Disease Browser
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Parent Node: Cataract (D002386) | Parent Node: Optic Atrophies, Hereditary (D015418) | ..Starting node ..Optic atrophy and cataract, autosomal dominant (C537128)
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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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | | 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 | Disease_hgmd | NM_025136.3(OPA3):c.313C>G (p.Gln105Glu) | 80207 | OPA3 | Pathogenic | 80356525 | RCV000004463; | N | MedGen:C1833809,OMIM:165300,ORPHA:67036 | 19 | 46056999 | 46056999 | NM_025136.3:c.313C>G | NP_079412.1:p.Gln105Glu | NC_000019.9:g.46056999G>C | OMIM Allelic Variant:606580.0003 | C1833809 165300 Optic atrophy and cataract, autosomal dominant | | | NM_025136.3(OPA3):c.277G>A (p.Gly93Ser) | 80207 | OPA3 | Pathogenic | 80356524 | RCV000004462; | N | MedGen:C1833809,OMIM:165300,ORPHA:67036 | 19 | 46057035 | 46057035 | NM_025136.3:c.277G>A | NP_079412.1:p.Gly93Ser | NC_000019.9:g.46057035C>T | OMIM Allelic Variant:606580.0002 | C1833809 165300 Optic atrophy and cataract, autosomal dominant | | | NM_025136.3(OPA3):c.231T>C (p.Ala77=) | 80207 | OPA3 | Benign;Likely benign | 3826860 | RCV000020908; RCV000132683; RCV000082252; | N | MedGen:C1833809,OMIM:165300,ORPHA:67036; MedGen:CN169374; MedGen:CN221809 | 19 | 46057081 | 46057081 | NM_025136.3:c.231T>C | NP_079412.1:p.Ala77= | NC_000019.9:g.46057081A>G | - | CN221809 not provided; CN169374 not specified; C1833809 165300 Optic atrophy and cataract, autosomal dominant | | |
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