1. Mendelian
  2. Rare Disease Genes
  3. CSMD2

CSMD2 gene related symptoms and diseases

All the information presented here about the CSMD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CSMD2 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Myocarditis Very Common - Between 80% and 100% cases
Cheilitis Very Common - Between 80% and 100% cases
Elevated C-reactive protein level Very Common - Between 80% and 100% cases
Inflammatory abnormality of the eye Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CSMD2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Recurrent pharyngitis
  • Abnormal myocardium morphology
  • Allergy
  • Tubulointerstitial nephritis
  • Ascending tubular aorta aneurysm
  • Aortic root aneurysm
  • Acute kidney injury
  • Pericarditis

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CSMD2 gene

Here you will find a list of rare diseases related to the CSMD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KAWASAKI DISEASE

Alternate names

KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome

Description

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

Most common symptoms of KAWASAKI DISEASE

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


More info about KAWASAKI DISEASE

SOURCES: OMIM ORPHANET MESH


Potential gene panels for CSMD2 gene

CSMD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CSMD2 gene.

More info about this panel
United States.

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