Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

LEBER OPTIC ATROPHY AND DYSTONIA
Synonyms

MARSDEN SYNDROME

DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES

LDYT

LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA
ID

http://purl.bioontology.org/ontology/OMIM/500001
altLabel

MARSDEN SYNDROME

DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES

LDYT

LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA
cui

C1839040
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006794

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU022593

http://purl.bioontology.org/ontology/OMIM/MTHU004613

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU006792

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU006791

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU021502

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU003180

http://purl.bioontology.org/ontology/OMIM/MTHU024939

http://purl.bioontology.org/ontology/OMIM/MTHU006793
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

224570
notation

500001
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LEBER OPTIC ATROPHY AND DYSTONIA
Scope Statement

Caused by mutation in the mitochondrial complex I, subunit ND3 gene (MTND3, 516002.0004) [MOLECULAR BASIS]

Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, 516000.0012) [MOLECULAR BASIS]

Patients may show both optic neuropathy and dystonia or only 1 disorder [MISCELLANEOUS]

Onset of optic neuropathy is usually in early adulthood [MISCELLANEOUS]

Caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6, 516006.0002) [MOLECULAR BASIS]

Onset of dystonia is in childhood [MISCELLANEOUS]

Considered part of a spectrum of Leber hereditary optic atrophy (LHON, 535000) [MISCELLANEOUS]

Caused by mutation in the mitochondrial complex I, subunit ND4 gene (MTND4, 516003.0003) [MOLECULAR BASIS]
tui

T047
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