LDYT
MCID: LBR020
MIFTS: 21

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 500001

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

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44NIH Rare Diseases, 48OMIM, 63UMLS
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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 44 48
leber optic atrophy and dystonia 44 63
dystonia familial, with visual failure and striatal lucencies 44
leber's hereditary optic neuropathy with dystonia 44
optic atrophy, hereditary, leber 63
lhon and dystonia 44
marsden syndrome 44
ldyt 44


Related Diseases for Leber Hereditary Optic Neuropathy with Dystonia

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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16Gene 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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51PathCards, 56Reactome, 31KEGG, 39NCBI 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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Sources:
25HMDB, 46Novoseek, 30IUPHAR, 12DrugBank
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Compounds related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Ubiquinol 8259.4MT-ND6, MT-ND4
2Sulfide259.4MT-ND6, MT-ND4
3QH2259.3MT-ND4, MT-ND6
4Ubiquinone Q2259.3MT-ND6, MT-ND4
5Ubiquinone Q1259.3MT-ND4, MT-ND6
6isoleucine469.2MT-ND4, MT-ND6
7FAD259.2MT-ND6, MT-ND4
8valine469.1MT-ND6, MT-ND4
9iron46 2510.1MT-ND6, MT-ND4
10nad30 2510.0MT-ND4, MT-ND6
11nadh46 25 1210.8MT-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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet