DGCR6 gene related symptoms and diseases

All the information presented here about the DGCR6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DGCR6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Sleep disturbance Very Common - Between 80% and 100% cases
Prolinuria Very Common - Between 80% and 100% cases
Hydroxyprolinuria Very Common - Between 80% and 100% cases
Hyperglycinuria Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DGCR6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Motor deterioration
  • Bruxism
  • Nephroblastoma
  • Nephritis
  • Schizophrenia
  • Severe muscular hypotonia
  • Stereotypy
  • Hemiparesis

And 16 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to DGCR6 gene

Here you will find a list of rare diseases related to the DGCR6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

HYPERPROLINEMIA TYPE 1 Is also known as hpi, proline oxidase deficiency


Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

Most common symptoms of HYPERPROLINEMIA TYPE 1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment



Potential gene panels for DGCR6 gene

DGCR6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DGCR6 gene.

More info about this panel

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