MSeqDR Mitochondrial Disease Portal


 
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Mitochondrial Diseases (D028361)
Parent Node:
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Optic Atrophies, Hereditary (D015418)
..Starting node
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Optic Atrophy, Hereditary, Leber (D029242)

       Child Nodes:
........expandMarsden syndrome (C536024)



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)  LSDB  L: 00433;
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)  LSDB  L: 00656;
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)  LSDB  L: 00156;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8283
Name:Optic Atrophy, Hereditary, Leber
Definition:A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Alternative IDs:OMIM:308905|OMIM:535000
ParentIDs:MESH:D015418|MESH:D028361
TreeNumbers:C10.292.700.225.500.400 |C10.574.500.662.400 |C11.270.564.400 |C11.640.451.451.400 |C16.320.290.564.400 |C16.320.400.630.400 |C18.452.660.670
Synonyms:Disease, Leber's |Diseases, Leber's |Hereditary Optic Neuroretinopathies |Hereditary Optic Neuroretinopathy |Leber Disease |Leber Hereditary Optic Atrophy |Leber Hereditary Optic Neuropathy |LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF |Leber Optic Atrophy |Leb
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D029242
MeSH: D029242
OMIM: 53500;
MSeqDR LSDB: 00072; 00492;  
Genes:
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
m.8686T>C4508MT-ATP6not provided-1RCV000709918; RCV000709918; RCV000709918; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN043634; MedGen:C1328349,OMIM:551500, Orphanet:ORPHA644M86868686m.8686T>C-
m.9101T>C4508MT-ATP6Pathogenic199476134RCV000010277; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M91019101m.9101T>COMIM Allelic Variant:516060.0003C0917796 535000 Leber's optic atrophy;
m.7444G>A-1MT-CO1;MT-TS1Pathogenic199474822RCV000010300; RCV000010301; RCV000010299; YMedGen:C1838854,OMIM:580000, Orphanet:ORPHA168609; MedGen:C3151897,OMIM:500008; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M74447444m.7444G>AOMIM Allelic Variant:516030.0001,OMIM Allelic Variant:590080.0006C1838854 580000 Aminoglycoside-induced deafness;
m.9438G>A4514MT-CO3Pathogenic267606611RCV000010286; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M94389438m.9438G>AOMIM Allelic Variant:516050.0001C0917796 535000 Leber's optic atrophy;
m.9804G>A4514MT-CO3Conflicting interpretations of pathogenicity200613617RCV000010287; RCV000756352; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M98049804m.9804G>AOMIM Allelic Variant:516050.0002C0917796 535000 Leber's optic atrophy;
m.14831G>A4519MT-CYBPathogenic199795644RCV000055706; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1483114831m.14831G>A-C0917796 535000 Leber's optic atrophy;
m.15257G>A4519MT-CYBConflicting interpretations of pathogenicity41518645RCV000010312; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1525715257m.15257G>AOMIM Allelic Variant:516020.0001C0917796 535000 Leber's optic atrophy;
m.15437G>A4519MT-CYBUncertain significance878853058RCV000764855; RCV000764855; RCV000224435; NMedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:39925003; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M1543715437m.15437G>A-CN517202 not provided;
m.15812G>A4519MT-CYBPathogenic200336777RCV000010313; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1581215812m.15812G>AOMIM Allelic Variant:516020.0002C0917796 535000 Leber's optic atrophy;
m.3376G>A4535MT-ND1Pathogenic397515612RCV000056167; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M33763376m.3376G>A-C0917796 535000 Leber's optic atrophy;
m.3394T>C4535MT-ND1Pathogenic41460449RCV000010375; RCV000507319; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M33943394m.3394T>COMIM Allelic Variant:516000.0004C0917796 535000 Leber's optic atrophy;
m.3460G>A4535MT-ND1Pathogenic199476118RCV000010370; RCV000143998; RCV000735416; RCV000757484; YHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; na; MedGen:CN517202M34603460m.3460G>AOMIM Allelic Variant:516000.0001C0917796 535000 Leber's optic atrophy;
m.3635G>A4535MT-ND1Pathogenic397515507RCV000055707; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M36353635m.3635G>A-C0917796 535000 Leber's optic atrophy;
m.3697G>A4535MT-ND1Pathogenic199476122RCV000010385; RCV000010386; RCV000056168; NMedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:39925003; MedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M36973697m.3697G>AOMIM Allelic Variant:516000.0012C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.3700G>A4535MT-ND1Pathogenic397515508RCV000415448; RCV000055708; RCV000415448; RCV000415448; NHuman Phenotype Ontology:HP:0000512,MedGen:C0476397; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; Human Phenotype Ontology:HP:0001138,MedGen:C3887709; Human Phenotype Ontology:HP:0000572,MedGen:C3665M37003700m.3700G>A-C1849688 Abnormal electroretinogram;
m.3733G>A4535MT-ND1Pathogenic199476125RCV000010389; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M37333733m.3733G>AOMIM Allelic Variant:516000.0015C0917796 535000 Leber's optic atrophy;
m.4025C>T4535MT-ND1Pathogenic397515509RCV000055709; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M40254025m.4025C>T-C0917796 535000 Leber's optic atrophy;
m.4136A>G4535MT-ND1Pathogenic199476121RCV000010378; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M41364136m.4136A>GOMIM Allelic Variant:516000.0006C0917796 535000 Leber's optic atrophy;
m.4160T>C4535MT-ND1Pathogenic199476119RCV000010372; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M41604160m.4160T>COMIM Allelic Variant:516000.0002C0917796 535000 Leber's optic atrophy;
m.4171C>A4535MT-ND1Pathogenic28616230RCV000010384; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M41714171m.4171C>AOMIM Allelic Variant:516000.0010C0917796 535000 Leber's optic atrophy;
m.4216T>C4535MT-ND1Conflicting interpretations of pathogenicity1599988RCV000010373; RCV000709875; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M42164216m.4216T>COMIM Allelic Variant:516000.0003C0917796 535000 Leber's optic atrophy;
m.4640C>A4536MT-ND2Pathogenic387906426RCV000010366; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M46404640m.4640C>AOMIM Allelic Variant:516001.0003C0917796 535000 Leber's optic atrophy;
m.4917A>G4536MT-ND2Uncertain significance28357980RCV000010364; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M49174917m.4917A>GOMIM Allelic Variant:516001.0001C0917796 535000 Leber's optic atrophy;
m.5244G>A4536MT-ND2Pathogenic199476115RCV000010365; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M52445244m.5244G>AOMIM Allelic Variant:516001.0002C0917796 535000 Leber's optic atrophy;
m.10237T>C4537MT-ND3Pathogenic1556423787RCV000055695; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1023710237m.10237T>C-C0917796 535000 Leber's optic atrophy;
m.11253T>C4538MT-ND4Pathogenic200145866RCV000055696; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1125311253m.11253T>C-C0917796 535000 Leber's optic atrophy;
m.11360A>G4538MT-ND4Uncertain significance878928689RCV000764854; RCV000626558; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; Human Phenotype Ontology:HP:0001250,MedGen:C0036572M1136011360m.11360A>G-C0036572 Seizures;
m.11696G>A4538MT-ND4Pathogenic200873900RCV000010356; RCV000055697; NMedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1169611696m.11696G>AOMIM Allelic Variant:516003.0003C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.11778G>A4538MT-ND4Pathogenic199476112RCV000010354; RCV000224219; YHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M1177811778m.11778G>AOMIM Allelic Variant:516003.0001C0917796 535000 Leber's optic atrophy;
m.10663T>C4539MT-ND4LPathogenic1556423844RCV000010353; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1066310663m.10663T>COMIM Allelic Variant:516004.0002C0917796 535000 Leber's optic atrophy;
m.12338T>C4540MT-ND5Pathogenic201863060RCV000022893; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1233812338m.12338T>COMIM Allelic Variant:516005.0011C0917796 535000 Leber's optic atrophy;
m.12811T>C4540MT-ND5Uncertain significance199974018RCV000055698; RCV000507393; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:CN517202M1281112811m.12811T>C-C0917796 535000 Leber's optic atrophy;
m.12848C>T4540MT-ND5Pathogenic267606899RCV000010350; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1284812848m.12848C>TOMIM Allelic Variant:516005.0009C0917796 535000 Leber's optic atrophy;
m.13045A>C4540MT-ND5Pathogenic267606895RCV000010340; RCV000010341; RCV000010342; NMedGen:C0162671,OMIM:540000, Orphanet:ORPHA550,SNOMED CT:39925003; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C1838951M1304513045m.13045A>COMIM Allelic Variant:516005.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke;
m.13637A>G4540MT-ND5Pathogenic200855215RCV000055699; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1363713637m.13637A>G-C0917796 535000 Leber's optic atrophy;
m.13708G>A4540MT-ND5Conflicting interpretations of pathogenicity28359178RCV000010336; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1370813708m.13708G>AOMIM Allelic Variant:516005.0001C0917796 535000 Leber's optic atrophy;
m.13730G>A4540MT-ND5Pathogenic387906425RCV000010337; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1373013730m.13730G>AOMIM Allelic Variant:516005.0002C0917796 535000 Leber's optic atrophy;
m.14279G>A4541MT-ND6Pathogenic869025187RCV000055705; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1427914279m.14279G>A-C0917796 535000 Leber's optic atrophy;
m.14325T>C4541MT-ND6Pathogenic397515505RCV000055700; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1432514325m.14325T>C-C0917796 535000 Leber's optic atrophy;
m.14459G>A4541MT-ND6Pathogenic199476105RCV000010326; RCV000010327; RCV000144019; RCV000010328; NMedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:C1838951M1445914459m.14459G>AOMIM Allelic Variant:516006.0002C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.14482C>A4541MT-ND6Pathogenic199476108RCV000010332; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1448214482m.14482C>AOMIM Allelic Variant:516006.0006C0917796 535000 Leber's optic atrophy;
m.14482C>G4541MT-ND6Pathogenic199476108RCV000055701; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1448214482m.14482C>G-C0917796 535000 Leber's optic atrophy;
m.14484T>C4541MT-ND6Pathogenic199476104RCV000010325; RCV000144018; RCV000223709; YHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; MedGen:C0023264,OMIM:256000, Orphanet:ORPHA506,SNOMED CT:29570005; MedGen:CN517202M1448414484m.14484T>COMIM Allelic Variant:516006.0001C0917796 535000 Leber's optic atrophy;
m.14495A>G4541MT-ND6Pathogenic199476106RCV000010330; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1449514495m.14495A>GOMIM Allelic Variant:516006.0004C0917796 535000 Leber's optic atrophy;
m.14498T>C4541MT-ND6Pathogenic869025186RCV000055702; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1449814498m.14498T>C-C0917796 535000 Leber's optic atrophy;
m.14568C>T4541MT-ND6Pathogenic397515506RCV000055703; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1456814568m.14568C>T-C0917796 535000 Leber's optic atrophy;
m.14596A>T4541MT-ND6Pathogenic387906424RCV000010329; RCV000055704; NMedGen:C1839040,OMIM:500001; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003M1459614596m.14596A>TOMIM Allelic Variant:516006.0003C1839040 500001 Leber hereditary optic neuropathy with dystonia;
m.3275C>T4567MT-TL1Uncertain significance1057516057RCV000408928; RCV000408950; RCV000408938; RCV000408938; RCV000408938; RCV000408925; RCV000408938; RCV000408950; NMedGen:C0424605; MedGen:C0424605; MedGen:C0016059; Human Phenotype Ontology:HP:0001397,MedGen:C2711227; Human Phenotype Ontology:HP:0012115,MedGen:C0019158; Human Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:58610003; M32753275m.3275C>T-C0424605 Developmental delay;
NM_001166159.1(NDUFS2):c.268G>A (p.Ala90Thr)4720NDUFS2Pathogenic1553249704RCV000625868; NHuman Phenotype Ontology:HP:0001112,MedGen:C0917796,OMIM:535000, Orphanet:ORPHA104,SNOMED CT:586100031161176262161176262-C0917796 535000 Leber's optic atrophy;
MSeqDR Portal