LDYT
MCID: LBR020
MIFTS: 29

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

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Aliases & Descriptions for Leber Hereditary Optic Neuropathy with Dystonia:

Name: Leber Hereditary Optic Neuropathy with Dystonia 48 52 70
Leber Optic Atrophy and Dystonia 48 70 68
Leber's Hereditary Optic Neuropathy with Dystonia 48 27
Marsden Syndrome 48 70
 
Ldyt 48 70
Dystonia Familial, with Visual Failure and Striatal Lucencies 48
Familial Dystonia with Visual Failure and Striatal Lucencies 70
Lhon and Dystonia 48

Characteristics:

HPO:

64
leber hereditary optic neuropathy with dystonia:
Inheritance: mitochondrial inheritance

Classifications:



External Ids:

MedGen37 C1839040
MeSH39 D029242

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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NIH Rare Diseases:48 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 mental retardation with spastic paraplegia and uterine ligament serous adenocarcinoma, and has symptoms including athetosis, athetosis and dystonia. An important gene associated with Leber Hereditary Optic Neuropathy with Dystonia is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skeletal muscle and eye.

UniProtKB/Swiss-Prot:70 Leber hereditary optic neuropathy with dystonia: Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia.

Description from OMIM:52 500001

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 & Phenotypes for Leber Hereditary Optic Neuropathy with Dystonia

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Symptoms by clinical synopsis from OMIM:

500001

Clinical features from OMIM:

500001

Human phenotypes related to Leber Hereditary Optic Neuropathy with Dystonia:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 abnormality of eye movement64 HP:0000496
2 visual loss64 HP:0000572
3 optic atrophy64 HP:0000648
4 dementia64 HP:0000726
5 leber optic atrophy64 HP:0001112
6 intellectual disability64 HP:0001249
7 spasticity64 HP:0001257
8 dysarthria64 HP:0001260
9 dystonia64 HP:0001332
10 dysphagia64 HP:0002015
11 bradykinesia64 HP:0002067
12 increased serum lactate64 HP:0002151
13 athetosis64 HP:0002305
14 increased csf lactate64 HP:0002490
15 scoliosis64 HP:0002650
16 skeletal muscle atrophy64 HP:0003202
17 peripheral neuropathy64 HP:0009830

UMLS symptoms related to Leber Hereditary Optic Neuropathy with Dystonia:


athetosis, dystonia, muscle spasticity, bradykinesia, unspecified visual loss

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy with Dystonia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Leber Hereditary Optic Neuropathy with Dystonia

Genetic Tests for Leber Hereditary Optic Neuropathy with Dystonia

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Genetic tests related to Leber Hereditary Optic Neuropathy with Dystonia:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy with Dystonia27

Anatomical Context for Leber Hereditary Optic Neuropathy with Dystonia

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

36
Skeletal muscle, Eye

Publications for Leber Hereditary Optic Neuropathy with Dystonia

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Variations for Leber Hereditary Optic Neuropathy with Dystonia

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UniProtKB/Swiss-Prot genetic disease variations for Leber Hereditary Optic Neuropathy with Dystonia:

70
id Symbol AA change Variation ID SNP ID
1MT-ND4p.Val313IleVAR_008393rs200873900
2MT-ND6p.Ala72ValVAR_004764rs199476105
3MT-ND6p.Ile26MetVAR_008394rs387906424

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-ND6m.14459G> ASNVPathogenicrs199476105GRCh37Chr MT, 14459: 14459
2MT-ND6m.14596A> TSNVPathogenicrs387906424GRCh37Chr MT, 14596: 14596
3MT-ND4m.11696G> ASNVPathogenicrs200873900GRCh37Chr MT, 11696: 11696
4MT-ND3m.10197G> ASNVPathogenicrs267606891GRCh37Chr MT, 10197: 10197
5MT-ND1m.3697G> ASNVPathogenicrs199476122GRCh37Chr 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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GO Terms for genes affiliated with Leber Hereditary Optic Neuropathy with Dystonia

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Cellular components related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:00057479.2MT-ND1, MT-ND3, MT-ND4
2mitochondrionGO:00057399.0MT-ND1, MT-ND3, MT-ND4
3mitochondrial inner membraneGO:00057438.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
4mitochondrial membraneGO:00319668.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
5respiratory chainGO:00704698.0MT-ND1, MT-ND3, MT-ND4, MT-ND6

Biological processes related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to nicotineGO:00350949.3MT-ND4, MT-ND6
2mitochondrial electron transport, NADH to ubiquinoneGO:00061208.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
3mitochondrial respiratory chain complex I assemblyGO:00329818.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
4oxidation-reduction processGO:00551148.4MT-ND1, MT-ND3, MT-ND4, MT-ND6

Molecular functions related to Leber Hereditary Optic Neuropathy with Dystonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081378.7MT-ND1, MT-ND3, MT-ND4, MT-ND6
2oxidoreductase activityGO:00164918.0MT-ND1, MT-ND3, MT-ND4, MT-ND6

Sources for Leber Hereditary Optic Neuropathy with Dystonia

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2CDC
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10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
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34KEGG
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49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet