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ONTOLOGY REPORT - ANNOTATIONS


Term:optic atrophy 1
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Accession:DOID:0111441 term browser browse the term
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.
Synonyms:exact_synonym: DOMINANT HEREDITARY OPTIC ATROPHY;   Dominant Optic Atrophies;   Dominant Optic Atrophy;   Juvenile Optic Atrophies;   Juvenile Optic Atrophy;   Kjer Optic Atrophy;   Kjer Type Optic Atrophy;   Kjer's Optic Atrophy;   Kjer-Type Optic Atrophies;   Kjers Optic Atrophy;   OAK;   OPA1;   Optic Atrophy, Autosomal Dominant;   Optic Atrophy, Hereditary, Autosomal Dominant;   autosomal dominant optic atrophy Kjer type;   optic atrophy type 1
 primary_id: MESH:D029241
 alt_id: OMIM:165500
For additional species annotation, visit the Alliance of Genome Resources.


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optic atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:7800686
RGD:8554872
RGD:11554173
RGD:7240710
RGD:7800699
RGD:7800704
RGD:7800706
RGD:7800708
RGD:7800709
RGD:7800715
RGD:7800716
G OPA1-AS1 OPA1 antisense RNA 1 JBrowse link 3 193,618,599 193,627,332 RGD:8554872
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 JBrowse link 19 45,527,427 45,584,802 RGD:8554872
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 4 6,260,368 6,303,265 RGD:7800683

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16528
    Nutritional and Metabolic Diseases 4563
      disease of metabolism 4563
        mitochondrial metabolism disease 355
          optic atrophy 1 4
Path 2
Term Annotations click to browse term
  disease 16528
    disease of anatomical entity 15507
      nervous system disease 11780
        peripheral nervous system disease 2267
          neuropathy 2099
            cranial nerve disease 391
              optic nerve disease 199
                optic atrophy 101
                  Hereditary Optic Atrophies 63
                    optic atrophy 1 4
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.