OPA3
MCID: OPT068
MIFTS: 33
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Optic Atrophy 3, Autosomal Dominant (OPA3)
Categories:
Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Optic Atrophy 3, Autosomal Dominant:
Name: Optic Atrophy 3, Autosomal Dominant
57
Characteristics:Orphanet epidemiological data:59
autosomal dominant optic atrophy and cataract
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset of optic atrophy in childhood neurologic symptoms are not always present or may appear late HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Neuronal diseases Ear diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67036Disease definitionAutosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).Visit the Orphanet disease page for more resources.
MalaCards based summary : Optic Atrophy 3, Autosomal Dominant, also known as optic atrophy and cataract, autosomal dominant, is related to autosomal dominant optic atrophy plus syndrome and 3-methylglutaconic aciduria, type iii, and has symptoms including ataxia, abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with Optic Atrophy 3, Autosomal Dominant is OPA3 (OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator). Affiliated tissues include eye, brain and retina, and related phenotypes are nystagmus and ataxia Genetics Home Reference : 25 Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). UniProtKB/Swiss-Prot : 75 Optic atrophy 3: A condition that features 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. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.
Description from OMIM:
165300
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:165300Human phenotypes related to Optic Atrophy 3, Autosomal Dominant:59 32 (show all 38)
UMLS symptoms related to Optic Atrophy 3, Autosomal Dominant:ataxia, abnormality of extrapyramidal motor function, muscle spasticity |
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MalaCards organs/tissues related to Optic Atrophy 3, Autosomal Dominant:41
Eye,
Brain,
Retina
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Articles related to Optic Atrophy 3, Autosomal Dominant:
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UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 3, Autosomal Dominant:75
ClinVar genetic disease variations for Optic Atrophy 3, Autosomal Dominant:6 (show all 14)
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Search
GEO
for disease gene expression data for Optic Atrophy 3, Autosomal Dominant.
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