Optic Atrophy 12 (OPA12)

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Disease Ontology 12 DOID:0080840 OMIM® 57 618977 OMIM Phenotypic Series 57 PS165500

MeSH 44 D015418 MedGen 41 CN283325 SNOMED-CT via HPO 68 13164000 246622003 263681008 302200001 409668002 76976005 more

OMIM® : ⁵⁷ Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by Caporali et al., 2020). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (618977) (Updated 05-Mar-2021)

MalaCards based summary : Optic Atrophy 12, is also known as opa12. An important gene associated with Optic Atrophy 12 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include retina and brain, and related phenotypes are optic atrophy and photophobia

Disease Ontology : ¹² An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has material basis in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.

UniProtKB/Swiss-Prot : ⁷³ Optic atrophy 12: An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia.

Clinical features from OMIM®:

618977 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 12

Search GEO for disease gene expression data for Optic Atrophy 12.