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 45 49 67
Leber Optic Atrophy and Dystonia 45 67 65
Marsden Syndrome 45 67
Ldyt 45 67
 
Dystonia Familial, with Visual Failure and Striatal Lucencies 45
Familial Dystonia with Visual Failure and Striatal Lucencies 67
Leber's Hereditary Optic Neuropathy with Dystonia 45
Lhon and Dystonia 45

Characteristics:

HPO:

61
leber hereditary optic neuropathy with dystonia:
Inheritance: mitochondrial inheritance


Classifications:



External Ids:

MedGen34 C1839040
MeSH36 D029242
UMLS65 C1839040

Summaries for Leber Hereditary Optic Neuropathy with Dystonia

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NIH Rare Diseases:45 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 visual epilepsy and morbid obesity and spermatogenic failure, and has symptoms including peripheral neuropathy, skeletal muscle atrophy and scoliosis. 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 eye, skeletal muscle and thymus.

UniProtKB/Swiss-Prot:67 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:49 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 peripheral neuropathy HP:0009830
2 skeletal muscle atrophy HP:0003202
3 scoliosis HP:0002650
4 increased csf lactate HP:0002490
5 athetosis HP:0002305
6 increased serum lactate HP:0002151
7 bradykinesia HP:0002067
8 dysphagia HP:0002015
9 dystonia HP:0001332
10 dysarthria HP:0001260
11 spasticity HP:0001257
12 intellectual disability HP:0001249
13 leber optic atrophy HP:0001112
14 dementia HP:0000726
15 optic atrophy HP:0000648
16 visual loss HP:0000572
17 abnormality of eye movement HP:0000496

UMLS symptoms related to Leber Hereditary Optic Neuropathy with Dystonia:


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

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
Cysteamineapproved, investigationalPhase 22360-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
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:

33
Eye, Skeletal muscle, Thymus

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

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MGI Mouse Phenotypes related to Leber Hereditary Optic Neuropathy with Dystonia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
id Symbol AA change Variation ID SNP ID
1MT-ND4p.Val313IleVAR_008393
2MT-ND6p.Ala72ValVAR_004764
3MT-ND6p.Ile26MetVAR_008394

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:00061209.4MT-ND3, MT-ND4
2oxidation-reduction processGO:00551148.0MT-ND1, MT-ND3, MT-ND4, MT-ND6

Sources for Leber Hereditary Optic Neuropathy with Dystonia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet