LDYT
MCID: LBR020
MIFTS: 21

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

Eye diseases, Neuronal diseases, Genetic diseases categories

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 leber hereditary optic neuropathy and marsden nyhan sakati syndrome. An important gene associated with Leber Hereditary Optic Neuropathy with Dystonia is MT-ND6 (mitochondrially encoded NADH dehydrogenase 6), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds isoleucine and iron have been mentioned in the context of this disorder.

Description from OMIM:46 500001

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

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42NIH Rare Diseases, 46OMIM, 60UMLS
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Classifications:

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


Aliases & Descriptions:

leber hereditary optic neuropathy with dystonia 42 46
leber optic atrophy and dystonia 42 60
dystonia familial, with visual failure and striatal lucencies 42
leber's hereditary optic neuropathy with dystonia 42
optic atrophy, hereditary, leber 60
lhon and dystonia 42
ldyt 42


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
1leber hereditary optic neuropathy30.3MT-ND4, MT-ND6
2marsden nyhan sakati syndrome10.3
3melas syndrome10.0MT-ND6
4leigh disease10.0MT-ND4
5mitochondrial complex i deficiency10.0MT-ND6, MT-ND3
6opa3-related 3-methylglutaconic aciduria10.0MT-ND4
7optic nerve disease10.0MT-ND6, MT-ND4
8mitochondrial disorders10.0MT-ND6, MT-ND4
9mitochondrial dna-associated leigh syndrome and narp10.0MT-ND3, MT-ND6, MT-ND4

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



Diseases related to leber hereditary optic neuropathy with dystonia

Clinical Features for Leber Hereditary Optic Neuropathy with Dystonia

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46OMIM
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Clinical features from OMIM:

500001

Clinical synopsis from OMIM:

500001

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy with Dystonia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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Genetic Variations for Leber Hereditary Optic Neuropathy with Dystonia

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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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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1isoleucine449.0MT-ND6, MT-ND4
2iron44 2410.0MT-ND4, MT-ND6
3valine448.9MT-ND4, MT-ND6
4pyruvate448.8MT-ND3, MT-ND4
5nad28 249.6MT-ND3, MT-ND4, MT-ND6
6nadh44 11 2410.6MT-ND3, MT-ND4, MT-ND6

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Hereditary Optic Neuropathy with Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet