LDYT
MCID: LBR020
MIFTS: 21

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Leber hereditary optic neuropathy (lhon) with dystonia is a very rare variant of lhon where an individual has lhon associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. it is caused by mutations in one of three mitochondrial genes: mt-nd1, mt-nd3, mt-nd4, and mt-nd6. other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. the dystonia usually begins in childhood; vision loss may begin in early adulthood. last updated: 7/7/2011

MalaCards: Leber Hereditary Optic Neuropathy with Dystonia, also known as leber optic atrophy and dystonia, is related to marsden nyhan sakati syndrome and leigh disease. An important gene associated with Leber Hereditary Optic Neuropathy with Dystonia is MT-ND6 (mitochondrially encoded NADH dehydrogenase 6), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds Ubiquinol 8 and Sulfide have been mentioned in the context of this disorder.

Description from OMIM:47 500001

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

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43NIH Rare Diseases, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


Aliases & Descriptions:

leber hereditary optic neuropathy with dystonia 43 47
leber optic atrophy and dystonia 43 62
dystonia familial, with visual failure and striatal lucencies 43
leber's hereditary optic neuropathy with dystonia 43
optic atrophy, hereditary, leber 62
lhon and dystonia 43
marsden syndrome 43
ldyt 43


Related Diseases for Leber Hereditary Optic Neuropathy with Dystonia

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17GeneCards, 18GeneDecks
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Diseases related to Leber Hereditary Optic Neuropathy with Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1marsden nyhan sakati syndrome10.4
2leigh disease10.1MT-ND4
3melas syndrome10.0MT-ND6
4optic nerve disease10.0MT-ND6, MT-ND4
5mitochondrial dna-associated leigh syndrome and narp10.0MT-ND4, MT-ND6
6leber hereditary optic neuropathy10.0MT-ND6, MT-ND4
7mitochondrial disorders9.9MT-ND6, MT-ND4

Graphical network of diseases related to Leber Hereditary Optic Neuropathy with Dystonia:



Diseases related to leber hereditary optic neuropathy with dystonia

Symptoms for Leber Hereditary Optic Neuropathy with Dystonia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

500001

Clinical features from OMIM:

500001

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy with Dystonia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Leber Hereditary Optic Neuropathy with Dystonia

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Anatomical Context for Leber Hereditary Optic Neuropathy with Dystonia

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Animal Models for Leber Hereditary Optic Neuropathy with Dystonia or affiliated genes

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Publications for Leber Hereditary Optic Neuropathy with Dystonia

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Variations for Leber Hereditary Optic Neuropathy with Dystonia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy with Dystonia:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-ND6m.14459G> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
2MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
3MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
4MT-ND3m.10197G> Asingle nucleotide variantPathogenicrs267606891GRCh37Chr MT, 10197: 10197
5MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697

Expression for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Leber Hereditary Optic Neuropathy with Dystonia.

Pathways for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MT-ND6, MT-ND4

Compounds for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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24HMDB, 45Novoseek, 29IUPHAR, 11DrugBank
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Compounds related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Ubiquinol 8249.4MT-ND6, MT-ND4
2Sulfide249.4MT-ND6, MT-ND4
3QH2249.3MT-ND4, MT-ND6
4Ubiquinone Q2249.3MT-ND6, MT-ND4
5Ubiquinone Q1249.3MT-ND4, MT-ND6
6isoleucine459.2MT-ND4, MT-ND6
7FAD249.2MT-ND6, MT-ND4
8valine459.1MT-ND6, MT-ND4
9iron45 2410.1MT-ND6, MT-ND4
10nad29 2410.0MT-ND4, MT-ND6
11nadh45 24 1110.8MT-ND6, MT-ND4

GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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Products for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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Sources for Leber Hereditary Optic Neuropathy with Dystonia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet