LDYT
MCID: LBR020
MIFTS: 15

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

Eye, Neuronal, Genetic categories

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

Sources:
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 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:47 500001

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

Sources:
43NIH Rare Diseases, 47OMIM, 61UMLS
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Classifications:

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


Aliases & Descriptions:

leber hereditary optic neuropathy with dystonia 43 47
leber optic atrophy and dystonia 43 61
dystonia familial, with visual failure and striatal lucencies 43
leber's hereditary optic neuropathy with dystonia 43
optic atrophy, hereditary, leber 61
lhon and dystonia 43
ldyt 43


Related Diseases for Leber Hereditary Optic Neuropathy with Dystonia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the leber hereditary optic neuropathy family:

leber hereditary optic neuropathy with dystonia

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 neuropathy30.4MT-ND4, MT-ND6
2marsden nyhan sakati syndrome10.4
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

Sources:
47OMIM
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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, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Leber Hereditary Optic Neuropathy with Dystonia

Anatomical Context for Leber Hereditary Optic Neuropathy with Dystonia

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

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28inGenious Targeting Laboratory
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Publications for Leber Hereditary Optic Neuropathy with Dystonia

Genetic Variations for Leber Hereditary Optic Neuropathy with Dystonia

Expression for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

Sources:
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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

idCompoundScoreTop Affiliating Genes
1isoleucine459.0MT-ND6, MT-ND4
2iron45 2410.0MT-ND6, MT-ND4
3valine458.9MT-ND6, MT-ND4
4pyruvate458.8MT-ND4, MT-ND3
5nad29 249.6MT-ND6, MT-ND4, MT-ND3
6nadh45 11 2410.6MT-ND3, MT-ND4, MT-ND6

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

Products for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Hereditary Optic Neuropathy with Dystonia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet