POLR2F gene related symptoms and diseases

All the information presented here about the POLR2F gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to POLR2F gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Portal hypertension Very Common - Between 80% and 100% cases
Heterochromia iridis Very Common - Between 80% and 100% cases
Blue irides Very Common - Between 80% and 100% cases
Abnormal eyebrow morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with POLR2F gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypopigmentation of hair
  • Congenital nystagmus
  • Premature graying of hair
  • Intestinal obstruction
  • Decreased nerve conduction velocity
  • Demyelinating peripheral neuropathy
  • CNS hypomyelination
  • Anosmia

And 71 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to POLR2F gene

Here you will find a list of rare diseases related to the POLR2F. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Alternate names

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome, waardenburg-shah syndrome, neurologic variant, pcwh, ws4 plus

Description

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

Most common symptoms of PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

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


More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

SOURCES: OMIM MESH ORPHANET


Potential gene panels for POLR2F gene

POLR2F Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POLR2F gene.

More info about this panel


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