LDYT
MCID: LBR031
MIFTS: 39

Leber Optic Atrophy and Dystonia (LDYT)

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

Aliases & Classifications for Leber Optic Atrophy and Dystonia

MalaCards integrated aliases for Leber Optic Atrophy and Dystonia:

Name: Leber Optic Atrophy and Dystonia 57 12 20 72 29 6 70
Marsden Syndrome 57 12 20 72
Ldyt 57 12 20 72
Leber Hereditary Optic Neuropathy with Dystonia 57 20 72
Leber Hereditary Optic Neuropathy and Dystonia 12 36 15
Familial Dystonia with Visual Failure and Striatal Lucencies 12 72
Dystonia, Familial, with Visual Failure and Striatal Lucencies 57
Dystonia Familial, with Visual Failure and Striatal Lucencies 20
Leber Hereditary Optic Neuropathy with Dystonia; Ldyt 57
Leber's Hereditary Optic Neuropathy with Dystonia 20
Leber Optic Atrophy with Dystonia 12
Lhon and Dystonia 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
leber optic atrophy and dystonia:
Inheritance mitochondrial inheritance


Classifications:



Summaries for Leber Optic Atrophy and Dystonia

GARD : 20 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.

MalaCards based summary : Leber Optic Atrophy and Dystonia, also known as marsden syndrome, is related to hereditary optic neuropathy and neuropathy, and has symptoms including dystonia, athetosis and bradykinesia. An important gene associated with Leber Optic Atrophy and Dystonia is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Oxidative phosphorylation and Prion disease. Affiliated tissues include eye, skeletal muscle and pancreas, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has material basis in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.

KEGG : 36 Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 500001

Related Diseases for Leber Optic Atrophy and Dystonia

Diseases related to Leber Optic Atrophy and Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 hereditary optic neuropathy 30.9 MT-ND6 MT-ND4 MT-ND1
2 neuropathy 30.6 MT-ND6 MT-ND4 MT-ND3 MT-ND1
3 leigh syndrome 30.6 MT-ND6 MT-ND4 MT-ND3 MT-ND1
4 lactic acidosis 30.4 MT-ND6 MT-ND4 MT-ND1
5 3-methylglutaconic aciduria, type iii 30.2 MT-ND6 MT-ND4 MT-ND1
6 mitochondrial encephalomyopathy 30.2 MT-ND6 MT-ND4 MT-ND3 MT-ND1
7 optic nerve disease 30.1 MT-ND6 MT-ND4 MT-ND3 MT-ND1 LINGO1
8 leber hereditary optic neuropathy, modifier of 30.0 MT-ND6 MT-ND4 MT-ND3 MT-ND1 CHM
9 dystonia 29.4 SGCE PLA2G6 MT-ND6 MT-ND4 MT-ND3 MT-ND1
10 leber plus disease 27.7 SGCE PLA2G6 MT-ND6 MT-ND4 MT-ND3 MT-ND1
11 toxic optic neuropathy 10.2 MT-ND6 MT-ND4
12 mitochondrial complex i deficiency, mitochondrial type 1 10.2
13 stroke, ischemic 10.2
14 hereditary dystonia 10.2
15 optic atrophy 4 10.2 MT-ND6 MT-ND4
16 drug-induced hearing loss 10.2 MT-ND6 MT-ND4
17 optic atrophy 7 with or without auditory neuropathy 10.2 MT-ND6 MT-ND4
18 coenurosis 10.2 MT-ND4 MT-ND1
19 diphyllobothriasis 10.2 MT-ND3 MT-ND1
20 pearson marrow-pancreas syndrome 10.2 MT-ND6 MT-ND4
21 neuropathy, ataxia, and retinitis pigmentosa 10.2 MT-ND6 MT-ND4
22 optic atrophy 5 10.2 MT-ND6 MT-ND4
23 baylisascariasis 10.2 MT-ND4 MT-ND1
24 deafness, nonsyndromic sensorineural, mitochondrial 10.2 MT-ND4 MT-ND1
25 scotoma 10.2 MT-ND6 MT-ND4
26 dicrocoeliasis 10.2 MT-ND3 MT-ND1
27 pthirus pubis infestation 10.1 MT-ND4 MT-ND1
28 lice infestation 10.1 MT-ND4 MT-ND1
29 hereditary lymphedema ii 10.1 SGCE DYTN
30 lymphatic malformation 5 10.1 SGCE DYTN
31 parasitic ectoparasitic infectious disease 10.1 MT-ND4 MT-ND1
32 deafness, aminoglycoside-induced 10.1 MT-ND6 MT-ND4 MT-ND1
33 thelaziasis 10.1 MT-ND6 MT-ND3 MT-ND1
34 cortical blindness 10.1 MT-ND6 MT-ND4 MT-ND1
35 myoclonic epilepsy associated with ragged-red fibers 10.1 MT-ND6 MT-ND4 MT-ND1
36 sparganosis 10.0 MT-ND4 MT-ND3 MT-ND1
37 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.0 MT-ND6 MT-ND4 MT-ND1
38 hemidystonia 10.0 SGCE GCH1
39 spasmodic dystonia 10.0 SGCE GCH1
40 multifocal dystonia 10.0 SGCE GCH1
41 focal dystonia 10.0 SGCE GCH1
42 optic neuritis 10.0 MT-ND6 MT-ND4
43 segmental dystonia 10.0 SGCE GCH1
44 dystonia 3, torsion, x-linked 10.0 SGCE GCH1
45 dystonia, dopa-responsive 10.0 SGCE GCH1
46 blepharospasm 10.0 SGCE GCH1
47 cervical dystonia 9.9 SGCE GCH1
48 mitochondrial dna-associated leigh syndrome 9.9 MT-ND6 MT-ND4 MT-ND3 MT-ND1
49 mitochondrial dna-associated leigh syndrome and narp 9.9 MT-ND6 MT-ND4 MT-ND3 MT-ND1
50 mitochondrial metabolism disease 9.9 MT-ND6 MT-ND4 MT-ND3 MT-ND1

Graphical network of the top 20 diseases related to Leber Optic Atrophy and Dystonia:



Diseases related to Leber Optic Atrophy and Dystonia

Symptoms & Phenotypes for Leber Optic Atrophy and Dystonia

Human phenotypes related to Leber Optic Atrophy and Dystonia:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 scoliosis 31 HP:0002650
4 abnormality of eye movement 31 HP:0000496
5 dysarthria 31 HP:0001260
6 dysphagia 31 HP:0002015
7 optic atrophy 31 HP:0000648
8 skeletal muscle atrophy 31 HP:0003202
9 increased serum lactate 31 HP:0002151
10 dystonia 31 HP:0001332
11 peripheral neuropathy 31 HP:0009830
12 increased csf lactate 31 HP:0002490
13 athetosis 31 HP:0002305
14 dementia 31 HP:0000726
15 visual loss 31 HP:0000572
16 bradykinesia 31 HP:0002067
17 leber optic atrophy 31 HP:0001112

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
dysphagia
dystonia
athetosis
more
Head And Neck Eyes:
optic atrophy
loss of vision
abnormal extraocular movements

Laboratory Abnormalities:
increased serum and csf lactate
decreased mitochondrial complex i activity

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
amyotrophy

Clinical features from OMIM®:

500001 (Updated 20-May-2021)

UMLS symptoms related to Leber Optic Atrophy and Dystonia:


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

Drugs & Therapeutics for Leber Optic Atrophy and Dystonia

Search Clinical Trials , NIH Clinical Center for Leber Optic Atrophy and Dystonia

Genetic Tests for Leber Optic Atrophy and Dystonia

Genetic tests related to Leber Optic Atrophy and Dystonia:

# Genetic test Affiliating Genes
1 Leber Optic Atrophy and Dystonia 29

Anatomical Context for Leber Optic Atrophy and Dystonia

MalaCards organs/tissues related to Leber Optic Atrophy and Dystonia:

40
Eye, Skeletal Muscle, Pancreas

Publications for Leber Optic Atrophy and Dystonia

Articles related to Leber Optic Atrophy and Dystonia:

(show all 17)
# Title Authors PMID Year
1
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 6 57 61
19458970 2009
2
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 57 6
17562939 2007
3
Leber's hereditary optic neuropathy with dystonia in a Japanese family. 57 6
16380132 2006
4
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 57 6
8644732 1996
5
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 6 57
8016139 1994
6
A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. 6
17413873 2007
7
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 6
17152068 2007
8
Mutations of the mitochondrial ND1 gene as a cause of MELAS. 6
15466014 2004
9
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. 6
14735585 2004
10
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 6
12707444 2003
11
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. 6
10894222 2000
12
Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. 6
7654063 1995
13
Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. 6
1469456 1992
14
Leber's disease and dystonia: a mitochondrial disease. 57
3736869 1986
15
Familial dystonia and visual failure with striatal CT lucencies. 57
3711913 1986
16
Familial holotopistic striatal necrosis. 57
5805975 1969
17
Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation. 61
33779865 2021

Variations for Leber Optic Atrophy and Dystonia

ClinVar genetic disease variations for Leber Optic Atrophy and Dystonia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND3 m.10197G>A SNV Pathogenic 9715 rs267606891 GRCh37: MT:10197-10197
GRCh38: MT:10197-10197
2 MT-ND1 m.3697G>A SNV Pathogenic 9733 rs199476122 GRCh37: MT:3697-3697
GRCh38: MT:3697-3697
3 MT-ND4 m.11696G>A SNV Pathogenic 9710 rs200873900 GRCh37: MT:11696-11696
GRCh38: MT:11696-11696
4 MT-ND6 m.14596A>T SNV Pathogenic 9690 rs387906424 GRCh37: MT:14596-14596
GRCh38: MT:14596-14596
5 MT-ND6 m.14459G>A SNV Pathogenic 9689 rs199476105 GRCh37: MT:14459-14459
GRCh38: MT:14459-14459

UniProtKB/Swiss-Prot genetic disease variations for Leber Optic Atrophy and Dystonia:

72
# 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

Expression for Leber Optic Atrophy and Dystonia

Search GEO for disease gene expression data for Leber Optic Atrophy and Dystonia.

Pathways for Leber Optic Atrophy and Dystonia

Pathways related to Leber Optic Atrophy and Dystonia according to KEGG:

36
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

Pathways related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 MT-ND6 MT-ND4 MT-ND3 MT-ND1
2
Show member pathways
11.44 MT-ND6 MT-ND4 MT-ND3 MT-ND1

GO Terms for Leber Optic Atrophy and Dystonia

Cellular components related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 PLA2G6 MT-ND6 MT-ND4 MT-ND3 MT-ND1
2 mitochondrial inner membrane GO:0005743 9.56 MT-ND6 MT-ND4 MT-ND3 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND4 MT-ND3 MT-ND1
4 mitochondrial membrane GO:0031966 9.26 MT-ND6 MT-ND4 MT-ND3 MT-ND1
5 respiratory chain GO:0070469 8.92 MT-ND6 MT-ND4 MT-ND3 MT-ND1

Biological processes related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.62 MT-ND6 MT-ND4 MT-ND3 MT-ND1
2 response to nicotine GO:0035094 9.26 MT-ND6 MT-ND4
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND6 MT-ND4 MT-ND3 MT-ND1
4 aerobic respiration GO:0009060 9.16 MT-ND4 MT-ND1
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND6 MT-ND4 MT-ND3 MT-ND1

Molecular functions related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 8.96 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND6 MT-ND4 MT-ND3 MT-ND1

Sources for Leber Optic Atrophy and Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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