1. Mendelian
  2. Rare Disease Genes
  3. PCNA

PCNA gene related symptoms and diseases

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

Table of contents:

Top 5 symptoms and clinical features associated to PCNA gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Pes cavus Very Common - Between 80% and 100% cases
Progressive sensorineural hearing impairment Very Common - Between 80% and 100% cases
Progressive muscle weakness Very Common - Between 80% and 100% cases
Telangiectasia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Cutaneous photosensitivity
  • Neurodegeneration
  • Unsteady gait
  • Mental deterioration
  • Photophobia
  • Immunodeficiency
  • Short stature
  • Cerebellar atrophy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PCNA gene

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


PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Description

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Most common symptoms of PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for PCNA gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

PCNA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PCNA gene.

More info about this panel
United States.

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