Leber optic atrophy

Preferred Label : Leber optic atrophy;

CISMeF acronym : LHON;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leber hereditary optic neuropathy; LHON;

Inheritance : Mitochondrial;

Molecular basis : Caused by mutation in the ATP synthase 6 gene (MTAP6, 516060.0003); Caused by mutation in the complex I, subunit ND5 gene (MTND5, 516005.0001); Caused by mutation in the complex I, subunit ND1 gene (MTND1, 516000.0001); Caused by mutation in the complex I, subunit ND4 gene (MTND4, 516003.0001); Caused by mutation in the complex I, subunit ND4L gene (MTND4L, 516004.0002); Caused by mutation in the complex I, subunit ND2 gene (MTND2, 516001.0001); Caused by mutation in the cytochrome b of complex III gene (MTCYB, 516020.0001); Caused by mutation in the complex IV, cytochrome c oxidase subunit I gene (MTCO1, 516030.0001); Caused by mutation in the complex I, subunit ND6 gene (MTND6, 516006.0001); Caused by mutation in the cytochrome c oxidase III gene (MTCO3, 516050.0001);

Prefixed ID : #535000;

Details

Origin ID

535000;

UMLS CUI

C0917796;

Automatic exact mappings (from CISMeF team)
- Leber hereditary optic neuropathy [DO Concept]
Currated CISMeF NLP mapping
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ICD-11 More detail]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber optic atrophy [HPO term]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- leber's optic atrophy [SNOMED Notion]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]
DO Cross reference
- Leber hereditary optic neuropathy [DO Concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Central retinal vessel vascular tortuosity [HPO term]
- Centrocecal scotoma [HPO term]
- Dystonia [HPO term]
- Heterogeneous [HPO term]
- Incomplete penetrance [HPO term]
- Leber optic atrophy [HPO term]
- Mitochondrial inheritance [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
- Myopathy [HPO term]
- Optic atrophy [HPO term]
- Optic neuropathy [HPO term]
- Polyneuropathy [HPO term]
- Postural tremor [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Leber hereditary optic neuropathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leber Hereditary Optic Atrophy [NCIt concept]
- Leber hereditary optic atrophy [Disease (Nov.)]
- Leber hereditary optic neuropathy [ORDO Disease]
- Leber hereditary optic neuropathy [DO Concept]
- Leber optic atrophy [HPO term]
- Leber's hereditary optic atrophy neuropathy [MedDRA LLT]
- Leber's optic atrophy (disorder) [SNOMED CT concept]
- leber's optic atrophy [SNOMED Notion]
- optic atrophy, hereditary, leber [MeSH Descriptor]
- optic atrophy, hereditary, leber [MeSH concept]

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