1. Mendelian
  2. Rare Disease Genes
  3. COMT

COMT gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to COMT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Laryngomalacia Very Common - Between 80% and 100% cases
Posterior embryotoxon Very Common - Between 80% and 100% cases
Foot polydactyly Very Common - Between 80% and 100% cases
Hyperthyroidism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COMT gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Bowel incontinence
  • Dysphasia
  • Acne
  • Chronic otitis media
  • Overfolded helix
  • Abnormality of the thorax
  • Hand polydactyly
  • Cholelithiasis

And 118 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COMT gene

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


22Q11.2 DELETION SYNDROME

Alternate names

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds

Description

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Most common symptoms of 22Q11.2 DELETION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about 22Q11.2 DELETION SYNDROME

SOURCES: ORPHANET



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