Mohr-tranebjaerg Syndrome

Description

Mohr-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.

Clinical Features

Top most frequent phenotypes and symptoms related to Mohr-tranebjaerg Syndrome

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Myopia
  • Optic atrophy

And another 24 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Mohr-tranebjaerg Syndrome Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency, deafness-dystonia-optic atrophy syndrome, deafness-dystonia-optic neuronopathy syndrome, dystonia-deafness syndrome, ddon syndrome, opticoacoustic nerve atrophy with de.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Mohr-tranebjaerg Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
TIMM8A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TIMM8A
Specificity
100 %
Genes
100 %
TIMM8A Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TIMM8A
Specificity
100 %
Genes
100 %
TIMM8A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TIMM8A
Specificity
100 %
Genes
100 %
TIMM8A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TIMM8A
Specificity
100 %
Genes
100 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %

We have 91 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more