Mohr-Tranebjaerg Syndrome (MTS)

Alias:

Deafness-Dystonia-Optic Neuronopathy Syndrome

Jensen Syndrome

Opticoacoustic Nerve Atrophy with Dementia

Deafness Dystonia Syndrome

Deafness Syndrome, Progressive, with Blindness, Dystonia, Fractures, and Mental Deficiency

Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

Deafness-Dystonia-Optic Atrophy Syndrome

Ddon Syndrome

Mts

Deafness Dystonia Optic Neuronopathy Syndrome

Deafness Dystonia Optic Atrophy Syndrome

Opticoacoustic Nerve Atrophy Dementia

Dystonia-Deafness Syndrome, X-Linked

X-Linked Progressive Deafness Type 1

Dystonia Deafness Syndrome

Dystonia-Deafness Syndrome

Dfn-1

Ddsx

Ddon

Dds

Ddp

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mohr-Tranebjaerg Syndrome, also known as deafness-dystonia-optic neuronopathy syndrome, is related to dystonia and x-linked nonsyndromic deafness, and has symptoms including dystonia, muscle spasticity and tremor. An important gene associated with Mohr-Tranebjaerg Syndrome is TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include eye and brain, and related phenotypes are abnormal pyramidal sign and sensorineural hearing impairment

Related ID：

MALACARDS：MHR001

OMIM：304700

MESH：C535808