MCID: DFN344
MIFTS: 37

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

MalaCards integrated aliases for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome:

Name: Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 57 75
Digitorenocerebral Syndrome 57 53 25 75 29 6 73
Door Syndrome 57 76 53 25 75 55
Eronen Syndrome 57 25 75
Doors Syndrome 57 53 25
Drc Syndrome 57 25 75
Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome 53 25
Autosomal Recessive Deafness-Onychodystrophy Syndrome 53 25
Brachydactyly Due to Absence of Distal Phalanges 57 75
Doors 57 75
Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome 25
Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 25
Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome 53
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome 40

Characteristics:

OMIM:

57
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
deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 53 Deafness onychodystrophy osteodystrophy and mental retardation (DOOR) syndrome is a rare genetic disorder that is usually recognized shortly after birth. The term DOOR is an acronym with each letter representing a common feature in affected individuals: (D)eafness due to a defect of the inner ear or auditory nerve; (O)nychodystrophy or malformation of the nails; (O)steodystrophy, meaning malformation of certain bones; and mild to profound mental (R)etardation, which is now referred to as intellectual disability. In some cases, individuals may also experience seizures. This condition is inherited in an autosomal recessive fashion; the exact genetic cause is unknown.

MalaCards based summary : Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome, also known as digitorenocerebral syndrome, is related to obsessive-compulsive disorder and autosomal dominant deafness-onychodystrophy syndrome, and has symptoms including seizures An important gene associated with Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include bone, heart and skin, and related phenotypes are renal agenesis and high palate

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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 DOOR (deafness, onychdystrophy, 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 66)
# Related Disease Score Top Affiliating Genes
1 obsessive-compulsive disorder 11.0
2 autosomal dominant deafness-onychodystrophy syndrome 11.0
3 deafness, congenital, with onychodystrophy, autosomal dominant 10.9
4 dengue disease 10.9
5 chikungunya 10.9
6 zika fever 10.9
7 cervicitis 10.1
8 essential tremor 10.0
9 tremor 10.0
10 myocardial infarction 9.9
11 heart disease 9.9
12 dementia 9.9
13 ischemic heart disease 9.9
14 spinal stenosis 9.9
15 radiculopathy 9.9
16 cerebrovascular disease 9.9
17 cardiogenic shock 9.9
18 frontotemporal dementia 9.8
19 sleeping sickness 9.8
20 bell's palsy 9.8
21 frontotemporal dementia with parkinsonism-17 9.8
22 headache 9.8
23 breast cancer 9.6
24 fibrodysplasia ossificans progressiva 9.6
25 coffin-siris syndrome 1 9.6
26 down syndrome 9.6
27 williams-beuren syndrome 9.6
28 celiac disease 1 9.6
29 fryns syndrome 9.6
30 intracranial hypertension, idiopathic 9.6
31 adrenoleukodystrophy 9.6
32 anorexia nervosa 9.6
33 choanal atresia, posterior 9.6
34 microvascular complications of diabetes 5 9.6
35 acute myocardial infarction 9.6
36 brain injury 9.6
37 burns 9.6
38 craniosynostosis 9.6
39 diabetes mellitus 9.6
40 diabetic neuropathy 9.6
41 malignant glioma 9.6
42 neutropenia 9.6
43 traumatic brain injury 9.6
44 body dysmorphic disorder 9.6
45 cytomegalovirus retinitis 9.6
46 opioid abuse 9.6
47 gender identity disorder 9.6
48 pathological gambling 9.6
49 ehlers-danlos syndrome 9.6
50 patent foramen ovale 9.6

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,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
deafness, sensorineural, profound

Head And Neck Head:
microcephaly
narrow bifrontal diameter

Head And Neck Eyes:
optic atrophy
blindness
cataracts
high myopia

Neurologic Peripheral Nervous System:
hyporeflexia
peripheral polyneuropathy

Skeletal Hands:
triphalangeal thumbs
small or absent distal phalanges

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

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

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation
dandy-walker malformation (rare)
more
Head And Neck Nose:
anteverted nares
broad nasal bridge
bulbous nasal tip
large nose

Head And Neck Face:
long philtrum
coarse facies

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

Cardiovascular Heart:
congenital heart defects (less common)

Skeletal Feet:
small or absent distal phalanges

Laboratory Abnormalities:
increased serum and urinary 2-oxoglutarate


Clinical features from OMIM:

220500

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

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 renal agenesis 32 occasional (7.5%) HP:0000104
2 high palate 32 HP:0000218
3 everted lower lip vermilion 32 HP:0000232
4 microcephaly 32 HP:0000252
5 coarse facial features 32 HP:0000280
6 long philtrum 32 HP:0000343
7 low-set ears 32 HP:0000369
8 sensorineural hearing impairment 32 HP:0000407
9 bulbous nose 32 HP:0000414
10 wide nasal bridge 32 HP:0000431
11 prominent nose 32 HP:0000448
12 anteverted nares 32 HP:0000463
13 cataract 32 HP:0000518
14 blindness 32 HP:0000618
15 optic atrophy 32 HP:0000648
16 cystic renal dysplasia 32 occasional (7.5%) HP:0000800
17 abnormality of the skin 32 HP:0000951
18 brachydactyly 32 HP:0001156
19 triphalangeal thumb 32 HP:0001199
20 intellectual disability 32 HP:0001249
21 seizures 32 HP:0001250
22 muscular hypotonia 32 HP:0001252
23 hyporeflexia 32 HP:0001265
24 generalized hypotonia 32 HP:0001290
25 dandy-walker malformation 32 occasional (7.5%) HP:0001305
26 abnormal heart morphology 32 occasional (7.5%) HP:0001627
27 anonychia 32 HP:0001798
28 cerebral atrophy 32 HP:0002059
29 nail dysplasia 32 HP:0002164
30 downturned corners of mouth 32 HP:0002714
31 nail dystrophy 32 HP:0008404
32 bilateral sensorineural hearing impairment 32 HP:0008619
33 short distal phalanx of finger 32 HP:0009882
34 high myopia 32 HP:0011003
35 profound sensorineural hearing impairment 32 HP:0011476

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


seizures

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

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

Genetic Tests for Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

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

# Genetic test Affiliating Genes
1 Digitorenocerebral Syndrome 29 TBC1D24

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

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

41
Bone, Heart, Skin, Cortex

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

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

(show all 22)
# 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
Parkinsonism may be part of the symptom complex of DOOR syndrome. ( 24486243 )
2014
3
The genetic basis of DOORS syndrome: an exome-sequencing study. ( 24291220 )
2014
4
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ( 25169651 )
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
DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging. ( 18440741 )
2009
8
Anaesthetic management of an adult patient with DOOR syndrome: a case report. ( 19830001 )
2009
9
A new case of DOOR syndrome. ( 18263975 )
2008
10
DOOR syndrome: clinical report, literature review and discussion of natural history. ( 17994565 )
2007
11
The revolving door syndrome: the Chinese COPD patients' perspectives. ( 17727594 )
2007
12
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. ( 17343268 )
2007
13
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex. ( 12457410 )
2002
14
DOOR syndrome: report of three additional cases. ( 12002145 )
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
Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. ( 7808978 )
1994
18
DOOR syndrome: additional case and literature review. ( 8205321 )
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 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation,...

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

75
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Gln20Glu VAR_070912 rs201257588
2 TBC1D24 p.Arg40Cys VAR_070913 rs398122966
3 TBC1D24 p.Arg242Cys VAR_070915 rs398122965
4 TBC1D24 p.Leu333Phe VAR_070916 rs797044548

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

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh37 Chromosome 16, 2546873: 2546873
2 TBC1D24 NM_001199107.1(TBC1D24): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398122965 GRCh38 Chromosome 16, 2496872: 2496872
3 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh37 Chromosome 16, 2546267: 2546267
4 TBC1D24 NM_001199107.1(TBC1D24): c.118C> T (p.Arg40Cys) single nucleotide variant Pathogenic rs398122966 GRCh38 Chromosome 16, 2496266: 2496266
5 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh37 Chromosome 16, 2546207: 2546207
6 TBC1D24 NM_001199107.1(TBC1D24): c.58C> G (p.Gln20Glu) single nucleotide variant Pathogenic rs201257588 GRCh38 Chromosome 16, 2496206: 2496206
7 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh37 Chromosome 16, 2548263: 2548263
8 TBC1D24 NM_001199107.1(TBC1D24): c.1008delT (p.His336Glnfs) deletion Pathogenic rs398122967 GRCh38 Chromosome 16, 2498262: 2498262
9 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh37 Chromosome 16, 2549426: 2549426
10 TBC1D24 NM_001199107.1(TBC1D24): c.1206+5G> A single nucleotide variant Pathogenic rs398122968 GRCh38 Chromosome 16, 2499425: 2499425
11 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh37 Chromosome 16, 2546462: 2546462
12 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh38 Chromosome 16, 2496267: 2496267
13 TBC1D24 NM_001199107.1(TBC1D24): c.119G> T (p.Arg40Leu) single nucleotide variant Pathogenic rs760474458 GRCh37 Chromosome 16, 2546268: 2546268
14 TBC1D24 NM_001199107.1(TBC1D24): c.313T> C (p.Cys105Arg) single nucleotide variant Pathogenic rs797044547 GRCh38 Chromosome 16, 2496461: 2496461
15 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh38 Chromosome 16, 2496476: 2496476
16 TBC1D24 NM_001199107.1(TBC1D24): c.328G> A (p.Gly110Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs747821285 GRCh37 Chromosome 16, 2546477: 2546477
17 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh38 Chromosome 16, 2498253: 2498253
18 TBC1D24 NM_001199107.1(TBC1D24): c.999G> T (p.Leu333Phe) single nucleotide variant Pathogenic rs797044548 GRCh37 Chromosome 16, 2548254: 2548254
19 TBC1D24 NM_001199107.1(TBC1D24): c.1460dupA (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh38 Chromosome 16, 2500425: 2500425
20 TBC1D24 NM_001199107.1(TBC1D24): c.1460dupA (p.His487Glnfs) duplication Pathogenic rs797044549 GRCh37 Chromosome 16, 2550426: 2550426
21 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh38 Chromosome 16, 2499864: 2499864
22 TBC1D24 NM_020705.2(TBC1D24): c.1218G> C (p.Trp406Cys) single nucleotide variant no interpretation for the single variant rs863224931 GRCh37 Chromosome 16, 2549865: 2549865
23 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh37 Chromosome 16, 2549917: 2549917
24 TBC1D24 NM_020705.2(TBC1D24): c.1270T> C (p.Cys424Arg) single nucleotide variant no interpretation for the single variant rs863224932 GRCh38 Chromosome 16, 2499916: 2499916

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,...

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

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

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