OPA12
MCID: OPT080
MIFTS: 24
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Optic Atrophy 12 (OPA12)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Optic Atrophy 12:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive onset usually in first decade later onset (in some patients) variable additional features HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases |
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. |
Diseases in the Primary Optic Atrophy family:
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Human phenotypes related to Optic Atrophy 12:31 (show all 6)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618977 (Updated 05-Mar-2021) |
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Genetic tests related to Optic Atrophy 12:
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MalaCards organs/tissues related to Optic Atrophy 12:40
Retina,
Brain
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Articles related to Optic Atrophy 12:(show all 14)
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ClinVar genetic disease variations for Optic Atrophy 12:6
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Search
GEO
for disease gene expression data for Optic Atrophy 12.
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