RREB1 gene related symptoms and diseases
All the information presented here about the RREB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RREB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Laryngomalacia | Very Common - Between 80% and 100% cases |
| Posterior embryotoxon | Very Common - Between 80% and 100% cases |
| Foot polydactyly | Very Common - Between 80% and 100% cases |
| Hyperthyroidism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RREB1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bowel incontinence
- Dysphasia
- Acne
- Chronic otitis media
- Overfolded helix
- Abnormality of the thorax
- Hand polydactyly
- Cholelithiasis
And 118 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RREB1 gene
Here you will find a list of rare diseases related to the RREB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
22Q11.2 DELETION SYNDROME
Alternate names
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds
Description
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Most common symptoms of 22Q11.2 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 22Q11.2 DELETION SYNDROME
SOURCES: ORPHANET
Search interest in RREB1
Potential gene panels for RREB1 gene
RREB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RREB1 gene.
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CDKAL1 LAMA1 DHTKD1 PDE6D PTCHD1