Leber Optic Atrophy and Dystonia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Optic Atrophy and Dystonia

MalaCards integrated aliases for Leber Optic Atrophy and Dystonia:

Name: Leber Optic Atrophy and Dystonia ⁵⁷ ¹¹ ¹⁹ ⁷³ ²⁸ ⁵ ⁷¹

Marsden Syndrome ⁵⁷ ¹¹ ¹⁹ ⁷³

Ldyt ⁵⁷ ¹¹ ¹⁹ ⁷³

Leber Hereditary Optic Neuropathy with Dystonia ⁵⁷ ¹⁹ ⁷³

Familial Dystonia with Visual Failure and Striatal Lucencies ¹¹ ⁷³

Leber Hereditary Optic Neuropathy and Dystonia ¹¹ ¹⁴

Dystonia, Familial, with Visual Failure and Striatal Lucencies ⁵⁷

Dystonia Familial, with Visual Failure and Striatal Lucencies ¹⁹

Leber's Hereditary Optic Neuropathy with Dystonia ¹⁹

Leber Optic Atrophy with Dystonia ¹¹

Lhon and Dystonia ¹⁹

Characteristics:

Inheritance:

Mitochondrial ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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, )

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

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Summaries for Leber Optic Atrophy and Dystonia

GARD: ¹⁹ Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia. Dystonia involves involuntary muscle contractions, tremors, and other uncontrolled movements. It is caused by genetic changes 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skeletal muscle and eye, and related phenotypes are intellectual disability and spasticity

UniProtKB/Swiss-Prot: ⁷³ A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia.

Disease Ontology: ¹¹ 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.

More information from OMIM: 500001

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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 78)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary optic neuropathy	30.9	MT-ND6 MT-ND5 MT-ND4 MT-ND3
2	neuropathy	30.7	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1
3	optic nerve disease	30.3	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 LINGO1
4	dystonia 12	30.3	THAP1 SGCE GCH1
5	lactic acidosis	30.2	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1
6	mitochondrial disease	30.2	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1
7	mitochondrial encephalomyopathy	30.2	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1
8	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	30.0	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 ADI1
9	leber hereditary optic neuropathy, modifier of	30.0	MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 CHM
10	dystonia	29.8	THAP1 SGCE PLA2G6 MT-ND6 MT-ND4 MT-ND3
11	leigh syndrome	29.7	NDUFC1 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1
12	leber plus disease	28.1	THAP1 SGCE PLA2G6 MT-ND6 MT-ND5 MT-ND4
13	toxascariasis	10.3	MT-ND4 MT-ND1
14	3-methylglutaconic aciduria, type iii	10.3
15	mitochondrial complex i deficiency, mitochondrial type 1	10.3
16	hereditary dystonia	10.3
17	fasciolopsiasis	10.2	MT-ND6 MT-ND1
18	congenital nystagmus 1	10.2	MT-ND6 MT-ND1
19	nutritional optic neuropathy	10.2	MT-ND6 MT-ND4
20	toxic optic neuropathy	10.2	MT-ND6 MT-ND4
21	severe congenital neutropenia 1	10.2	MT-ND5 MT-ND1
22	progressive myoclonus epilepsy 9	10.2	MT-ND5 MT-ND3
23	optic atrophy 7 with or without auditory neuropathy	10.2	MT-ND6 MT-ND4
24	deafness, nonsyndromic sensorineural, mitochondrial	10.2	MT-ND4 MT-ND1
25	mitochondrial myopathy, infantile, transient	10.2	MT-ND5 MT-ND1
26	parkinson disease 6, autosomal recessive early-onset	10.2	MT-ND6 MT-ND5
27	myiasis	10.2	MT-ND5 MT-ND1
28	parathyroid oncocytic adenoma	10.2	MT-ND6 MT-ND3 MT-ND1
29	scotoma	10.1	MT-ND6 MT-ND4 MT-ND1
30	neuropathy, ataxia, and retinitis pigmentosa	10.1	MT-ND6 MT-ND4
31	taeniasis	10.1	MT-ND5 MT-ND1
32	coenurosis	10.1	MT-ND5 MT-ND4 MT-ND1
33	diphyllobothriasis	10.1	MT-ND5 MT-ND3 MT-ND1
34	dicrocoeliasis	10.1	MT-ND5 MT-ND3 MT-ND1
35	deafness, aminoglycoside-induced	10.1	MT-ND6 MT-ND4
36	cystic echinococcosis	10.1	MT-ND5 MT-ND1
37	hyperphenylalaninemia, bh4-deficient, b	10.1	SGCE GCH1
38	hereditary lymphedema ii	10.1	THAP1 SGCE
39	mitochondrial dna depletion syndrome 4a	10.1	MT-ND5 MT-ND4 MT-ND1
40	conversion disorder	10.1	THAP1 SGCE
41	mitochondrial complex i deficiency, nuclear type 16	10.1	MT-ND6 MT-ND4 MT-ND3 MT-ND1
42	pearson marrow-pancreas syndrome	10.0	MT-ND6 MT-ND4 MT-ND3 MT-ND1
43	chronic progressive external ophthalmoplegia	10.0	MT-ND6 MT-ND4 MT-ND3 MT-ND1
44	lymphatic malformation 5	10.0	THAP1 SGCE
45	cysticercosis	10.0	MT-ND5 MT-ND1
46	ancylostomiasis	10.0	MT-ND5 MT-ND4 MT-ND3 MT-ND1
47	sparganosis	10.0	MT-ND5 MT-ND4 MT-ND3 MT-ND1
48	cortical blindness	10.0	MT-ND6 MT-ND5 MT-ND4 MT-ND1
49	mitochondrial dna depletion syndrome	10.0	MT-ND6 MT-ND5 MT-ND4 MT-ND1
50	focal dystonia	10.0	THAP1 SGCE GCH1

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

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Symptoms & Phenotypes for Leber Optic Atrophy and Dystonia

Human phenotypes related to Leber Optic Atrophy and Dystonia:

³⁰ (show all 17)

#	Description	HPO Source Accession
1	intellectual disability ³⁰	HP:0001249
2	spasticity ³⁰	HP:0001257
3	scoliosis ³⁰	HP:0002650
4	abnormality of eye movement ³⁰	HP:0000496
5	dysarthria ³⁰	HP:0001260
6	dysphagia ³⁰	HP:0002015
7	optic atrophy ³⁰	HP:0000648
8	skeletal muscle atrophy ³⁰	HP:0003202
9	increased serum lactate ³⁰	HP:0002151
10	dystonia ³⁰	HP:0001332
11	peripheral neuropathy ³⁰	HP:0009830
12	increased csf lactate ³⁰	HP:0002490
13	athetosis ³⁰	HP:0002305
14	dementia ³⁰	HP:0000726
15	visual loss ³⁰	HP:0000572
16	bradykinesia ³⁰	HP:0002067
17	leber optic atrophy ³⁰	HP:0001112

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

UMLS symptoms related to Leber Optic Atrophy and Dystonia:

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

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Drugs & Therapeutics for Leber Optic Atrophy and Dystonia

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

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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 ²⁸

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Anatomical Context for Leber Optic Atrophy and Dystonia

Organs/tissues related to Leber Optic Atrophy and Dystonia:

MalaCards : Skeletal Muscle, Eye

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Publications for Leber Optic Atrophy and Dystonia

Articles related to Leber Optic Atrophy and Dystonia:

(show all 20)

#	Title	Authors	PMID	Year
1	Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. ⁶² ⁵⁷ ⁵	Wang K...Tsuji S	19458970	2009
2	A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. ⁶² ⁵⁷ ⁵	Spruijt L...Hintzen RQ	17562939	2007
3	Leber's hereditary optic neuropathy with dystonia in a Japanese family. ⁶² ⁵⁷ ⁵	Watanabe M...Imamura S	16380132	2006
4	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. ⁶² ⁵⁷ ⁵	Jun AS...Wallace DC	8016139	1994
5	Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. ⁵⁷ ⁵	De Vries DD...van Oost BA	8644732	1996
6	A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. ⁵	Chae JH...Hirano M	17413873	2007
7	A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. ⁵	Sarzi E...Procaccio V	17152068	2007
8	Mutations of the mitochondrial ND1 gene as a cause of MELAS. ⁵	Kirby DM...Taylor RW	15466014	2004
9	Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. ⁵	Gropman A...Wong LJ	14735585	2004
10	Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. ⁵	Deschauer M...Taylor RW	12707444	2003
11	Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. ⁵	Kirby DM...Thorburn DR	10894222	2000
12	Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. ⁵	Shoffner JM...Graham JR	7654063	1995
13	Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. ⁵	Bruyn GW...Klinkhamer PJ	1469456	1992
14	Leber's disease and dystonia: a mitochondrial disease. ⁵⁷	Novotny EJ...Steinman L	3736869	1986
15	Familial dystonia and visual failure with striatal CT lucencies. ⁵⁷	Marsden CD...Nimri S	3711913	1986
16	Dementia of the Alzheimer's type and Huntington's disease. ⁵⁷	Reyes MG...Gibbons S	3155827	1985
17	Familial holotopistic striatal necrosis. ⁵⁷	Miyoshi K...Mizushima S	5805975	1969
18	Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation. ⁶²	Yu X...Yan C	33779865	2021
19	The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia. ⁶²	Leng Y...Wang Z	24708134	2015
20	Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. ⁶²	Jun AS...Wallace DC	8622678	1996

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Genes for Leber Optic Atrophy and Dystonia

Genes related to Leber Optic Atrophy and Dystonia (4 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	707.17	Pathogenic ⁵ Causative variation ⁷³ DISEASES inferred ¹⁴	7654063 8016139 8644732 (more) 10894222 14735585 16380132
2	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	705.67	Pathogenic ⁵ Causative variation ⁷³ DISEASES inferred ¹⁴	1469456 12707444
3	MT-ND3	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3	Protein Coding	406.88	Pathogenic ⁵ DISEASES inferred ¹⁴	17152068 17413873 19458970
4	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	406.39	Pathogenic ⁵ DISEASES inferred ¹⁴	15466014 17562939
5	SGCE	Sarcoglycan Epsilon	Protein Coding	5.68	DISEASES inferred ¹⁴
6	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	5.64	DISEASES inferred ¹⁴
7	DYTN	Dystrotelin	Protein Coding	5.55	DISEASES inferred ¹⁴
8	ADI1	Acireductone Dioxygenase 1	Protein Coding	5.4	DISEASES inferred ¹⁴
9	GCH1	GTP Cyclohydrolase 1	Protein Coding	5.31	DISEASES inferred ¹⁴
10	PLA2G6	Phospholipase A2 Group VI	Protein Coding	5.18	DISEASES inferred ¹⁴
11	THAP1	THAP Domain Containing 1	Protein Coding	5.11	DISEASES inferred ¹⁴
12	LINGO1	Leucine Rich Repeat And Ig Domain Containing 1	Protein Coding	5.01	DISEASES inferred ¹⁴
13	CHM	CHM Rab Escort Protein	Protein Coding	4.98	DISEASES inferred ¹⁴
14	NDUFC1	NADH:Ubiquinone Oxidoreductase Subunit C1	Protein Coding	4.8	DISEASES inferred ¹⁴
15	NDUFB1	NADH:Ubiquinone Oxidoreductase Subunit B1	Protein Coding	4.67	DISEASES inferred ¹⁴

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Variations for Leber Optic Atrophy and Dystonia

ClinVar genetic disease variations for Leber Optic Atrophy and Dystonia:

⁵

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

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

⁷³

#	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

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Expression for Leber Optic Atrophy and Dystonia

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

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Pathways for Leber Optic Atrophy and Dystonia

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.31	PLA2G6 NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Electron transport chain: OXPHOS system in mitochondria ⁷⁴ Mitochondrial Uncoupling ⁶⁶ Oleoyl-phe metabolism ⁶⁶ Oxidative phosphorylation ⁷⁴ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶	12.26	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
3	Complex I biogenesis ⁶⁶ Show member pathways Mitochondrial complex I assembly model OXPHOS system ⁷⁴	11.22	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3

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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	membrane	GO:0016020	10.37	SGCE PLA2G6 NDUFC1 NDUFB1 MT-ND6 MT-ND5
2	membrane	GO:0016021	10.37	SGCE PLA2G6 NDUFC1 NDUFB1 MT-ND6 MT-ND5
3	mitochondrion	GO:0005739	10.06	PLA2G6 NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4
4	mitochondrial inner membrane	GO:0005743	10	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
5	mitochondrial respiratory chain complex I	GO:0005747	9.8	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
6	mitochondrial membrane	GO:0031966	9.65	MT-ND1 MT-ND3 MT-ND4 MT-ND6
7	respirasome	GO:0070469	9.17	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex I assembly	GO:0032981	10.03	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
2	aerobic respiration	GO:0009060	10	MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFB1
3	proton motive force-driven mitochondrial ATP synthesis	GO:0042776	9.8	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
4	electron transport coupled proton transport	GO:0015990	9.62	MT-ND5 MT-ND4
5	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	9.47	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
6	ATP synthesis coupled electron transport	GO:0042773	9.37	MT-ND5 MT-ND4

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 (ubiquinone) activity	GO:0008137	9.47	NDUFC1 NDUFB1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
2	NADH dehydrogenase activity	GO:0003954	9.43	MT-ND5 MT-ND4 MT-ND1

Sources

Sources for Leber Optic Atrophy and Dystonia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LDYT MCID: LBR031 MIFTS: 40	Leber Optic Atrophy and Dystonia (LDYT) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Optic Atrophy and Dystonia (LDYT)

Aliases & Classifications for Leber Optic Atrophy and Dystonia

MalaCards integrated aliases for Leber Optic Atrophy and Dystonia:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leber Optic Atrophy and Dystonia

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leber Optic Atrophy and Dystonia:

Drugs & Therapeutics for Leber Optic Atrophy and Dystonia

Genetic Tests for Leber Optic Atrophy and Dystonia

Genetic tests related to Leber Optic Atrophy and Dystonia:

Anatomical Context for Leber Optic Atrophy and Dystonia

Organs/tissues related to Leber Optic Atrophy and Dystonia:

Publications for Leber Optic Atrophy and Dystonia

Articles related to Leber Optic Atrophy and Dystonia:

Genes for Leber Optic Atrophy and Dystonia

Genes related to Leber Optic Atrophy and Dystonia (4 elite genes):

Variations for Leber Optic Atrophy and Dystonia

ClinVar genetic disease variations for Leber Optic Atrophy and Dystonia:

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

Expression for Leber Optic Atrophy and Dystonia

Pathways for Leber Optic Atrophy and Dystonia

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

GO Terms for Leber Optic Atrophy and Dystonia

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

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

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

Sources for Leber Optic Atrophy and Dystonia