MSTO1 gene related symptoms and diseases

All the information presented here about the MSTO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MSTO1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Limb ataxia Very Common - Between 80% and 100% cases
Long face Very Common - Between 80% and 100% cases
Falls Very Common - Between 80% and 100% cases
Distal amyotrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MSTO1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Distal sensory impairment
  • Inability to walk
  • Small hand
  • Sensory impairment
  • Amenorrhea
  • Pigmentary retinopathy
  • Intention tremor
  • Primary amenorrhea

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MSTO1 gene

Here you will find a list of rare diseases related to the MSTO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


Alternate names

MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Most common symptoms of MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for MSTO1 gene

MSTO1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MSTO1 gene.

More info about this panel


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