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.
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 featuresPatients with CSMD1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
Not very common - Between 30% and 50% cases
- Intellectual disability
- Ischemic stroke
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
SICKLE CELL ANEMIA Is also known as sickle cell disease
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
More info about SICKLE CELL ANEMIA
KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome
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
More info about KAWASAKI DISEASE
Search interest in CSMD1
Potential gene panels for CSMD1 gene
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
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 SYN2More info about this panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CSMD1 gene.More info about this panel