Leber optic atrophy and dystonia

Preferred Label : Leber optic atrophy and dystonia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LDYT; Dystonia, familial, with visual failure and striatal lucencies; Leber hereditary optic neuropathy with dystonia; Marsden syndrome;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6, 516006.0002); Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, 516000.0012); Caused by mutation in the mitochondrial complex I, subunit ND4 gene (MTND4, 516003.0003); Caused by mutation in the mitochondrial complex I, subunit ND3 gene (MTND3, 516002.0004);

Laboratory abnormalities : Decreased mitochondrial complex I activity; Increased serum and CSF lactate;

Prefixed ID : #500001;

Details

Origin ID

500001;

UMLS CUI

C1839040;

Automatic exact mappings (from CISMeF team)
- Leber hereditary optic neuropathy and dystonia [DO Concept]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]
Currated CISMeF NLP mapping
- Marsden syndrome [MeSH concept]
- marsden syndrome [MeSH Supplementary Concept]
DO Cross reference
- Leber hereditary optic neuropathy and dystonia [DO Concept]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Athetosis [HPO term]
- Bradykinesia [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Intellectual disability [HPO term]
- Leber optic atrophy [HPO term]
- Mitochondrial inheritance [HPO term]
- Optic atrophy [HPO term]
- Peripheral neuropathy [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Upper motor neuron dysfunction [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Leber plus disease [ORDO Disease]
See also inter- (CISMeF)
- Leber plus disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marsden syndrome [MeSH concept]
- marsden syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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