OPA2 gene related symptoms and diseases
All the information presented here about the OPA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OPA2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Peripheral neuropathy | Very Common - Between 80% and 100% cases |
Dysarthria | Very Common - Between 80% and 100% cases |
Optic atrophy | Very Common - Between 80% and 100% cases |
Tremor | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with OPA2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Babinski sign
- Glaucoma
- Reduced visual acuity
- Abnormality of the nervous system
- Pallor
- Progressive visual loss
- Dysdiadochokinesis
- Abnormality of mitochondrial metabolism
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OPA2 gene
Here you will find a list of rare diseases related to the OPA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EARLY-ONSET X-LINKED OPTIC ATROPHY
Alternate names
EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset, optic atrophy type 2, opa2, non-leber type optic atrophy with early-onset, optic atrophy, x-linked
Description
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.
Most common symptoms of EARLY-ONSET X-LINKED OPTIC ATROPHY
- Intellectual disability
- Peripheral neuropathy
- Dysarthria
- Optic atrophy
- Tremor
More info about EARLY-ONSET X-LINKED OPTIC ATROPHY
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