MTS
MCID: MHR001
MIFTS: 44

Mohr-Tranebjaerg Syndrome (MTS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mohr-Tranebjaerg Syndrome

MalaCards integrated aliases for Mohr-Tranebjaerg Syndrome:

Name: Mohr-Tranebjaerg Syndrome 58 12 25 54 76 38 30 13 56 6 45 41 74 77 26
Jensen Syndrome 58 12 54 26 76 38 13 74
Deafness-Dystonia-Optic Neuronopathy Syndrome 12 25 54 26 15
Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency 58 54 26
Opticoacoustic Nerve Atrophy with Dementia 58 26 76
Deafness-Dystonia-Optic Atrophy Syndrome 58 54 26
Dds 58 54 76
Mts 58 54 76
Dystonia-Deafness Syndrome 58 76
Deafness Dystonia Syndrome 12 54
Dfn-1 25 76
Ddp 58 54
Syndrome of Opticoacoustic Nerve Atrophy with Dementia 54
Deafness - Dystonia - Optic Neuronopathy Syndrome 54
Nerve Deafness Optic Nerve Atrophy, and Dementia 54
Deafness-Dystonia-Optic Neuronopathy Syndrome 54
Deafness-Dystonia-Optic Atrophy Syndrome; Ddp 58
Deafness Dystonia Optic Neuronopathy Syndrome 12
Atrophy, Nerve, Opticoacoustic, with Dementia 41
Opticoacustic Nerve Atrophy with Dementia 54
Deafness Dystonia Optic Atrophy Syndrome 12
Opticoacoustic Nerve Atrophy Dementia 54
X-Linked Progressive Deafness Type 1 76
Dystonia-Deafness Syndrome; Dds 58
Dystonia Deafness Syndrome 12
Deafness-Dystonia Syndrome 25
Ddon Syndrome 54

Characteristics:

OMIM:

58
Miscellaneous:
onset in childhood
deafness is presenting symptom

Inheritance:
x-linked recessive


HPO:

33
mohr-tranebjaerg syndrome:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mohr-Tranebjaerg Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52368Disease definitionMohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome 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.EpidemiologyPrevalence 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). 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 genedeletion syndrome (CGS), recurrent infections may be present. Carrier females may be mildly affected with mild hearing impairment and focal 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; see this term) 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 (see these terms).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.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. Management of dystonia and ataxia includes treatment with GABA β-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 jensen syndrome, is related to 3-methylglutaconic aciduria, type iii and gorlin bushkell jensen syndrome, 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 is Mitochondrial protein import. Affiliated tissues include testes, brain and bone, and related phenotypes are spasticity and dysarthria

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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as deafness–dystonia... more...

Description 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 262)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.7 DNAJC19 SERAC1 TIMM8A
2 gorlin bushkell jensen syndrome 12.1
3 dentin dysplasia, type i 12.0
4 denys-drash syndrome 12.0
5 dentin dysplasia, type ii 12.0
6 muir-torre syndrome 12.0
7 dentin dysplasia 11.7
8 diabetes and deafness, maternally inherited 11.5
9 may-thurner syndrome 11.3
10 darier-white disease 11.3
11 diastrophic dysplasia 11.3
12 deafness, dystonia, and cerebral hypomyelination 11.1
13 dystonia, juvenile-onset 11.1
14 chondrodysplasia punctata, tibia-metacarpal type 11.1
15 alzheimer disease mitochondrial 11.1
16 myoglobinuria, recurrent 11.1
17 dissociative disorder 11.1
18 acrocallosal syndrome 11.0
19 cardiomyopathy, infantile histiocytoid 11.0
20 myoclonic epilepsy associated with ragged-red fibers 11.0
21 joubert syndrome 2 11.0
22 joubert syndrome 6 11.0
23 joubert syndrome 14 11.0
24 joubert syndrome 32 11.0
25 dystonia 10.9
26 focal dystonia 10.4
27 blepharospasm 10.4
28 neuropathy 10.4
29 auditory neuropathy spectrum disorder 10.4
30 lepromatous leprosy 10.4
31 arteries, anomalies of 10.2
32 coronary artery anomaly 10.2
33 small cell cancer of the lung 10.2
34 microvascular complications of diabetes 3 10.1
35 microvascular complications of diabetes 4 10.1
36 microvascular complications of diabetes 6 10.1
37 microvascular complications of diabetes 7 10.1
38 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
39 acute mountain sickness 10.1
40 myopathy 10.1
41 myocardial infarction 10.1
42 lung cancer susceptibility 3 10.1
43 squamous cell carcinoma 10.1
44 multiple sclerosis 10.0
45 diabetes mellitus 10.0
46 thrombosis 10.0
47 gastroparesis 10.0
48 alzheimer disease 10.0
49 epilepsy 10.0
50 multifocal lymphangioendotheliomatosis with thrombocytopenia 10.0

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 dysarthria 33 HP:0001260
3 tremor 33 HP:0001337
4 hyperreflexia 33 HP:0001347
5 dysphagia 33 HP:0002015
6 visual impairment 33 HP:0000505
7 photophobia 33 HP:0000613
8 abnormal electroretinogram 33 HP:0000512
9 myopia 33 HP:0000545
10 dystonia 33 HP:0001332
11 reduced visual acuity 33 HP:0007663
12 mental deterioration 33 HP:0001268
13 constriction of peripheral visual field 33 HP:0001133
14 increased susceptibility to fractures 33 HP:0002659
15 progressive sensorineural hearing impairment 33 HP:0000408
16 abnormal posturing 33 HP:0002533
17 cerebral visual impairment 33 HP:0100704
18 postlingual sensorineural hearing impairment 33 HP:0008596

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dysarthria
tremor
hyperreflexia
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

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 Mohr-Tranebjaerg Syndrome 30 TIMM8A

Anatomical Context for Mohr-Tranebjaerg Syndrome

MalaCards organs/tissues related to Mohr-Tranebjaerg Syndrome:

42
Testes, Brain, Bone, Globus Pallidus

Publications for Mohr-Tranebjaerg Syndrome

Articles related to Mohr-Tranebjaerg Syndrome:

(show all 17)
# Title Authors Year
1
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. ( 30634948 )
2019
2
Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants. ( 30290379 )
2018
3
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C. ( 29456765 )
2018
4
First Report of a Filipino with Mohr-Tranebjaerg Syndrome. ( 30363500 )
2015
5
Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation. ( 23801560 )
2013
6
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. ( 22736418 )
2012
7
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes. ( 18952432 )
2008
8
Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. ( 17534980 )
2007
9
Otopathology in Mohr-Tranebjaerg syndrome. ( 17471106 )
2007
10
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene. ( 17999202 )
2007
11
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. ( 16411215 )
2006
12
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. ( 15037720 )
2004
13
Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances. ( 15390009 )
2004
14
A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. ( 11601506 )
2001
15
Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). ( 11449109 )
2001
16
X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome). ( 10868232 )
2000
17
Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome. ( 9017058 )
1996

Variations for Mohr-Tranebjaerg Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 TIMM8A p.Cys66Trp VAR_010237 rs80356560

ClinVar genetic disease variations for Mohr-Tranebjaerg Syndrome:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TIMM8A NM_004085.3(TIMM8A): c.116delT (p.Met39Argfs) deletion Pathogenic rs869320664 GRCh37 Chromosome X, 100603537: 100603537
2 TIMM8A NM_004085.3(TIMM8A): c.116delT (p.Met39Argfs) deletion Pathogenic rs869320664 GRCh38 Chromosome X, 101348549: 101348549
3 TIMM8A NM_004085.3(TIMM8A): c.148_157delAAGCCTGGGC (p.Lys50Glnfs) deletion Pathogenic rs869320733 GRCh38 Chromosome X, 101346636: 101346645
4 TIMM8A NM_004085.3(TIMM8A): c.148_157delAAGCCTGGGC (p.Lys50Glnfs) deletion Pathogenic rs869320733 GRCh37 Chromosome X, 100601624: 100601633
5 TIMM8A NM_004085.3(TIMM8A): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs111033631 GRCh37 Chromosome X, 100603583: 100603583
6 TIMM8A NM_004085.3(TIMM8A): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs111033631 GRCh38 Chromosome X, 101348595: 101348595
7 TIMM8A NM_004085.3(TIMM8A): c.198C> G (p.Cys66Trp) single nucleotide variant Pathogenic rs80356560 GRCh37 Chromosome X, 100601583: 100601583
8 TIMM8A NM_004085.3(TIMM8A): c.198C> G (p.Cys66Trp) single nucleotide variant Pathogenic rs80356560 GRCh38 Chromosome X, 101346595: 101346595
9 TIMM8A NM_004085.3(TIMM8A): c.73delG (p.Val25Terfs) deletion Pathogenic rs869320665 GRCh37 Chromosome X, 100603580: 100603580
10 TIMM8A NM_004085.3(TIMM8A): c.73delG (p.Val25Terfs) deletion Pathogenic rs869320665 GRCh38 Chromosome X, 101348592: 101348592
11 TIMM8A TIMM8A, DEL deletion Pathogenic
12 TIMM8A NM_004085.3(TIMM8A): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic rs1054894 GRCh37 Chromosome X, 100601543: 100601543
13 TIMM8A NM_004085.3(TIMM8A): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic rs1054894 GRCh38 Chromosome X, 101346555: 101346555
14 TIMM8A NM_004085.3(TIMM8A): c.133-23A> C single nucleotide variant Pathogenic rs869320666 GRCh37 Chromosome X, 100601671: 100601671
15 TIMM8A NM_004085.3(TIMM8A): c.133-23A> C single nucleotide variant Pathogenic rs869320666 GRCh38 Chromosome X, 101346683: 101346683
16 TIMM8A NM_004085.3(TIMM8A): c.127delT (p.Cys43Valfs) deletion Pathogenic rs869320667 GRCh37 Chromosome X, 100603526: 100603526
17 TIMM8A NM_004085.3(TIMM8A): c.127delT (p.Cys43Valfs) deletion Pathogenic rs869320667 GRCh38 Chromosome X, 101348538: 101348538
18 TIMM8A NM_004085.3(TIMM8A): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic rs80356559 GRCh37 Chromosome X, 100603541: 100603541
19 TIMM8A NM_004085.3(TIMM8A): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic rs80356559 GRCh38 Chromosome X, 101348553: 101348553
20 TIMM8A NM_004085.3(TIMM8A): c.*502_*504dupTGA duplication Benign rs4024308 GRCh37 Chromosome X, 100600983: 100600985
21 TIMM8A NM_004085.3(TIMM8A): c.*502_*504dupTGA duplication Benign rs4024308 GRCh38 Chromosome X, 101345995: 101345997

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 10.59 DNAJC19 TIMM13 TIMM8A

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 mitochondrion GO:0005739 9.46 DNAJC19 SERAC1 TIMM13 TIMM8A
2 mitochondrial intermembrane space GO:0005758 8.96 TIMM13 TIMM8A
3 mitochondrial inner membrane GO:0005743 8.8 DNAJC19 TIMM13 TIMM8A

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 9.43 DNAJC19 TIMM13 TIMM8A
2 phospholipid biosynthetic process GO:0008654 9.16 FITM2 SERAC1
3 protein targeting to mitochondrion GO:0006626 8.96 DNAJC19 TIMM13
4 chaperone-mediated protein transport GO:0072321 8.62 TIMM13 TIMM8A

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

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 9.13 FITM2 SERAC1 TAF7L
2 protein transporter activity GO:0008565 8.62 DNAJC19 TIMM13

Sources for Mohr-Tranebjaerg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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