RABEP1 gene related symptoms and diseases
All the information presented here about the RABEP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RABEP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Increased mean corpuscular volume | Very Common - Between 80% and 100% cases |
| Leukocytosis | Very Common - Between 80% and 100% cases |
| Osteomyelitis | Very Common - Between 80% and 100% cases |
| Microcytic anemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RABEP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myeloid leukemia
- Wheezing
- Iron deficiency anemia
- Poor appetite
- Aseptic necrosis
- Reticulocytosis
- Thrombocytosis
- Abnormality of the vasculature
And 57 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RABEP1 gene
Here you will find a list of rare diseases related to the RABEP1. 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
Search interest in RABEP1
Potential gene panels for RABEP1 gene
RABEP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RABEP1 gene.
More info about this panel United States.
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
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.
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