Mitochondrial dna depletion syndrome 7 (hepatocerebral type)

Preferred Label : Mitochondrial dna depletion syndrome 7 (hepatocerebral type);

Symbol : MTDPS7;

CISMeF acronym : MTDPS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCA8; IOSCA; Spinocerebellar ataxia, infantile, with sensory neuropathy; Spinocerebellar ataxia 8; Ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis; Ohaha syndrome; Spinocerebellar ataxia, infantile-onset;

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 (see, e.g., SCA1, 164400) (Koskinen et al., 1994), it has been reclassified as a mitochondrial DNA depletion syndrome (Hakonen et al., 2008) based on the finding of mtDNA depletion in the brain and liver of affected individuals. For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the T7 gene 4-like protein with intramitochondrial nucleoid localization gene (C10orf2, 606075.0012);

Laboratory abnormalities : Abnormal liver enzymes (rare);

Prefixed ID : #271245;

Details

Origin ID

271245;

UMLS CUI

C1849096;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia 8 [MeSH concept]
- Spinocerebellar ataxia type 8 [ORDO Disease]
- Spinocerebellar ataxia type 8 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 8 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Infantile onset spinocerebellar ataxia [ICD-11 More detail]
- Infantile onset spinocerebellar ataxia [MeSH concept]
- Infantile onset spinocerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- infantile onset spinocerebellar ataxia [Disease (Nov.)]
- infantile onset spinocerebellar ataxia [DO Concept]
- infantile onset spinocerebellar ataxia [MeSH Supplementary Concept]
- mitochondrial DNA depletion syndrome 7 [DO Concept]
DO Cross reference
- mitochondrial DNA depletion syndrome 7 [DO Concept]
Genes related to phenotype
- Twinkle mtdna helicase [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Atrophy/Degeneration affecting the brainstem [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clumsiness [HPO term]
- Deafness [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated liver enzymes [HPO term]
- Encephalopathy [HPO term]
- Epilepsia partialis continua [HPO term]
- Epilepsy [HPO term]
- Epileptic encephalopathy [HPO term]
- Excessive daytime somnolence [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Loss of ability to walk [HPO term]
- Migraine [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Optic atrophy [HPO term]
- Poor eye contact [HPO term]
- Progressive [HPO term]
- Psychosis [HPO term]
- Sensory axonal neuropathy [HPO term]
- Specific learning disability [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile onset spinocerebellar ataxia [MeSH concept]
- Infantile onset spinocerebellar ataxia [ICD-11 More detail]
- Infantile onset spinocerebellar ataxia (disorder) [SNOMED CT concept]
- Infantile-onset spinocerebellar ataxia [ORDO Disease]
- infantile onset spinocerebellar ataxia [MeSH Supplementary Concept]
- infantile onset spinocerebellar ataxia [DO Concept]
- infantile onset spinocerebellar ataxia [Disease (Nov.)]
- mitochondrial DNA depletion syndrome 7 [DO Concept]

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