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  2. Rare Disease Genes
  3. CSMD1

CSMD1 gene related symptoms and diseases

All the information presented here about the CSMD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CSMD1 gene

Symptoms // Phenotype % Cases
Abdominal pain Very Common - Between 80% and 100% cases
Leukocytosis Very Common - Between 80% and 100% cases
Irritability Very Common - Between 80% and 100% cases
Fever Very Common - Between 80% and 100% cases
Fatigue Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CSMD1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hematuria
  • Jaundice
  • Cholestasis

  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Meningitis
  • Vasculitis
  • Ischemic stroke
  • Conjunctivitis

And 120 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CSMD1 gene

Here you will find a list of rare diseases related to the CSMD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SICKLE CELL ANEMIA

Alternate names

SICKLE CELL ANEMIA Is also known as sickle cell disease

Description

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

Most common symptoms of SICKLE CELL ANEMIA

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


More info about SICKLE CELL ANEMIA

SOURCES: OMIM MESH ORPHANET

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 CSMD1 gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel
United States.

CSMD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CSMD1 gene.

More info about this panel
United States.

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