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  3. CSNK2A1

CSNK2A1 gene related symptoms and diseases

All the information presented here about the CSNK2A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CSNK2A1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Poor speech Very Common - Between 80% and 100% cases
Absent speech Very Common - Between 80% and 100% cases
Clinodactyly Very Common - Between 80% and 100% cases
Constipation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CSNK2A1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Thin upper lip vermilion
  • Joint laxity
  • Attention deficit hyperactivity disorder
  • Synophrys
  • Joint hypermobility
  • Anteverted nares
  • Highly arched eyebrow
  • Decreased antibody level in blood

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CSNK2A1 gene

Here you will find a list of rare diseases related to the CSNK2A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Description

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Most common symptoms of OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

SOURCES: OMIM


Potential gene panels for CSNK2A1 gene

CSNK2A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CSNK2A1 gene.

More info about this panel
United States.

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel
United States.

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