Striatonigral degeneration, infantile, mitochondrial

Preferred Label : Striatonigral degeneration, infantile, mitochondrial;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile bilateral striatal necrosis, mitochondrial; Bilateral striatal necrosis, infantile, mitochondrial;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial-encoded ATP synthase 6 gene (MTATP6, 516060.0005);

Prefixed ID : #500003;

Details

Origin ID

500003;

UMLS CUI

C1839022;

Automatic exact mappings (from CISMeF team)
- Familial infantile bilateral striatal necrosis [ORDO Disease]
Currated CISMeF NLP mapping
- striatonigral degeneration, infantile, mitochondrial [MeSH concept]
- striatonigral degeneration, infantile, mitochondrial [MeSH Supplementary Concept]
DO Cross reference
- striatonigral degeneration [DO Concept]
HPO term(s)
- Babinski sign [HPO term]
- Brisk reflexes [HPO term]
- Childhood onset [HPO term]
- Chorea [HPO term]
- Choreoathetosis, episodic [HPO term]
- Clonus [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Difficulty walking [HPO term]
- Facial grimacing [HPO term]
- Frequent falls [HPO term]
- Global developmental delay [HPO term]
- Headache [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lingual dystonia [HPO term]
- Mild microcephaly [HPO term]
- Mitochondrial inheritance [HPO term]
- Motor tics [HPO term]
- Myoclonus [HPO term]
- Ophthalmoparesis [HPO term]
- Paroxysmal choreoathetosis [HPO term]
- Poor motor coordination [HPO term]
- Ragged-red muscle fibers [HPO term]
- Striatal T2 hyperintensity [HPO term]
ORDO concept(s)
- Familial infantile bilateral striatal necrosis [ORDO Disease]
- Infantile bilateral striatal necrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- striatonigral degeneration, infantile, mitochondrial [MeSH Supplementary Concept]
- striatonigral degeneration, infantile, mitochondrial [MeSH concept]

Keyword's position in hierarchy(ies) :

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