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.

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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

SOURCES: ORPHANET MESH OMIM




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