ASMT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to ASMT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Leukoencephalopathy Very Common - Between 80% and 100% cases
Pathologic fracture Very Common - Between 80% and 100% cases
Global brain atrophy Very Common - Between 80% and 100% cases
Oral-pharyngeal dysphagia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Personality changes
  • Abnormality of mitochondrial metabolism
  • Hypercalciuria
  • Back pain
  • Abnormality of the hand
  • Schizophrenia
  • Drooling
  • Leukopenia

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ASMT gene

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


Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity

More info about WILSON DISEASE


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