RAP1A gene related symptoms and diseases
All the information presented here about the RAP1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RAP1A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Precocious puberty | Very Common - Between 80% and 100% cases |
| Hypodontia | Very Common - Between 80% and 100% cases |
| Microdontia | Very Common - Between 80% and 100% cases |
| Hypoplasia of penis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RAP1A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Congenital diaphragmatic hernia
- Coarctation of aorta
- Blue sclerae
- Abnormal form of the vertebral bodies
- Long eyelashes
- Preauricular skin tag
- Hemivertebrae
- Abnormal dermatoglyphics
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RAP1A gene
Here you will find a list of rare diseases related to the RAP1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KABUKI SYNDROME
Alternate names
KABUKI SYNDROME Is also known as kabuki make-up syndrome, niikawa-kuroki syndrome
Description
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Most common symptoms of KABUKI SYNDROME
- Seizures
- Short stature
- Microcephaly
- Scoliosis
- Nystagmus
More info about KABUKI SYNDROME
SOURCES: ORPHANET
Search interest in RAP1A
Potential gene panels for RAP1A gene
Kabuki Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Kabuki Syndrome Sequencing Panel with CNV Detection that also includes the following genes: KDM6A KMT2D RAP1A RAP1B
More info about this panel United States.
Kabuki syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome NGS test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
Kabuki syndrome Comprehensive test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome Comprehensive test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
Kabuki syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Kabuki syndrome Deletion / Duplication test that also includes the following genes: KDM6A RAB1B HNRNPK KMT2D RAP1A
More info about this panel United States.
KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panel Spain.
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