MCID: LBR020
MIFTS: 24

Leber Hereditary Optic Neuropathy with Dystonia 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:41 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 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and lactic acidosis, 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. Affiliated tissues include eye.

Description from OMIM:45 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 41 45
Leber Optic Atrophy and Dystonia 41 60
Dystonia Familial, with Visual Failure and Striatal Lucencies 41
Leber's Hereditary Optic Neuropathy with Dystonia 41
 
Lhon and Dystonia 41
Marsden Syndrome 41
Ldyt 41


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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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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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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MalaCards organs/tissues related to Leber Hereditary Optic Neuropathy with Dystonia:

31
Eye

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:

6
id Gene Variation 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:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
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Compounds related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1rotenone439.6MT-ND6, MT-ND1
2isoleucine439.5MT-ND6, MT-ND4
3methionine439.3MT-ND6, MT-ND1
4lactate439.3MT-ND1, MT-ND4
5Sulfide249.1MT-ND6, MT-ND1, MT-ND4
6QH2249.1MT-ND4, MT-ND1, MT-ND6
7Ubiquinone Q2249.1MT-ND6, MT-ND1, MT-ND4
8FAD249.1MT-ND6, MT-ND1, MT-ND4
9valine439.0MT-ND4, MT-ND1, MT-ND6
10iron43 2410.0MT-ND4, MT-ND1, MT-ND6
11proline438.8MT-ND3, MT-ND1
12pyruvate438.7MT-ND3, MT-ND1, MT-ND4
13alanine438.7MT-ND3, MT-ND6, MT-ND1
14threonine438.6MT-ND4, MT-ND1, MT-ND3
15serine438.6MT-ND1, MT-ND6, MT-ND3
16Ubiquinol 8248.3MT-ND3, MT-ND6, MT-ND1, MT-ND4
17Ubiquinone Q1248.3MT-ND4, MT-ND1, MT-ND6, MT-ND3
18nad28 249.3MT-ND3, MT-ND6, MT-ND1, MT-ND4
19nadh43 24 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet