LDYT
MCID: LBR020
MIFTS: 27

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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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 based summary: Leber Hereditary Optic Neuropathy with Dystonia, also known as leber optic atrophy and dystonia, is related to marsden nyhan sakati syndrome and melas syndrome, and has symptoms including abnormality of eye movement, visual loss and optic atrophy. 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 rotenone and isoleucine 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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Leber Hereditary Optic Neuropathy with Dystonia, Aliases & Descriptions:

Name: Leber Hereditary Optic Neuropathy with Dystonia 42 46 61
Leber Optic Atrophy and Dystonia 42 61
Marsden Syndrome 42 61
Dystonia Familial, with Visual Failure and Striatal Lucencies 42
 
Leber's Hereditary Optic Neuropathy with Dystonia 42
Optic Atrophy, Hereditary, Leber 61
Lhon and Dystonia 42
Ldyt 42


Classifications:

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


Related Diseases for Leber Hereditary Optic Neuropathy with Dystonia

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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
2melas syndrome10.3MT-ND6
3lactic acidosis10.0MT-ND1, MT-ND4
4optic nerve disease9.9MT-ND6, MT-ND4
5leber hereditary optic neuropathy9.8MT-ND4, MT-ND1, MT-ND6
6mitochondrial complex i deficiency9.8MT-ND3, MT-ND6
7mitochondrial disorders9.7MT-ND6, MT-ND1, MT-ND4
8leigh disease9.6MT-ND3, MT-ND6, MT-ND4
9mitochondrial dna-associated leigh syndrome and narp9.5MT-ND3, MT-ND6, MT-ND1, 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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Symptoms by clinical synopsis from OMIM:

500001

Clinical features from OMIM:

500001

HPO human phenotypes related to Leber Hereditary Optic Neuropathy with Dystonia:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of eye movement HP:0000496
2 visual loss HP:0000572
3 optic atrophy HP:0000648
4 dementia HP:0000726
5 leber optic atrophy HP:0001112
6 intellectual disability HP:0001249
7 spasticity HP:0001257
8 dysarthria HP:0001260
9 dystonia HP:0001332
10 mitochondrial inheritance HP:0001427
11 dysphagia HP:0002015
12 bradykinesia HP:0002067
13 increased serum lactate HP:0002151
14 athetosis HP:0002305
15 increased csf lactate HP:0002490
16 corticospinal tract dysfunction HP:0002493
17 scoliosis HP:0002650
18 amyotrophy HP:0003202
19 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy with Dystonia

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Drug clinical trials:

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Search NIH Clinical Center for Leber Hereditary Optic Neuropathy with Dystonia

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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Clinvar genetic disease variations for Leber Hereditary Optic Neuropathy with Dystonia:

7
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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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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Compounds for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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Sources:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank
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Compounds related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1rotenone449.6MT-ND6, MT-ND1
2isoleucine449.5MT-ND6, MT-ND4
3methionine449.3MT-ND6, MT-ND1
4lactate449.3MT-ND1, MT-ND4
5Sulfide259.1MT-ND6, MT-ND1, MT-ND4
6QH2259.1MT-ND4, MT-ND1, MT-ND6
7Ubiquinone Q2259.1MT-ND6, MT-ND1, MT-ND4
8FAD259.1MT-ND6, MT-ND1, MT-ND4
9valine449.0MT-ND4, MT-ND1, MT-ND6
10iron44 2510.0MT-ND4, MT-ND1, MT-ND6
11proline448.8MT-ND3, MT-ND1
12pyruvate448.7MT-ND3, MT-ND1, MT-ND4
13alanine448.7MT-ND3, MT-ND6, MT-ND1
14threonine448.6MT-ND4, MT-ND1, MT-ND3
15serine448.6MT-ND1, MT-ND6, MT-ND3
16Ubiquinol 8258.3MT-ND3, MT-ND6, MT-ND1, MT-ND4
17Ubiquinone Q1258.3MT-ND4, MT-ND1, MT-ND6, MT-ND3
18nad29 259.3MT-ND3, MT-ND6, MT-ND1, MT-ND4
19nadh44 25 1210.3MT-ND4, MT-ND1, MT-ND6, MT-ND3

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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet