Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCataract (D002386)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandOptic atrophy and cataract, autosomal dominant (C537128)

       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)
..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)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..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, CTD
Term ID:8279
Name:Optic atrophy and cataract, autosomal dominant
Definition:
Alternative IDs:OMIM:165300
ParentIDs:MESH:D002386|MESH:D015418
TreeNumbers:C10.292.700.225.500/C537128 |C10.574.500.662/C537128 |C11.270.564/C537128 |C11.510.245/C537128 |C11.640.451.451/C537128 |C16.320.290.564/C537128 |C16.320.400.630/C537128
Synonyms:OPA3 |Opa3, Autosomal Dominant |Optic Atrophy 3, Autosomal Dominant |OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT |Optic atrophy, cataract, and neurologic disorder
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537128
MeSH: C537128
OMIM: 165300;

Genes: OPA3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002071Abnormality of extrapyramidal motor function
3 HP:0000707Abnormality of the nervous system
4 HP:0000518Cataract
5 HP:0000648Optic atrophy
6 HP:0007663Reduced visual acuity
7 HP:0001337Tremor
8 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_025136.3(OPA3):c.313C>G (p.Gln105Glu)80207OPA3Pathogenic80356525RCV000004463; NMedGen:C1833809,OMIM:165300,ORPHA:67036194605699946056999NM_025136.3:c.313C>GNP_079412.1:p.Gln105GluNC_000019.9:g.46056999G>COMIM Allelic Variant:606580.0003C1833809 165300 Optic atrophy and cataract, autosomal dominant
NM_025136.3(OPA3):c.277G>A (p.Gly93Ser)80207OPA3Pathogenic80356524RCV000004462; NMedGen:C1833809,OMIM:165300,ORPHA:67036194605703546057035NM_025136.3:c.277G>ANP_079412.1:p.Gly93SerNC_000019.9:g.46057035C>TOMIM Allelic Variant:606580.0002C1833809 165300 Optic atrophy and cataract, autosomal dominant
NM_025136.3(OPA3):c.231T>C (p.Ala77=)80207OPA3Benign;Likely benign3826860RCV000020908; RCV000132683; RCV000082252; NMedGen:C1833809,OMIM:165300,ORPHA:67036; MedGen:CN169374; MedGen:CN221809194605708146057081NM_025136.3:c.231T>CNP_079412.1:p.Ala77=NC_000019.9:g.46057081A>G-CN221809 not provided; CN169374 not specified; C1833809 165300 Optic atrophy and cataract, autosomal dominant