MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
Parent Node:
expand
Optic Atrophies, Hereditary (D015418)
..Starting node
..expand
Optic atrophy 1 and deafness (C537124)

       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)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandOPTIC ATROPHY 11 (OMIM:617302)
..expandOPTIC ATROPHY 2 (OMIM:311050)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOPTIC ATROPHY 9 (OMIM:616289)
..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)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9142
Name:Optic atrophy 1 and deafness
Definition:
Alternative IDs:OMIM:125250
ParentIDs:MESH:D006319|MESH:D015418
TreeNumbers:C09.218.458.341.887/C537124 |C10.292.700.225.500/C537124 |C10.574.500.662/C537124 |C10.597.751.418.341.887/C537124 |C11.270.564/C537124 |C11.640.451.451/C537124 |C16.320.290.564/C537124 |C16.320.400.630/C537124 |C23.888.592.763.393.341.887/C537124
Synonyms:DOA+ |DOMINANT OPTIC ATROPHY PLUS SYNDROME |OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
Slim Mappings:Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms
Reference: MedGen: C537124
MeSH: C537124
OMIM: 125250;
MSeqDR LSDB: 00657;  
Genes: OPA1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000650Abnormal amplitude of pattern reversal visual evoked potentials
3 HP:0006958Abnormal auditory evoked potentials
4 HP:0001251AtaxiaHP:0040283
5 HP:0000603Central scotoma
6 HP:0000576Centrocecal scotoma
7 HP:0001288Gait disturbanceHP:0040283
8 HP:0000666Horizontal nystagmus
9 HP:0003557Increased variability in muscle fiber diameter
10 HP:0003198Myopathy
NAMDC:  Myopathy
11 HP:0000602Ophthalmoplegia
12 HP:0000648Optic atrophy
13 HP:0009830Peripheral neuropathy
14 HP:0003812Phenotypic variability
15 HP:0003676Progressive
16 HP:0000408Progressive sensorineural hearing impairment
17 HP:0000508Ptosis
NAMDC:  Ptosis
18 HP:0000642Red-green dyschromatopsia
19 HP:0007663Reduced visual acuity
20 HP:0001257Spasticity
NAMDC:  Spasticity
HP:0040283
21 HP:0000486Strabismus
22 HP:0000552Tritanomaly
23 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)4976OPA1Likely pathogenic-1RCV001542571; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193311169193311169GA193311169-
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)4976OPA1Benignrs75414918RCV000081767|RCV000295836|RCV000710167|RCV001787895|RCV001787894|RCV001787893; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193332522193332522CA3:g.193332522C>AClinGen:CA285728CN169374 not specified;
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)4976OPA1Conflicting interpretations of pathogenicityrs863224140RCV000197686|RCV000415438|RCV000487644|RCV000489905|RCV001197504; NMedGen:CN169374|9 conditions|MedGen:CN517202|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:12393193332587193332604TTTCACGAAGCATTTATCATNC_000003.11:g.193332592_193332609delClinGen:CA090938
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys)4976OPA1Uncertain significancers1728788655RCV001261527; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193332746193332746GT3:g.193332746G>T-
NM_130837.3(OPA1):c.321G>A (p.Ser107=)4976OPA1Benignrs117888848RCV000081765|RCV000337795|RCV000712466|RCV001787891|RCV001787892|RCV001787890; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193332800193332800GA3:g.193332800G>AClinGen:CA148777CN169374 not specified;
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)4976OPA1Uncertain significancers200983556RCV000503172|RCV000678318|RCV000658983; NMedGen:CN169374|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MedGen:CN5172023193332823193332823CTNC_000003.11:g.193332823C>TClinGen:CA2758985C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.556+1G>A4976OPA1Pathogenicrs1577162868RCV000853262; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193335075193335075GA3:g.193335075G>A-
NM_130837.3(OPA1):c.610+360G>A4976OPA1Uncertain significancers1553872542RCV000592332|RCV001542572; NMedGen:CN517202|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193335986193335986GA3:g.193335986G>AClinGen:CA658796406CN169374 not specified;
NM_130837.3(OPA1):c.970T>C (p.Ser324Pro)4976OPA1Likely pathogenic-1RCV001822916; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193355005193355005TC193355005-
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)4976OPA1Pathogenic/Likely pathogenicrs121908375RCV000005389|RCV000790668|RCV001336297; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193355069193355069GA3:g.193355069G>AClinGen:CA223219,UniProtKB:O60313#VAR_011483,OMIM:605290.0005C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1035+4T>C4976OPA1Benignrs166850RCV000081773|RCV000576690|RCV000676694|RCV001787898|RCV001787896|RCV001787897; NMedGen:CN169374|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MedGen:CN517202|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:12393193355074193355074TC3:g.193355074T>CClinGen:CA285744C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys)4976OPA1Likely pathogenic-1RCV001799524; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193355823193355823CG193355823-
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val)4976OPA1Pathogenicrs387906899RCV000023414|RCV000508763; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:683803193361398193361398AG3:g.193361398A>GClinGen:CA129226,OMIM:605290.0014C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)4976OPA1Pathogenicrs387906900RCV000023416|RCV001857360; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MedGen:CN5172023193361767193361767GT3:g.193361767G>TClinGen:CA129231,UniProtKB:O60313#VAR_072127,OMIM:605290.0016C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)4976OPA1Pathogenicrs80356529RCV000005396|RCV000081749|RCV000508953; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MedGen:CN517202|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:683803193361785193361785GA3:g.193361785G>AClinGen:CA275012,UniProtKB:O60313#VAR_015741,OMIM:605290.0011C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1511del (p.Thr504fs)4976OPA1Likely pathogenicrs794729196RCV000184014; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193361797193361797ACA3:g.193361797_193361797delClinGen:CA203841C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys)4976OPA1Likely pathogenic-1RCV001822915; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193363555193363555GA193363555-
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)4976OPA1Likely pathogenic-1RCV001542738; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193363563193363569AGTTTTTTA193363562-
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)4976OPA1Pathogenicrs398124298RCV000023415|RCV000508898|RCV001659726; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MedGen:CN5172023193364899193364899CG3:g.193364899C>GClinGen:CA10575554,OMIM:605290.0015C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr)4976OPA1Pathogenicrs879255592RCV000210742; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193364916193364916GA3:g.193364916G>AClinGen:CA10576004,OMIM:605290.0019C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln)4976OPA1Uncertain significance-1RCV001728025; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193364945193364945GC193364945-
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys)4976OPA1Pathogenicrs121908376RCV000005395; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193365898193365898AG3:g.193365898A>GClinGen:CA117252,UniProtKB:O60313#VAR_060853,OMIM:605290.0013C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)4976OPA1Benignrs9851685RCV000081757|RCV000676700|RCV000576858|RCV001787888|RCV001787889|RCV001787887; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MONDO:MONDO:0014820,MedGen:C4225163,OMIM:616896|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193374964193374964TC3:g.193374964T>CClinGen:CA285712C0338508 165500 Dominant hereditary optic atrophy;
NM_130837.3(OPA1):c.2287del (p.Ser763fs)4976OPA1Pathogenicrs1219753329RCV001249637|RCV001587285; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673; MONDO:MONDO:0007429,MedGen:C3276549,OMIM:125250; MONDO:MONDO:0008858,MedGen:C0221061,OMIM:210000, Orphanet:1239|MedGen:CN5172023193374975193374975GAG3:g.193374975_193374975del-
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp)4976OPA1Pathogenicrs387906901RCV000023417; NMONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193384980193384980TA3:g.193384980T>AUniProtKB:O60313#VAR_072132,OMIM:605290.0017,ClinGen:CA129235C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs)4976OPA1Pathogenicrs879255513RCV000005397|RCV000023413; NMONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500, Orphanet:98673|MONDO:MONDO:0007429,MedGen:C3276549,OMIM:1252503193409881193409882TGATNC_000003.11:g.193409881_193409882delClinGen:CA10575493,OMIM:605290.0012C1852267 125250 Autosomal dominant optic atrophy plus syndrome;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198836 MSeqDR Search EnsemblOPA11026optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]00657

*Click on gene and variants to check details. Or view all variants in new page