Mitochondrial DNA Depletion Syndrome 7 (Hepatocerebral Type)

Alternative Names

  • MTDPS7
  • Spinocerebellar Ataxia, Infantile-Onset
  • IOSCA
  • Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, and Athetosis
  • OHAHA Syndrome
  • Spinocerebellar Ataxia, Infantile. with Sensory Neuropathy
  • Spinocerebellar Ataxia 8
  • SCA8

Associated Genes

Twinkle mtDNA Helicase
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

271245

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q24.31

Description

Mitochondrial DNA depletion syndrome-7 is an autosomal recessive severe neurodegenerative disorder characterized primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy. Although originally classified as a form of spinocerebellar ataxia , it has been reclassified as a mitochondrial DNA depletion syndrome based on the finding of mtDNA depletion in the brain and liver of affected individuals. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
271245.1LebanonMale Microcephaly; Delayed speech and langua...NM_021830.5:c.1003C>AHomozygousAutosomal, RecessiveNair et al. 2018
271245.2United Arab EmiratesUnknownYes Developmental regression; Hearing impai...NM_021830.5:c.1198C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Has two cousins with...
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