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.

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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


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

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

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

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

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


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