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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Optic Atrophies, Hereditary (D015418)
..Starting node ..Optic Atrophy, Autosomal Dominant (D029241)
Child Nodes:
Sister Nodes:
..Berk-Tabatznik syndrome (C535432)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..Hagemoser Weinstein Bresnick syndrome (C537626)
..Konigsmark Knox Hussels syndrome (C537214)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..Optic atrophy 1 and deafness (C537124)
..Optic Atrophy 4 (C565343)
..Optic atrophy 5 (C537126)
..Optic atrophy 6 (C537127)
..Optic Atrophy 7 (C567833)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Optic atrophy polyneuropathy deafness (C537129)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Optic Atrophy with Negative Electroretinograms (C563494)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Wolfram Syndrome (D014929) 1
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D029241
MeSH: D029241
OMIM: 165500;

Genes: OPA1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003587	Insidious onset
3	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials
4	HP:0001251	Ataxia	HP:0040284
5	HP:0000603	Central scotoma
6	HP:0000576	Centrocecal scotoma
7	HP:0000666	Horizontal nystagmus	HP:0040284
8	HP:0003829	Incomplete penetrance
9	HP:0000648	Optic atrophy
10	HP:0000590	Progressive external ophthalmoplegia	HP:0040284
11	HP:0003701	Proximal muscle weakness	HP:0040284
12	HP:0000642	Red-green dyschromatopsia
13	HP:0007663	Reduced visual acuity
14	HP:0000486	Strabismus	HP:0040284
15	HP:0000552	Tritanomaly
16	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_130837.2(OPA1):c.740G>A (p.Arg247His)	-1	-	Pathogenic	138350727	RCV000055988;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193343942	193343942	NM_130837.2:c.740G>A	NP_570850.2:p.Arg247His	NC_000003.11:g.193343942G>A	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_130833.2(OPA1):c.22G>T (p.Ala8Ser)	4976	OPA1	Uncertain significance	794726939	RCV000173452; RCV000195807;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN169374	3	193311188	193311188	NM_130833.2:c.22G>T	NP_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)	4976	OPA1	Pathogenic	794727289	RCV000175871;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193332771	193332780	NM_015560.2:c.292_301delTTAAAACTTC	NP_056375.2:p.Leu98Alafs	NC_000003.11:g.193332771_193332780delTTAAAACTTC	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.533T>A (p.Leu178Ter)	4976	OPA1	Pathogenic	727504058	RCV000178304; RCV000153617;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193335051	193335051	NM_015560.2:c.533T>A	NP_056375.2:p.Leu178Ter	NC_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)	4976	OPA1	Pathogenic	794727804	RCV000179491;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193349411	193349412	NM_015560.2:c.635_636delAA	NP_056375.2:p.Lys212Argfs	NC_000003.11:g.193349411_193349412delAA	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.728T>A (p.Leu243Ter)	4976	OPA1	Pathogenic	863225274	RCV000201902;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193353256	193353256	NM_015560.2:c.728T>A	NP_056375.2:p.Leu243Ter	NC_000003.11:g.193353256T>A	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)	4976	OPA1	Pathogenic	121908375	RCV000005389; RCV000081771;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193355069	193355069	NM_015560.2:c.869G>A	NP_056375.2:p.Arg290Gln	NC_000003.11:g.193355069G>A	HGMD:CM002636,OMIM Allelic Variant:605290.0005	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.870+1G>A	4976	OPA1	Pathogenic	727504059	RCV000180336; RCV000153619;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193355071	193355071	NM_015560.2:c.870+1G>A		NC_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)	4976	OPA1	Pathogenic	28939082	RCV000005385;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193355769	193355769	NM_015560.2:c.899G>A	NP_056375.2:p.Gly300Glu	NC_000003.11:g.193355769G>A	OMIM Allelic Variant:605290.0001	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg)	4976	OPA1	Pathogenic	398124303	RCV000180653; RCV000081775;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193355853	193355853	NM_015560.2:c.983A>G	NP_056375.2:p.Lys328Arg	NC_000003.11:g.193355853A>G	HGMD:CS035064	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.1065+1G>T	4976	OPA1	Pathogenic	80356528	RCV000020717;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193360635	193360635	NM_015560.2:c.1065+1G>T		NC_000003.11:g.193360635G>T	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1067_1068dupTT (p.Ala357Leufs)	4976	OPA1	Pathogenic	863225275	RCV000201881;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193360765	193360766	NM_015560.2:c.1067_1068dupTT	NP_056375.2:p.Ala357Leufs	NC_000003.11:g.193360765_193360766dupTT	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter)	4976	OPA1	Pathogenic	104893753	RCV000005390; RCV000081746;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193360794	193360794	NM_015560.2:c.1096C>T	NP_056375.2:p.Arg366Ter	NC_000003.11:g.193360794C>T	HGMD:CM002638,OMIM Allelic Variant:605290.0006	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_130833.2(OPA1):c.1149A>G (p.Ile383Met)	4976	OPA1	Pathogenic;Uncertain significance	143319805	RCV000043607; RCV000043608; RCV000081747; RCV000198140; RCV000210748;	N	MedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN169374; MedGen:CN221809	3	193361167	193361167	NM_130833.2:c.1149A>G	NP_570846.1:p.Ile383Met		HGMD:CM080464,OMIM Allelic Variant:605290.0018	C0221061 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)	4976	OPA1	Pathogenic	727504060	RCV000153621;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193361208	193361208	NM_015560.2:c.1187T>G	NP_056375.2:p.Leu396Arg	NC_000003.11:g.193361208T>A,NC_000003.11:g.193361208T>G	HGMD:CM023112	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1199C>T (p.Pro400Leu)	4976	OPA1	Likely pathogenic	794727069	RCV000174378;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193361220	193361220	NM_015560.2:c.1199C>T	NP_056375.2:p.Pro400Leu	NC_000003.11:g.193361220C>T	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1202G>A (p.Gly401Asp)	4976	OPA1	Pathogenic	863225276	RCV000201900;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193361223	193361223	NM_015560.2:c.1202G>A	NP_056375.2:p.Gly401Asp	NC_000003.11:g.193361223G>A	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1310A>G (p.Gln437Arg)	4976	OPA1	Pathogenic	863225277	RCV000201926;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193361414	193361414	NM_015560.2:c.1310A>G	NP_056375.2:p.Gln437Arg	NC_000003.11:g.193361414A>G	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.1334G>A (p.Arg445His)	4976	OPA1	Pathogenic	80356529	RCV000174780; RCV000005396; RCV000081749;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN221809	3	193361785	193361785	NM_015560.2:c.1334G>A	NP_056375.2:p.Arg445His	NC_000003.11:g.193361785G>A	HGMD:CM030379,OMIM Allelic Variant:605290.0011	C0002902 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)	4976	OPA1	Pathogenic	398124297	RCV000174779; RCV000081750;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193361803	193361803	NM_015560.2:c.1352delT	NP_056375.2:p.Leu451Trpfs	NC_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)	4976	OPA1	Pathogenic	398124298	RCV000175211; RCV000081752;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193364899	193364899	NM_015560.2:c.1635C>A	NP_056375.2:p.Ser545Arg	NC_000003.11:g.193364899C>A	HGMD:CM061154	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_130837.2(OPA1):c.1834C>T (p.Arg612Ter)	4976	OPA1	Pathogenic	398124299	RCV000175210; RCV000081753;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193364933	193364933	NM_130837.2:c.1834C>T	NP_570850.2:p.Arg612Ter		HGMD:CM012173	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.2059_2060delGA (p.Glu687Thrfs)	4976	OPA1	Pathogenic	794727345	RCV000176222;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193374914	193374915	NM_015560.2:c.2059_2060delGA	NP_056375.2:p.Glu687Thrfs	NC_000003.11:g.193374914_193374915delGA	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter)	4976	OPA1	Likely pathogenic	863224906	RCV000199194;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193374986	193374986	NM_015560.2:c.2131C>T	NP_056375.2:p.Arg711Ter	NC_000003.11:g.193374986C>T	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2257C>T (p.Gln753Ter)	4976	OPA1	Pathogenic	398124301	RCV000176319; RCV000081760;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193376766	193376766	NM_015560.2:c.2257C>T	NP_056375.2:p.Gln753Ter	NC_000003.11:g.193376766C>T	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided
NM_015560.2(OPA1):c.2496+1G>T	4976	OPA1	Pathogenic	794727392	RCV000176494;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193380752	193380752	NM_015560.2:c.2496+1G>T		NC_000003.11:g.193380752G>T	-	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_130831.2(OPA1):c.2461C>T (p.Arg821Ter)	4976	OPA1	Pathogenic	794727405	RCV000176576; RCV000199431;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193382741	193382741	NM_130831.2:c.2461C>T	NP_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)	4976	OPA1	Pathogenic	80356530	RCV000005387; RCV000043606; RCV000081763; RCV000210745;	N	MedGen:C0221061,OMIM:210000,ORPHA:1239,SNOMED CT:66988006; MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:C1852267,OMIM:125250; MedGen:CN221809	3	193384959	193384962	NM_015560.2:c.2708_2711delTTAG	NP_056375.2:p.Val903Glyfs	NC_000003.11:g.193384959_193384962delTTAG	HGMD:CD002708,OMIM Allelic Variant:605290.0003	C0221061 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)	4976	OPA1	Pathogenic	80356531	RCV000005393;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009	3	193409859	193409859	NM_015560.2:c.2826delT	NP_056375.2:p.Arg943Glufs	NC_000003.11:g.193409859delT	OMIM Allelic Variant:605290.0009	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy
NM_015560.2(OPA1):c.2883A>C (p.Ter961Tyr)	4976	OPA1	Likely pathogenic	143929819	RCV000176886; RCV000153624;	N	MedGen:C0338508,OMIM:165500,ORPHA:98672,SNOMED CT:2065009; MedGen:CN221809	3	193409916	193409916	NM_015560.2:c.2883A>C	NP_056375.2:p.Ter961Tyr	NC_000003.11:g.193409916A>C	HGMD:CM061157	C0002902 206500 Anencephalus; C0338508 165500 Dominant hereditary optic atrophy; CN221809 not provided