ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary Optic Atrophies
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Accession:DOID:9005850 term browser browse the term
Definition:Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Synonyms:exact_synonym: Hereditary Optic Atrophy
 narrow_synonym: OPTIC ATROPHY, RECESSIVE
 primary_id: MESH:D015418
 alt_id: RDO:0000541
For additional species annotation, visit the Alliance of Genome Resources.


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Hereditary Optic Atrophies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:734690
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:8554872
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:8554872
RGD:7240710
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam172a family with sequence similarity 172, member A JBrowse link 2 4,942,795 5,547,744 RGD:8554872
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 2 5,569,954 5,579,894 RGD:7240710
RGD:8554872
G Pou5f2 POU domain class 5, transcription factor 2 JBrowse link 2 5,437,067 5,438,301 RGD:8554872
G RGD1560883 similar to KIAA0825 protein JBrowse link 2 4,195,871 4,755,065 RGD:8554872
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Antxr1 ANTXR cell adhesion molecule 1 JBrowse link 4 118,946,267 119,131,202 RGD:9684854
RGD:8554872
RGD:7240710
Leber hereditary optic neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685659
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:5688732
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Lrat lecithin retinol acyltransferase JBrowse link 2 181,896,304 181,905,366 RGD:11554173
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490293
RGD:11554173
RGD:8554872
RGD:5508187
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5508685
RGD:8554872
RGD:11554173
RGD:8657118
RGD:8657116
RGD:5508712
RGD:5508689
RGD:5508187
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:5508187
RGD:11554173
RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5508703
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:1581057
RGD:8554872
RGD:11554173
RGD:5508187
RGD:5507829
RGD:5491183
RGD:1581059
RGD:1581058
G Mt-nd4l mitochondrially encoded NADH 4L dehydrogenase JBrowse link MT 9,870 10,166 RGD:5686339
RGD:11554173
RGD:8554872
RGD:5686341
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:1581060
RGD:11554173
RGD:8554872
RGD:5507826
RGD:5491202
RGD:5491183
RGD:5491172
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8657119
RGD:11554173
RGD:8554872
RGD:8657127
RGD:8657125
RGD:8657123
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:12902617
RGD:12902618
G Rdh12 retinol dehydrogenase 12 JBrowse link 6 102,392,828 102,405,750 RGD:1599415
G Rpe65 retinoid isomerohydrolase RPE65 JBrowse link 2 266,141,581 266,169,197 RGD:11554173
G Rpgrip1 RPGR interacting protein 1 JBrowse link 15 28,521,287 28,575,046 RGD:1599580
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158101
RGD:8158104
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:5688732
Marsden Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
Optic Atrophy 1 and Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtn4ip1 reticulon 4 interacting protein 1 JBrowse link 20 48,881,124 48,924,921 RGD:8554872
RGD:7240710
Optic Atrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yme1l1 YME1-like 1 ATPase JBrowse link 17 89,701,899 89,741,919 RGD:8554872
RGD:7240710
Optic Atrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
RGD:7240710
Optic Atrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem126a transmembrane protein 126A JBrowse link 1 156,283,105 156,291,057 RGD:7240710
RGD:8554872
Optic Atrophy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Optic Atrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aco2 aconitase 2 JBrowse link 7 123,102,493 123,145,608 RGD:7240710
RGD:8554872
G Polr3h RNA polymerase III subunit H JBrowse link 7 123,146,248 123,156,558 RGD:8554872
Optic Atrophy and Cataract, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
Optic Atrophy, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872
RGD:11554173
RGD:7800716
RGD:7800715
RGD:7800709
RGD:7800708
RGD:7800706
RGD:7800704
RGD:7800699
RGD:7800686
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7800683
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710
Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:13592920
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:8554872
RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11554173
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:13592920
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 8 39,687,280 39,702,722 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:7240710
RGD:8554872
Wolfram syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490247
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:1599813
RGD:8554872
RGD:11554173
Wolfram syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872
RGD:7240710
Wolfram syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cisd2 CDGSH iron sulfur domain 2 JBrowse link 2 240,586,754 240,611,560 RGD:7240710
RGD:8554872
RGD:11554173
RGD:10045603
RGD:10045601
G Slc9b1 solute carrier family 9 member B1 JBrowse link 2 240,527,120 240,581,616 RGD:8554872
Wolfram-Like Syndrome, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        neurodegenerative disease 2091
          Nervous System Heredodegenerative Disorders 1168
            Hereditary Optic Atrophies 57
              AUDITORY NEUROPATHY AND OPTIC ATROPHY 1
              Berk-Tabatznik Syndrome 0
              Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
              Charcot-Marie-Tooth disease X-linked recessive 5 1
              Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
              Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
              Hagemoser Weinstein Bresnick Syndrome 0
              Konigsmark Knox Hussels Syndrome 0
              Leber hereditary optic neuropathy + 24
              Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
              Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult 0
              Optic Atrophy 1 and Deafness 1
              Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1
              Optic Atrophy 11 1
              Optic Atrophy 2 0
              Optic Atrophy 4 0
              Optic Atrophy 5 1
              Optic Atrophy 6 0
              Optic Atrophy 7 1
              Optic Atrophy 8 2
              Optic Atrophy 9 2
              Optic Atrophy Spastic Paraplegia Syndrome 0
              Optic Atrophy and Cataract, Autosomal Dominant 1
              Optic Atrophy with Demyelinating Disease of CNS 0
              Optic Atrophy with Negative Electroretinograms 0
              Optic Atrophy, Autosomal Dominant 3
              Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
              Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
              Senior-Loken syndrome + 12
              Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
              Spastic Paraplegia, Optic Atrophy, and Dementia 0
              Wolfram syndrome + 5
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            cranial nerve disease 356
              optic nerve disease 186
                optic atrophy 89
                  Hereditary Optic Atrophies 57
                    AUDITORY NEUROPATHY AND OPTIC ATROPHY 1
                    Berk-Tabatznik Syndrome 0
                    Bosch-Boonstra-Schaaf Optic Atrophy Syndrome 4
                    Charcot-Marie-Tooth disease X-linked recessive 5 1
                    Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 0
                    Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy 1
                    Hagemoser Weinstein Bresnick Syndrome 0
                    Konigsmark Knox Hussels Syndrome 0
                    Leber hereditary optic neuropathy + 24
                    Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 0
                    Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult 0
                    Optic Atrophy 1 and Deafness 1
                    Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1
                    Optic Atrophy 11 1
                    Optic Atrophy 2 0
                    Optic Atrophy 4 0
                    Optic Atrophy 5 1
                    Optic Atrophy 6 0
                    Optic Atrophy 7 1
                    Optic Atrophy 8 2
                    Optic Atrophy 9 2
                    Optic Atrophy Spastic Paraplegia Syndrome 0
                    Optic Atrophy and Cataract, Autosomal Dominant 1
                    Optic Atrophy with Demyelinating Disease of CNS 0
                    Optic Atrophy with Negative Electroretinograms 0
                    Optic Atrophy, Autosomal Dominant 3
                    Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 0
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
                    Senior-Loken syndrome + 12
                    Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                    Spastic Paraplegia, Optic Atrophy, and Dementia 0
                    Wolfram syndrome + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.