BHMT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to BHMT 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 BHMT 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.


Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to BHMT gene

Here you will find a list of rare diseases related to the BHMT. 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


Potential gene panels for BHMT gene

BHMT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BHMT gene.

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PIH1D3 F11-AS1 HPD ZNF469 MT-CO2 ATF6

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more