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Mitochondrial Diseases (D028361)
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Optic Atrophies, Hereditary (D015418)
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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_015560.2(OPA1):c.22G>T (p.Ala8Ser)4976OPA1Uncertain significance794726939RCV000173452; RCV000723425; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193311188193311188UniProtKB (protein):O60313#VAR_060825C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.533T>A (p.Leu178Ter)4976OPA1Pathogenic727504058RCV000178304; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193335051193335051-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.599C>T (p.Ser200Phe)4976OPA1Uncertain significance200243596RCV000765718; RCV000765718; RCV000765718; RCV000765718; RCV000765718; RCV000390873; RCV000489535; NMedGen:C0221061,OMIM:210000, Orphanet:ORPHA1239,SNOMED CT:66988006; MedGen:C3276549,OMIM:125250, Orphanet:ORPHA1215; MedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:C1847730,OMIM:606657; MedGen:C4225163,OMIM:616896; MedGen:CN239213; Me3193336700193336700-CN169374 not specified;
NM_130837.2(OPA1):c.740G>A (p.Arg247His)4976OPA1Uncertain significance138350727RCV000055988; RCV000657875; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193343942193343942-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter)4976OPA1Pathogenic863225274RCV000201902; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193353256193353256-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)4976OPA1Pathogenic121908375RCV000005389; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193355069193355069HGMD:CM002636,OMIM Allelic Variant:605290.0005,UniProtKB (protein):O60313#VAR_011483C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.870+1G>A4976OPA1Pathogenic727504059RCV000180336; RCV000578471; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; na3193355071193355071-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.870+4T>C4976OPA1Benign166850RCV000576690; RCV000275012; RCV000676694; RCV000081773; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN239213; MedGen:CN517202; MedGen:CN1693743193355074193355074-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.870+5G>A4976OPA1Likely pathogenic754576717RCV000678587; RCV000498640; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193355075193355075-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.871G>C (p.Val291Leu)4976OPA1Likely pathogenic1553876590RCV000709838; RCV000519528; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193355741193355741-CN517202 not provided;
NM_015560.2(OPA1):c.899G>A (p.Gly300Glu)4976OPA1Pathogenic28939082RCV000005385; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193355769193355769OMIM Allelic Variant:605290.0001,UniProtKB (protein):O60313#VAR_011484C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)4976OPA1Pathogenic398124303RCV000180653; RCV000081775; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193355853193355853HGMD:CS035064C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.985-1G>A4976OPA1Pathogenic879255510RCV000005386; RCV000518060; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193360553193360553OMIM Allelic Variant:605290.0002C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1065+1G>T4976OPA1Pathogenic80356528RCV000020717; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193360635193360635-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1067_1068dup (p.Ala357Leufs)4976OPA1Pathogenic863225275RCV000201881; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193360765193360766NC_000003.11:g.193360765_193360766dupTT-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter)4976OPA1Pathogenic104893753RCV000005390; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193360794193360794HGMD:CM002638,OMIM Allelic Variant:605290.0006C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met)4976OPA1Conflicting interpretations of pathogenicity143319805RCV000210748; RCV000043607; RCV000316085; RCV000677258; RCV000081747; NMedGen:C0221061,OMIM:210000, Orphanet:ORPHA1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN239213; Human Phenotype Ontology:HP:0000609,MedGen:C0338502, Orphanet:ORPHA137902; MedGen:CN5172023193361167193361167HGMD:CM080464,OMIM Allelic Variant:605290.0018,UniProtKB (protein):O60313#VAR_060837C0221061 210000 Abortive cerebellar ataxia;
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp)4976OPA1Pathogenic863225276RCV000201900; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193361223193361223-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1296_1298delCAT (p.Ile433del)4976OPA1Pathogenic879255511RCV000005391; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193361400193361402OMIM Allelic Variant:605290.0007C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg)4976OPA1Pathogenic863225277RCV000201926; RCV000274390; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193361414193361414-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)4976OPA1Pathogenic80356529RCV000005396; RCV000174780; RCV000508953; RCV000081749; NMedGen:C3276549,OMIM:125250, Orphanet:ORPHA1215; MedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN5172023193361785193361785HGMD:CM030379,OMIM Allelic Variant:605290.0011,UniProtKB (protein):O60313#VAR_015741C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_015560.2(OPA1):c.1352delT (p.Leu451Trpfs)4976OPA1Pathogenic398124297RCV000174779; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193361803193361803-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1354delG (p.Val452Serfs)4976OPA1Pathogenic879255512RCV000005392; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193361805193361805OMIM Allelic Variant:605290.0008C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1635C>A (p.Ser545Arg)4976OPA1Pathogenic398124298RCV000175211; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193364899193364899HGMD:CM061154,UniProtKB (protein):O60313#VAR_026533C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter)4976OPA1Pathogenic398124299RCV000175210; RCV000081753; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193364933193364933HGMD:CM012173C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2109T>C (p.Ala703=)4976OPA1Benign9851685RCV000576858; RCV000284298; RCV000676700; RCV000081757; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN239213; MedGen:CN517202; MedGen:CN1693743193374964193374964-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter)4976OPA1Pathogenic/Likely pathogenic863224906RCV000199194; RCV000756450; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193374986193374986-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter)4976OPA1Pathogenic398124301RCV000176319; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193376766193376766-C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.2(OPA1):c.2816dupA (p.Arg940Alafs)4976OPA1Pathogenic886043317RCV000273669; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193384122193384122-C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2708_2711delTTAG (p.Val903Glyfs)4976OPA1Pathogenic80356530RCV000210745; RCV000005387; RCV000508703; RCV000081763; NMedGen:C0221061,OMIM:210000, Orphanet:ORPHA1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN5172023193384959193384962HGMD:CD002708,OMIM Allelic Variant:605290.0003C0221061 210000 Abortive cerebellar ataxia;
NM_015560.2(OPA1):c.2825_2828delTTAG (p.Val942Glufs)4976OPA1Pathogenic879255560RCV000005388; RCV000355298; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:2065009; MedGen:CN5172023193409858193409861OMIM Allelic Variant:605290.0004C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2826delT (p.Arg943Glufs)4976OPA1Pathogenic80356531RCV000005393; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193409859193409859OMIM Allelic Variant:605290.0009C0338508 165500 Dominant hereditary optic atrophy;
NM_015560.2(OPA1):c.2848_2849delGA (p.Asp950Cysfs)4976OPA1Pathogenic879255513RCV000023413; RCV000005397; NMedGen:C3276549,OMIM:125250, Orphanet:ORPHA1215; MedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193409881193409882OMIM Allelic Variant:605290.0012C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr)4976OPA1Likely pathogenic143929819RCV000176886; NMedGen:C0338508,OMIM:165500, Orphanet:ORPHA98673,SNOMED CT:20650093193409916193409916HGMD:CM061157C0338508 165500 Dominant hereditary optic atrophy;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198836 MSeqDR Search EnsemblOPA11834optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]00073

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