Mitochondrial Dna Depletion Syndrome 7 (MTDPS7)

Alias:

Ohaha Syndrome

Infantile Onset Spinocerebellar Ataxia

Iosca

Infantile-Onset Spinocerebellar Ataxia

Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome

Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form

Spinocerebellar Ataxia 8

Mtdps7

Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis

Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, and Athetosis

Spinocerebellar Ataxia, Infantile, with Sensory Neuropathy

Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type

Ophthalmoplegia Hypotonia Ataxia Hypoacusis and Athetosis

Spinocerebellar Ataxia Infantile with Sensory Neuropathy

Mtdna Depletion Syndrome, Hepatocerebrorenal Form

Mitochondrial Dna Depletion Syndrome , Type 7

Iosca, Mitochondrial Dna Depletion Syndrome 7

Pure Spinocerebellar Ataxia Japanese Type

Spinocerebellar Ataxia, Infantile-Onset

Spinocerebellar Ataxia Infantile-Onset

Spinocerebellar Ataxia 8, Formerly

Sca4 Pure Japanese Type

Sca8, Formerly

Sca8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 7, also known as ohaha syndrome, is related to spinocerebellar ataxia, autosomal recessive 8 and parkinsonism, and has symptoms including muscle spasticity, tremor and abnormal pyramidal signs. An important gene associated with Mitochondrial Dna Depletion Syndrome 7 is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways are Primary ovarian insufficiency and Valproic Acid Pathway, Pharmacodynamics. Affiliated tissues include liver and spinal cord, and related phenotypes are ataxia and hearing impairment

Related ID：

MALACARDS：MTC054

OMIM：271245

MESH：C535523