MCID: LBR020
MIFTS: 32

Leber Hereditary Optic Neuropathy with Dystonia

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

Aliases & Classifications for Leber Hereditary Optic Neuropathy with Dystonia

MalaCards integrated aliases for Leber Hereditary Optic Neuropathy with Dystonia:

Name: Leber Hereditary Optic Neuropathy with Dystonia 50 54 71 29
Leber Optic Atrophy and Dystonia 50 71 69
Marsden Syndrome 50 71
Ldyt 50 71
Dystonia Familial, with Visual Failure and Striatal Lucencies 50
Familial Dystonia with Visual Failure and Striatal Lucencies 71
Leber's Hereditary Optic Neuropathy with Dystonia 50
Lhon and Dystonia 50

Characteristics:

OMIM:

54
Inheritance:
mitochondrial

Miscellaneous:
onset of dystonia is in childhood
onset of optic neuropathy is usually in early adulthood
patients may show both optic neuropathy and dystonia or only 1 disorder
considered part of a spectrum of leber hereditary optic atrophy (lhon, )


HPO:

32
leber hereditary optic neuropathy with dystonia:
Inheritance mitochondrial inheritance


Classifications:



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 behr syndrome and scrapie, 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: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 skeletal muscle and eye.

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis

Head And Neck- Eyes:
optic atrophy
abnormal extraocular movements
loss of vision

Muscle Soft Tissue:
amyotrophy

Neurologic- Central Nervous System:
mental retardation
dysphagia
dystonia
dysarthria
spasticity
more
Laboratory- Abnormalities:
increased serum and csf lactate
decreased mitochondrial complex i activity


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

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
Skeletal Muscle, Eye

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:

71
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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