: additional case and literature review. ( 8205321 )
1994
18
Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. ( 7808978 )
1994
19
Eronen syndrome identical with DOOR syndrome? ( 8500264 )
1993
20
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. ( 8256819 )
1993
21
Impact of involuntary outpatient commitment on the revolving-door syndrome in North Carolina. ( 2210692 )
1990
22
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. ( 3812564 )
1987

Variations for Door Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Door Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Gln20Glu VAR_070912 rs201257588
2 TBC1D24 p.Arg40Cys VAR_070913 rs398122966
3 TBC1D24 p.Gly110Ser VAR_070914 rs747821285
4 TBC1D24 p.Arg242Cys VAR_070915 rs398122965
5 TBC1D24 p.Leu333Phe VAR_070916 rs797044548

ClinVar genetic disease variations for Door Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
2 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh37 Chromosome 16, 2546267: 2546267
3 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh37 Chromosome 16, 2546207: 2546207
4 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
5 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh37 Chromosome 16, 2549426: 2549426
6 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh38 Chromosome 16, 2496267: 2496267
7 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh38 Chromosome 16, 2496461: 2496461
8 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Pathogenic/Likely pathogenic rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
9 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh38 Chromosome 16, 2498253: 2498253
10 TBC1D24 NM_001199107.1(TBC1D24): c.1460dupA (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh38 Chromosome 16, 2500425: 2500425

Expression for Door Syndrome

Search GEO for disease gene expression data for Door Syndrome.

Pathways for Door Syndrome

GO Terms for Door Syndrome

Sources for Door Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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