LDYT
MCID: LBR020
MIFTS: 29

Leber Hereditary Optic Neuropathy with Dystonia (LDYT) malady

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

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

Aliases & Descriptions for Leber Hereditary Optic Neuropathy with Dystonia:

Name: Leber Hereditary Optic Neuropathy with Dystonia 50 54 66
Leber Optic Atrophy and Dystonia 50 66 69
Leber's Hereditary Optic Neuropathy with Dystonia 50 29
Marsden Syndrome 50 66
Ldyt 50 66
Dystonia Familial, with Visual Failure and Striatal Lucencies 50
Familial Dystonia with Visual Failure and Striatal Lucencies 66
Lhon and Dystonia 50

Characteristics:

HPO:

32
leber hereditary optic neuropathy with dystonia:
Inheritance mitochondrial inheritance


Classifications:



External Ids:

MedGen 40 C1839040
MeSH 42 D029242

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

NIH Rare Diseases : 50 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, dystonia and bradykinesia. 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/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include eye and skeletal muscle.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Leber Hereditary Optic Neuropathy with Dystonia

Graphical network of the top 20 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

Symptoms by clinical synopsis from OMIM:

500001

Clinical features from OMIM:

500001

Human phenotypes related to Leber Hereditary Optic Neuropathy with Dystonia:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 athetosis 32 HP:0002305
2 dystonia 32 HP:0001332
3 bradykinesia 32 HP:0002067
4 abnormality of eye movement 32 HP:0000496
5 intellectual disability 32 HP:0001249
6 spasticity 32 HP:0001257
7 dysarthria 32 HP:0001260
8 dysphagia 32 HP:0002015
9 scoliosis 32 HP:0002650
10 optic atrophy 32 HP:0000648
11 skeletal muscle atrophy 32 HP:0003202
12 peripheral neuropathy 32 HP:0009830
13 increased serum lactate 32 HP:0002151
14 visual loss 32 HP:0000572
15 dementia 32 HP:0000726
16 increased csf lactate 32 HP:0002490
17 leber optic atrophy 32 HP:0001112

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

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

Genetic Tests for Leber Hereditary Optic Neuropathy with Dystonia

Genetic tests related to Leber Hereditary Optic Neuropathy with Dystonia:

id Genetic test Affiliating Genes
1 Leber Hereditary Optic Neuropathy with Dystonia 29

Anatomical Context for Leber Hereditary Optic Neuropathy with Dystonia

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

39
Eye, Skeletal Muscle

Publications for Leber Hereditary Optic Neuropathy with Dystonia

Variations for Leber Hereditary Optic Neuropathy with Dystonia

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

66
id Symbol AA change Variation ID SNP ID
1 MT-ND4 p.Val313Ile VAR_008393 rs200873900
2 MT-ND6 p.Ala72Val VAR_004764 rs199476105
3 MT-ND6 p.Ile26Met VAR_008394 rs387906424

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-ND6 m.14459G> A single nucleotide variant Pathogenic rs199476105 GRCh37 Chromosome MT, 14459: 14459
2 MT-ND6 m.14596A> T single nucleotide variant Pathogenic rs387906424 GRCh37 Chromosome MT, 14596: 14596
3 MT-ND4 m.11696G> A single nucleotide variant Pathogenic rs200873900 GRCh37 Chromosome MT, 11696: 11696
4 MT-ND3 m.10197G> A single nucleotide variant Pathogenic rs267606891 GRCh37 Chromosome MT, 10197: 10197
5 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697

Expression for Leber Hereditary Optic Neuropathy with Dystonia

Search GEO for disease gene expression data for Leber Hereditary Optic Neuropathy with Dystonia.

Pathways for Leber Hereditary Optic Neuropathy with Dystonia

GO Terms for Leber Hereditary Optic Neuropathy with Dystonia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 mitochondrion GO:0005739 9.5 MT-ND1 MT-ND3 MT-ND4
3 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND1 MT-ND3 MT-ND4
4 mitochondrial membrane GO:0031966 9.26 MT-ND1 MT-ND3 MT-ND4 MT-ND6
5 respiratory chain GO:0070469 8.92 MT-ND1 MT-ND3 MT-ND4 MT-ND6

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.46 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 response to nicotine GO:0035094 9.26 MT-ND4 MT-ND6
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND1 MT-ND3 MT-ND4 MT-ND6
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND1 MT-ND3 MT-ND4 MT-ND6

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND3 MT-ND4 MT-ND6

Sources for Leber Hereditary Optic Neuropathy with Dystonia

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16 ExPASy
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