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Mitochondrial Diseases (D028361)
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Optic Atrophies, Hereditary (D015418)
..Starting node
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Optic Atrophy, Autosomal Dominant (D029241)

       Child Nodes:



 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)
..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:8280
Name:Optic Atrophy, Autosomal Dominant
Definition:Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
Alternative IDs:OMIM:165500
ParentIDs:MESH:D015418|MESH:D028361
TreeNumbers:C10.292.700.225.500.100 |C10.574.500.662.100 |C11.270.564.100 |C11.640.451.451.100 |C16.320.290.564.100 |C16.320.400.630.100 |C18.452.660.665
Synonyms:Atrophies, Juvenile Optic |Atrophies, Kjer-Type Optic |Atrophy, Juvenile Optic |Atrophy, Kjer's Optic |Atrophy, Kjer-Type Optic |Autosomal Dominant Optic Atrophy |Autosomal Dominant Optic Atrophy Kjer Type |Dominant Optic Atrophies |Dominant Optic Atrophy |Juveni
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D029241
MeSH: D029241
OMIM: 165500;
MSeqDR LSDB: 00073;  
Genes: OPA1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003587Insidious onset
3 HP:0000650Abnormal amplitude of pattern reversal visual evoked potentials
4 HP:0001251Ataxia31/104
5 HP:0000603Central scotoma
6 HP:0000576Centrocecal scotoma
7 HP:0000666Horizontal nystagmus5%
8 HP:0003829Incomplete penetrance
9 HP:0000648Optic atrophy
10 HP:0000590Progressive external ophthalmoplegia48/104
11 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
37/104
12 HP:0000642Red-green dyschromatopsia
13 HP:0007663Reduced visual acuity
14 HP:0000486Strabismus10%
15 HP:0000552Tritanomaly
16 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_130837.2(OPA1):c.740G>A (p.Arg247His)-1-Pathogenic138350727RCV000055988; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193343942193343942NM_130837.2:c.740G>ANP_570850.2:p.Arg247HisNC_000003.11:g.193343942G>A-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_130833.2(OPA1):c.22G>T (p.Ala8Ser)4976OPA1Uncertain significance794726939RCV000173452; RCV000195807; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN1693743193311188193311188NM_130833.2:c.22G>TNP_570846.1:p.Ala8Ser-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN169374 not specified
NM_015560.2(OPA1):c.292_301delTTAAAACTTC (p.Leu98Alafs)4976OPA1Pathogenic794727289RCV000175871; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193332771193332780NM_015560.2:c.292_301delTTAAAACTTCNP_056375.2:p.Leu98AlafsNC_000003.11:g.193332771_193332780delTTAAAACTTC-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.533T>A (p.Leu178Ter)4976OPA1Pathogenic727504058RCV000178304; RCV000153617; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193335051193335051NM_015560.2:c.533T>ANP_056375.2:p.Leu178TerNC_000003.11:g.193335051T>A-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.635_636delAA (p.Lys212Argfs)4976OPA1Pathogenic794727804RCV000179491; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193349411193349412NM_015560.2:c.635_636delAANP_056375.2:p.Lys212ArgfsNC_000003.11:g.193349411_193349412delAA-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter)4976OPA1Pathogenic863225274RCV000201902; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193353256193353256NM_015560.2:c.728T>ANP_056375.2:p.Leu243TerNC_000003.11:g.193353256T>A-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)4976OPA1Pathogenic121908375RCV000005389; RCV000081771; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193355069193355069NM_015560.2:c.869G>ANP_056375.2:p.Arg290GlnNC_000003.11:g.193355069G>AHGMD:CM002636,OMIM Allelic Variant:605290.0005C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.870+1G>A4976OPA1Pathogenic727504059RCV000180336; RCV000153619; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193355071193355071NM_015560.2:c.870+1G>ANC_000003.11:g.193355071G>A-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.899G>A (p.Gly300Glu)4976OPA1Pathogenic28939082RCV000005385; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193355769193355769NM_015560.2:c.899G>ANP_056375.2:p.Gly300GluNC_000003.11:g.193355769G>AOMIM Allelic Variant:605290.0001C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)4976OPA1Pathogenic398124303RCV000180653; RCV000081775; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193355853193355853NM_015560.2:c.983A>GNP_056375.2:p.Lys328ArgNC_000003.11:g.193355853A>GHGMD:CS035064C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.1065+1G>T4976OPA1Pathogenic80356528RCV000020717; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193360635193360635NM_015560.2:c.1065+1G>TNC_000003.11:g.193360635G>T-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1067_1068dupTT (p.Ala357Leufs)4976OPA1Pathogenic863225275RCV000201881; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193360765193360766NM_015560.2:c.1067_1068dupTTNP_056375.2:p.Ala357LeufsNC_000003.11:g.193360765_193360766dupTT-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter)4976OPA1Pathogenic104893753RCV000005390; RCV000081746; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193360794193360794NM_015560.2:c.1096C>TNP_056375.2:p.Arg366TerNC_000003.11:g.193360794C>THGMD:CM002638,OMIM Allelic Variant:605290.0006C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_130833.2(OPA1):c.1149A>G (p.Ile383Met)4976OPA1Pathogenic;Uncertain significance143319805RCV000043607; RCV000043608; RCV000081747; RCV000198140; RCV000210748; NMedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN169374; MedGen:CN2218093193361167193361167NM_130833.2:c.1149A>GNP_570846.1:p.Ile383MetHGMD:CM080464,OMIM Allelic Variant:605290.0018C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; CN169374 not specified; C1852267 125250 Optic Atrophy Type 1
NM_015560.2(OPA1):c.1187T>G (p.Leu396Arg)4976OPA1Pathogenic727504060RCV000153621; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193361208193361208NM_015560.2:c.1187T>GNP_056375.2:p.Leu396ArgNC_000003.11:g.193361208T>A,NC_000003.11:g.193361208T>GHGMD:CM023112C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu)4976OPA1Likely pathogenic794727069RCV000174378; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193361220193361220NM_015560.2:c.1199C>TNP_056375.2:p.Pro400LeuNC_000003.11:g.193361220C>T-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp)4976OPA1Pathogenic863225276RCV000201900; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193361223193361223NM_015560.2:c.1202G>ANP_056375.2:p.Gly401AspNC_000003.11:g.193361223G>A-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg)4976OPA1Pathogenic863225277RCV000201926; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193361414193361414NM_015560.2:c.1310A>GNP_056375.2:p.Gln437ArgNC_000003.11:g.193361414A>G-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)4976OPA1Pathogenic80356529RCV000174780; RCV000005396; RCV000081749; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN2218093193361785193361785NM_015560.2:c.1334G>ANP_056375.2:p.Arg445HisNC_000003.11:g.193361785G>AHGMD:CM030379,OMIM Allelic Variant:605290.0011C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; C1852267 125250 Optic Atrophy Type 1
NM_015560.2(OPA1):c.1352delT (p.Leu451Trpfs)4976OPA1Pathogenic398124297RCV000174779; RCV000081750; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193361803193361803NM_015560.2:c.1352delTNP_056375.2:p.Leu451TrpfsNC_000003.11:g.193361803delT-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg)4976OPA1Pathogenic398124298RCV000175211; RCV000081752; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193364899193364899NM_015560.2:c.1635C>ANP_056375.2:p.Ser545ArgNC_000003.11:g.193364899C>AHGMD:CM061154C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_130837.2(OPA1):c.1834C>T (p.Arg612Ter)4976OPA1Pathogenic398124299RCV000175210; RCV000081753; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193364933193364933NM_130837.2:c.1834C>TNP_570850.2:p.Arg612TerHGMD:CM012173C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.2059_2060delGA (p.Glu687Thrfs)4976OPA1Pathogenic794727345RCV000176222; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193374914193374915NM_015560.2:c.2059_2060delGANP_056375.2:p.Glu687ThrfsNC_000003.11:g.193374914_193374915delGA-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter)4976OPA1Likely pathogenic863224906RCV000199194; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193374986193374986NM_015560.2:c.2131C>TNP_056375.2:p.Arg711TerNC_000003.11:g.193374986C>T-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter)4976OPA1Pathogenic398124301RCV000176319; RCV000081760; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193376766193376766NM_015560.2:c.2257C>TNP_056375.2:p.Gln753TerNC_000003.11:g.193376766C>T-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.2496+1G>T4976OPA1Pathogenic794727392RCV000176494; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193380752193380752NM_015560.2:c.2496+1G>TNC_000003.11:g.193380752G>T-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_130831.2(OPA1):c.2461C>T (p.Arg821Ter)4976OPA1Pathogenic794727405RCV000176576; RCV000199431; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193382741193382741NM_130831.2:c.2461C>TNP_570844.1:p.Arg821Ter-C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs)4976OPA1Pathogenic80356530RCV000005387; RCV000043606; RCV000081763; RCV000210745; NMedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN2218093193384959193384962NM_015560.2:c.2708_2711delTTAGNP_056375.2:p.Val903GlyfsNC_000003.11:g.193384959_193384962delTTAGHGMD:CD002708,OMIM Allelic Variant:605290.0003C0221061 210000 Abortive cerebellar ataxia; C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided; C1852267 125250 Optic Atrophy Type 1
NM_015560.2(OPA1):c.2826delT (p.Arg943Glufs)4976OPA1Pathogenic80356531RCV000005393; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:20650093193409859193409859NM_015560.2:c.2826delTNP_056375.2:p.Arg943GlufsNC_000003.11:g.193409859delTOMIM Allelic Variant:605290.0009C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr)4976OPA1Likely pathogenic143929819RCV000176886; RCV000153624; NMedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN2218093193409916193409916NM_015560.2:c.2883A>CNP_056375.2:p.Ter961TyrNC_000003.11:g.193409916A>CHGMD:CM061157C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198836 MSeqDR Search EnsemblOPA11829optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]00073

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