MTS
MCID: MHR001
MIFTS: 49

Mohr-Tranebjaerg Syndrome (MTS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mohr-Tranebjaerg Syndrome

MalaCards integrated aliases for Mohr-Tranebjaerg Syndrome:

Name: Mohr-Tranebjaerg Syndrome 57 12 25 20 58 73 36 13 54 44 71 74 43
Deafness-Dystonia-Optic Neuronopathy Syndrome 12 25 20 43 58 15
Jensen Syndrome 57 12 43 73 36 71
Deafness Dystonia Syndrome 12 20 29 6
Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency 57 20 43
Opticoacoustic Nerve Atrophy with Dementia 57 43 73
Deafness-Dystonia-Optic Atrophy Syndrome 57 20 43
Dds 57 20 73
Mts 57 20 73
Dystonia-Deafness Syndrome 57 73
Ddon Syndrome 20 58
Ddp 57 20
Deafness - Dystonia - Optic Neuronopathy Syndrome 20
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome 58
Deafness-Dystonia-Optic Neuronopathy Syndrome 20
Deafness-Dystonia-Optic Atrophy Syndrome; Ddp 57
Deafness Dystonia Optic Neuronopathy Syndrome 12
Deafness Dystonia Optic Atrophy Syndrome 12
X-Linked Progressive Deafness Type 1 73
Dystonia-Deafness Syndrome; Dds 57
Dystonia Deafness Syndrome 12
Syndrome, Mohr-Tranebjaerg 39
Dfn-1 73
Ddon 25

Characteristics:

Orphanet epidemiological data:

58
mohr-tranebjaerg syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
onset in childhood
deafness is presenting symptom

Inheritance:
x-linked recessive


HPO:

31
mohr-tranebjaerg syndrome:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mohr-Tranebjaerg Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52368DefinitionAn X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.EpidemiologyMohr-Tranebjaerg syndrome (MTS) prevalence is unknown. More than 90 cases (37 families) are known, but not all cases have been reported in the literature.Clinical descriptionThe onset of rapidly progressive prelingual or postlingual sensorineural hearing loss, the only typical symptom, occurs in early childhood (18 months). The audiological phenotype is characterized by auditory neuropathy, characterized by preserved OAE (oto- acoustic emissions,) abnormal ABR (Auditory brain stem response), very poor speech discrimination, worsening in noisy environment and questionable benefit of treatment with cochlear implants (very few cases reported). Neuropsychologic manifestations, such as personality changes, paranoia, and mild intellectual deficit may emerge at the same time. A slowly progressive movement disorder, appearing as gegenhalten (diffuse resistance to limb movement), dystonia (mostly generalized or focal) or ataxia develops from early adolescence and is associated with brisk tendon reflexes, ankle clonus and extensor plantar responses. Patients experience reduced visual acuity, photophobia, acquired color vision defect and central scotomas starting from about 20 years of age and leading to legal blindness at around age 30 to 40. Slowly progressive dementia develops from the 4th decade onwards. In those with a contiguous gene deletion syndrome (CGS), recurrent infections may be present. Carrier females may be mildly affected with mild hearing impairment and focal dystonia. Despite the X linked recessive inheritance of the disease, there are a few cases where the proband was a female with dystonia.EtiologyMTS is caused by either a mutation in the TIMM8A gene (located to Xq22) or by a CGS at Xq22, resulting in a deafness-dystonia peptide 1 (DDP1) deficiency. If the CGS includes the Bruton agammaglobulinemia tyrosine kinase (BTK) gene, recurrent infections secondary to this X-linked agammaglobulinemia (XLA) are present.Diagnostic methodsA combination of hearing impairment and recurrent infections due to XLA in a male patient should elicit sequencing of the TIMM8A gene. Neuroimaging is employed to verify the presence of cerebral atrophy. In cases of suspected CGS; testing for XLA is possible.Differential diagnosisDifferential diagnosis includes MELAS syndrome; mitochondrial DNA depletion syndrome (encephalomyopathic form with methylmalonic aciduria); Arts syndrome; X-linked spinocerebellar ataxia type 3 and 4; McLeod neuroacanthocytosis syndrome; Usher syndrome type 1 and 2; Wolfram syndrome; autosomal recessive nonsyndromic sensorineural deafness type DFNB; Pendred syndrome; and other forms of dystonia or rarely Friedreich ataxia.Antenatal diagnosisPrenatal diagnosis may be proposed to affected couples or parents for further pregnancies.Genetic counselingMTS is transmitted in an X-linked recessive manner. Genetic counseling should be provided to affected families. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 25% risk of passing the mutation to offspring.Management and treatmentTreatment of MTS is symptomatic and evolves over time. Hearing aids are used with variable success. For mild hearing loss, a hearing device and cochlear implants are an option whereas hearing aids with visual clues are used in cases with more severe hearing loss. The management of the hearing impairment is challenged by the fact that it is an auditory neuropathy. Management of dystonia and ataxia includes treatment with GABA-agonists together with psycho-motor re-education and physical therapy. Other supportive measures include therapies for the deaf-blind, addressing progressive sensory deficits, such as tactile sign language. In those with secondary complications, intravenous immunoglobulin may prevent infections in XLA. Furthermore, live viral vaccines should be avoided in cases of XLA. In adulthood, regular neurological evaluation (assessment for dementia and/or psychiatric manifestations) should be maintained.PrognosisPrognosis is poor. The combination of deafness and blindness severely affects communication, while the ongoing movement disorder results in an increasingly unstable gait. Life expectancy is highly variable and can range from death in the teenage years (after a rapidly progressive dystonia) to those that live into their 60's.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mohr-Tranebjaerg Syndrome, also known as deafness-dystonia-optic neuronopathy syndrome, is related to 3-methylglutaconic aciduria, type iii and 3-methylglutaconic aciduria, and has symptoms including tremor, photophobia and dystonia. An important gene associated with Mohr-Tranebjaerg Syndrome is TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A), and among its related pathways/superpathways are Metabolism of proteins and Mitochondrial protein import. Affiliated tissues include eye, brain and bone, and related phenotypes are optic atrophy and abnormality of visual evoked potentials

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has material basis in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.

MedlinePlus Genetics : 43 Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.The first symptom of DDON syndrome is hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), which begins in early childhood. The hearing impairment worsens over time, and most affected individuals have profound hearing loss by age 10.People with DDON syndrome typically begin to develop problems with movement during their teens, although the onset of these symptoms varies among affected individuals. Some people experience involuntary tensing of the muscles (dystonia), while others have difficulty coordinating movements (ataxia). The problems with movement usually worsen over time.Individuals with DDON syndrome have normal vision during childhood, but they may develop vision problems due to breakdown of the nerves that carry information from the eyes to the brain (optic atrophy). Affected individuals can develop an increased sensitivity to light (photophobia) or other vision problems beginning in adolescence. Their sharpness of vision (visual acuity) slowly worsens, often leading to legal blindness in mid-adulthood.People with this condition may also have behavior problems, including changes in personality and aggressive or paranoid behaviors. They also usually develop a gradual decline in thinking and reasoning abilities (dementia) in their forties. The lifespan of individuals with DDON syndrome depends on the severity of the disorder. People with severe cases have survived into their teenage years, while those with milder cases have lived into their sixties.

KEGG : 36 Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochrondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration.

UniProtKB/Swiss-Prot : 73 Mohr-Tranebjaerg syndrome: An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.

Wikipedia : 74 Mohr-Tranebjærg syndrome (MTS) is a rare X-linked recessive syndrome also known as deafness-dystonia... more...

More information from OMIM: 304700
GeneReviews: NBK1216

Related Diseases for Mohr-Tranebjaerg Syndrome

Diseases related to Mohr-Tranebjaerg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 253)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 30.3 TIMM8A TIMM50 TIMM13 SUCLA2 DNAJC19
2 3-methylglutaconic aciduria 30.1 TIMM8A TIMM50 DNAJC19
3 dystonia 30.1 TIMM9 TIMM8B TIMM8A TIMM13 TIMM10B TIMM10
4 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 29.8 TIMM50 SUCLA2 DNAJC19
5 cortical blindness 29.6 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
6 denys-drash syndrome 11.5
7 dystonia, juvenile-onset 11.3
8 muir-torre syndrome 11.3
9 deafness, dystonia, and cerebral hypomyelination 11.3
10 may-thurner syndrome 10.9
11 acrocallosal syndrome 10.9
12 mismatch repair cancer syndrome 1 10.9
13 joubert syndrome 2 10.9
14 joubert syndrome 6 10.9
15 joubert syndrome 14 10.9
16 joubert syndrome 32 10.9
17 branchiootic syndrome 1 10.7
18 leprosy 3 10.7
19 hansen's disease 10.7
20 lung cancer susceptibility 3 10.6
21 ovarian cancer 10.5
22 lepromatous leprosy 10.4
23 yemenite deaf-blind hypopigmentation syndrome 10.4
24 auditory neuropathy spectrum disorder 10.4
25 gastric cancer 10.4
26 lung cancer 10.4
27 focal dystonia 10.3
28 sensorineural hearing loss 10.3
29 spasticity 10.3
30 tremor 10.3
31 nasopharyngeal carcinoma 10.3
32 spastic ataxia 5 10.2 TIMM9 TIMM17A TIMM10
33 agammaglobulinemia, x-linked 10.2
34 agammaglobulinemia 10.2
35 acrocephalopolysyndactyly type iii 10.2 TIMM8A DCAF17
36 b-cell lymphoma 10.2
37 spinocerebellar ataxia 28 10.2 TIMM9 TIMM17A TIMM10
38 torticollis 10.2
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
40 cervical dystonia 10.2
41 blepharospasm 10.2
42 retinal degeneration 10.2
43 neuropathy 10.2
44 hereditary dystonia 10.2
45 dysphagia 10.2
46 cerebral visual impairment 10.2
47 charcot-marie-tooth disease, x-linked dominant, 6 10.2 TIMM13 SMPX
48 mental retardation, x-linked, syndromic, martin-probst type 10.2 TIMM8A POU3F4
49 siddiqi syndrome 10.2
50 deafness, x-linked 3 10.1 SMPX POU3F4

Graphical network of the top 20 diseases related to Mohr-Tranebjaerg Syndrome:



Diseases related to Mohr-Tranebjaerg Syndrome

Symptoms & Phenotypes for Mohr-Tranebjaerg Syndrome

Human phenotypes related to Mohr-Tranebjaerg Syndrome:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
2 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
3 abnormal cochlea morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000375
4 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
5 generalized dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0007325
6 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
7 vestibular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0001751
8 ankle clonus 58 31 frequent (33%) Frequent (79-30%) HP:0011448
9 prelingual sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000399
10 global brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002283
11 oromandibular dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0012048
12 abnormality of somatosensory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0007377
13 absent brainstem auditory responses 58 31 frequent (33%) Frequent (79-30%) HP:0004463
14 postlingual sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008596
15 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
16 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
17 photophobia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000613
18 sensory neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000763
19 agammaglobulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004432
20 color vision defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0000551
21 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
22 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
23 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
24 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
25 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
26 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
27 postural instability 58 31 occasional (7.5%) Occasional (29-5%) HP:0002172
28 paranoia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011999
29 apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002186
30 caudate atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002340
31 central scotoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000603
32 shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002362
33 attention deficit hyperactivity disorder 58 31 very rare (1%) Very rare (<4-1%) HP:0007018
34 visual impairment 58 31 Frequent (79-30%) HP:0000505
35 mental deterioration 58 31 Frequent (79-30%) HP:0001268
36 dystonia 58 31 Frequent (79-30%) HP:0001332
37 spasticity 31 HP:0001257
38 hyperreflexia 31 HP:0001347
39 abnormal pyramidal sign 58 Frequent (79-30%)
40 dysarthria 31 HP:0001260
41 behavioral abnormality 58 Frequent (79-30%)
42 sensorineural hearing impairment 58 Frequent (79-30%)
43 abnormal electroretinogram 31 HP:0000512
44 myopia 31 HP:0000545
45 reduced visual acuity 31 HP:0007663
46 peripheral neuropathy 58 Occasional (29-5%)
47 increased susceptibility to fractures 31 HP:0002659
48 constriction of peripheral visual field 31 HP:0001133
49 progressive sensorineural hearing impairment 31 HP:0000408
50 focal dystonia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
tremor
dysphagia
more
Skeletal:
fractures

Neurologic Behavioral Psychiatric Manifestations:
behavioral/psychiatric abnormalities

Head And Neck Eyes:
photophobia
abnormal electroretinogram
myopia
decreased visual acuity
constricted visual fields
more
Head And Neck Ears:
sensorineural deafness, postlingual, progressive

Clinical features from OMIM®:

304700 (Updated 05-Mar-2021)

UMLS symptoms related to Mohr-Tranebjaerg Syndrome:


tremor, photophobia, dystonia, muscle spasticity

Drugs & Therapeutics for Mohr-Tranebjaerg Syndrome

Search Clinical Trials , NIH Clinical Center for Mohr-Tranebjaerg Syndrome

Cochrane evidence based reviews: mohr-tranebjaerg syndrome

Genetic Tests for Mohr-Tranebjaerg Syndrome

Genetic tests related to Mohr-Tranebjaerg Syndrome:

# Genetic test Affiliating Genes
1 Deafness Dystonia Syndrome 29 TIMM8A

Anatomical Context for Mohr-Tranebjaerg Syndrome

MalaCards organs/tissues related to Mohr-Tranebjaerg Syndrome:

40
Eye, Brain, Bone, Cortex, Globus Pallidus

Publications for Mohr-Tranebjaerg Syndrome

Articles related to Mohr-Tranebjaerg Syndrome:

(show top 50) (show all 66)
# Title Authors PMID Year
1
Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. 54 6 61 57 25
11803487 2001
2
A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. 25 54 6 57
11405816 2001
3
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. 54 6 25 57
10878669 2000
4
A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. 6 54 61 25
11601506 2001
5
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. 61 6 57
8841189 1996
6
The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. 57 25 61
15254020 2004
7
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. 61 57 25
7643352 1995
8
A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. 54 6 61
15710860 2005
9
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. 6 54 61
15037720 2004
10
Human deafness dystonia syndrome is a mitochondrial disease. 25 57
10051608 1999
11
X-linked Dystonia-Deafness syndrome. 57 25
9539345 1998
12
The syndrome of opticoacoustic nerve atrophy with dementia. 57 25
3425626 1987
13
Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome? 57 25
7195649 1981
14
Familial syndrome with dystonia, neural deafness, and possible intellectual impairment: clinical course and pathological findings. 25 57
181965 1976
15
Sex-linked deafness of a possibly new type. 25 57
13771732 1960
16
Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. 61 54 25
17851739 2007
17
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene. 61 54 25
17999202 2007
18
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. 61 6
16411215 2006
19
Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. 54 61 25
11489896 2001
20
The role of the TIM8-13 complex in the import of Tim23 into mitochondria. 61 54 25
11101512 2000
21
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. 61 25
30634948 2019
22
Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes. 25 61
30135625 2018
23
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. 61 25
22736418 2012
24
Otopathology in Mohr-Tranebjaerg syndrome. 61 25
17471106 2007
25
Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. 25 61
12805099 2003
26
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. 25 61
11875042 2002
27
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). 25 61
11449109 2001
28
A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness. 61 25
11338284 2001
29
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome). 25 61
10868232 2000
30
Mitochondria and dystonia: the movement disorder connection? 57
10051550 1999
31
Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome. 61 25
9017058 1996
32
Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome. 25 61
8826445 1996
33
X-linked recessive inheritance of sensorineural hearing loss expressed during adolescence. 57
1163535 1975
34
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. 25
29913018 2018
35
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. 25
21753765 2011
36
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. 61 54
19111522 2009
37
Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. 25
17936919 2008
38
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 25
17287286 2007
39
Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances. 54 61
15390009 2004
40
A prevalence study of primary dystonia in eight European countries. 25
11127535 2000
41
The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. 54 61
10611480 1999
42
How membrane proteins travel across the mitochondrial intermembrane space. 25
10542408 1999
43
Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation. 25
10053010 1999
44
Calcification of the central nervous system in a new hereditary neurological syndrome. 25
3376762 1988
45
[Two cases of X-linked mental retardation, Claes-Jensen syndrome caused by variation of KDM5C gene]. 61
32392963 2020
46
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome. 61
31903733 2020
47
Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia. 61
33013854 2020
48
Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants. 61
30290379 2019
49
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C. 61
29456765 2018
50
Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi. 61
27100856 2016

Variations for Mohr-Tranebjaerg Syndrome

ClinVar genetic disease variations for Mohr-Tranebjaerg Syndrome:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIMM8A NM_004085.4(TIMM8A):c.116del (p.Met39fs) Deletion Pathogenic 11318 rs869320664 X:100603537-100603537 X:101348549-101348549
2 TIMM8A NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs) Deletion Pathogenic 11319 rs869320733 X:100601624-100601633 X:101346636-101346645
3 TIMM8A NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) SNV Pathogenic 11320 rs111033631 X:100603583-100603583 X:101348595-101348595
4 TIMM8A NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) SNV Pathogenic 11321 rs80356560 X:100601583-100601583 X:101346595-101346595
5 TIMM8A NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) Deletion Pathogenic 11322 rs869320665 X:100603580-100603580 X:101348592-101348592
6 TIMM8A TIMM8A, DEL Deletion Pathogenic 11323
7 TIMM8A NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) SNV Pathogenic 11324 rs1054894 X:100601543-100601543 X:101346555-101346555
8 TIMM8A NM_004085.4(TIMM8A):c.133-23A>C SNV Pathogenic 11325 rs869320666 X:100601671-100601671 X:101346683-101346683
9 TIMM8A NM_004085.4(TIMM8A):c.127del (p.Cys43fs) Deletion Pathogenic 11326 rs869320667 X:100603526-100603526 X:101348538-101348538
10 TIMM8A NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) SNV Pathogenic 21393 rs80356559 X:100603541-100603541 X:101348553-101348553
11 TIMM8A NC_000023.11:g.(?_101346475)_(101348757_?)del Deletion Pathogenic 929951 X:100601463-100603745
12 TIMM8A NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) SNV Likely pathogenic 804062 rs1602996815 X:100603526-100603526 X:101348538-101348538
13 TIMM8A NM_004085.4(TIMM8A):c.*503_*505dup Duplication Benign 21394 rs4024308 X:100600981-100600982 X:101345993-101345994

UniProtKB/Swiss-Prot genetic disease variations for Mohr-Tranebjaerg Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 TIMM8A p.Cys66Trp VAR_010237 rs80356560

Expression for Mohr-Tranebjaerg Syndrome

Search GEO for disease gene expression data for Mohr-Tranebjaerg Syndrome.

Pathways for Mohr-Tranebjaerg Syndrome

Pathways related to Mohr-Tranebjaerg Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 TIMM9 TIMM8B TIMM8A TIMM50 TIMM23 TIMM17A
2 11.11 TIMM9 TIMM8B TIMM8A TIMM50 TIMM23 TIMM17A

GO Terms for Mohr-Tranebjaerg Syndrome

Cellular components related to Mohr-Tranebjaerg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.34 TIMM9 TIMM8B TIMM8A TIMM50 TIMM29 TIMM23B
2 mitochondrion GO:0005739 10.13 TIMM9 TIMM8B TIMM8A TIMM50 TIMM29 TIMM23B
3 TIM23 mitochondrial import inner membrane translocase complex GO:0005744 9.65 TIMM50 TIMM23B TIMM23 TIMM17A TIMM10
4 integral component of mitochondrial inner membrane GO:0031305 9.58 TIMM23B TIMM23 TIMM17A
5 mitochondrial intermembrane space GO:0005758 9.56 TIMM9 TIMM8B TIMM8A TIMM29 TIMM23 TIMM13
6 mitochondrial intermembrane space protein transporter complex GO:0042719 9.55 TIMM9 TIMM8B TIMM13 TIMM10B TIMM10
7 mitochondrial inner membrane GO:0005743 9.4 TIMM9 TIMM8B TIMM8A TIMM50 TIMM29 TIMM23B
8 TIM22 mitochondrial import inner membrane insertion complex GO:0042721 9.37 TIMM29 TIMM10B

Biological processes related to Mohr-Tranebjaerg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 TIMM9 TIMM8B TIMM8A TIMM50 TIMM29 TIMM23B
2 sensory perception of sound GO:0007605 9.77 TIMM9 TIMM8B TIMM13 TIMM10 POU3F4
3 protein import into mitochondrial matrix GO:0030150 9.72 TIMM50 TIMM23B TIMM23 TIMM17A DNAJC19
4 chaperone-mediated protein transport GO:0072321 9.65 TIMM9 TIMM8B TIMM8A TIMM13 TIMM10
5 protein import into mitochondrial inner membrane GO:0045039 9.43 TIMM9 TIMM8B TIMM29 TIMM13 TIMM10B TIMM10
6 protein targeting to mitochondrion GO:0006626 9.23 TIMM9 TIMM8B TIMM23 TIMM17A TIMM13 TIMM10B

Molecular functions related to Mohr-Tranebjaerg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.55 TIMM9 TIMM8B TIMM13 TIMM10 DRP2
2 protein transmembrane transporter activity GO:0008320 9.13 TIMM23B TIMM23 TIMM17A
3 P-P-bond-hydrolysis-driven protein transmembrane transporter activity GO:0015450 8.8 TIMM23B TIMM23 TIMM17A

Sources for Mohr-Tranebjaerg Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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