MCID: LBR020
MIFTS: 31

Leber Hereditary Optic Neuropathy with Dystonia 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 46 50 68
Leber Optic Atrophy and Dystonia 46 68 66
Marsden Syndrome 46 68
Ldyt 46 68
 
Dystonia Familial, with Visual Failure and Striatal Lucencies 46
Familial Dystonia with Visual Failure and Striatal Lucencies 68
Leber's Hereditary Optic Neuropathy with Dystonia 46
Lhon and Dystonia 46

Characteristics:

HPO:

62
leber hereditary optic neuropathy with dystonia:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

MedGen35 C1839040
MeSH37 D029242

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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NIH Rare Diseases:46 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 alopecia, androgenetic, 2 and clubfoot, and has symptoms including athetosis, dystonia and muscle spasticity. 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:68 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:50 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 for Leber Hereditary Optic Neuropathy with Dystonia

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Symptoms by clinical synopsis from OMIM:

500001

Clinical features from OMIM:

500001

HPO human phenotypes related to Leber Hereditary Optic Neuropathy with Dystonia:

(show all 17)
id Description Frequency HPO Source Accession
1 abnormality of eye movement HP:0000496
2 visual loss HP:0000572
3 optic atrophy HP:0000648
4 dementia HP:0000726
5 leber optic atrophy HP:0001112
6 intellectual disability HP:0001249
7 spasticity HP:0001257
8 dysarthria HP:0001260
9 dystonia HP:0001332
10 dysphagia HP:0002015
11 bradykinesia HP:0002067
12 increased serum lactate HP:0002151
13 athetosis HP:0002305
14 increased csf lactate HP:0002490
15 scoliosis HP:0002650
16 skeletal muscle atrophy HP:0003202
17 peripheral neuropathy 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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Drugs for Leber Hereditary Optic Neuropathy with Dystonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CysteaminePhase 22660-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2

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Genetic Tests for Leber Hereditary Optic Neuropathy with Dystonia

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Anatomical Context for Leber Hereditary Optic Neuropathy with Dystonia

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

34
Skeletal muscle, Eye

Animal Models for Leber Hereditary Optic Neuropathy with Dystonia or affiliated genes

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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:

68
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> Asingle nucleotide variantPathogenicrs199476105GRCh37Chr MT, 14459: 14459
2MT-ND6m.14596A> Tsingle nucleotide variantPathogenicrs387906424GRCh37Chr MT, 14596: 14596
3MT-ND4m.11696G> Asingle nucleotide variantPathogenicrs200873900GRCh37Chr MT, 11696: 11696
4MT-ND3m.10197G> Asingle nucleotide variantPathogenicrs267606891GRCh37Chr MT, 10197: 10197
5MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr 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:00057479.3MT-ND1, MT-ND3, MT-ND4
2mitochondrionGO:00057398.5MT-ND1, MT-ND3, MT-ND4
3mitochondrial inner membraneGO:00057438.2MT-ND1, MT-ND3, MT-ND4, MT-ND6
4integral component of membraneGO:00160217.7MT-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 respiratory chain complex I assemblyGO:00329818.1MT-ND1, MT-ND3, MT-ND4, MT-ND6
3mitochondrial electron transport, NADH to ubiquinoneGO:00061207.9MT-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:00081378.0MT-ND1, MT-ND3, MT-ND4, MT-ND6

Sources for Leber Hereditary Optic Neuropathy with Dystonia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
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44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet