1. Mendelian
  2. Rare Disease Genes
  3. BRPF1

BRPF1 gene related symptoms and diseases

All the information presented here about the BRPF1 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.

Table of contents:

Top 5 symptoms and clinical features associated to BRPF1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of the cerebral white matter Very Common - Between 80% and 100% cases
Narrow mouth Very Common - Between 80% and 100% cases
Gastroesophageal reflux Very Common - Between 80% and 100% cases
Camptodactyly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BRPF1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Abnormality of the pinna
  • Wide mouth
  • Blepharophimosis
  • Short philtrum
  • Broad forehead
  • Joint hypermobility
  • Long philtrum
  • Flat face

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BRPF1 gene

Here you will find a list of rare diseases related to the BRPF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Description

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Most common symptoms of INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

SOURCES: OMIM


Potential gene panels for BRPF1 gene

BRPF1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BRPF1 gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CTNS ARHGAP24 KDM2B FLG ABCG5 ALG2 CDK16