CEP19 gene related symptoms and diseases

All the information presented here about the CEP19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEP19 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertriglyceridemia Very Common - Between 80% and 100% cases
Increased LDL cholesterol concentration Very Common - Between 80% and 100% cases
Decreased HDL cholesterol concentration Very Common - Between 80% and 100% cases
Oligospermia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEP19 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypercholesterolemia
  • Azoospermia
  • Insulin resistance
  • Myocardial infarction
  • Hypertension
  • Type II diabetes mellitus
  • Hepatic steatosis
  • Infertility

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEP19 gene

Here you will find a list of rare diseases related to the CEP19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OBESITY DUE TO CEP19 DEFICIENCY


Most common symptoms of OBESITY DUE TO CEP19 DEFICIENCY

  • Intellectual disability
  • Hypertension
  • Congestive heart failure
  • Obesity
  • Diabetes mellitus


More info about OBESITY DUE TO CEP19 DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for CEP19 gene

CEP19 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEP19 gene.

More info about this panel


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