SCAPER gene related symptoms and diseases

All the information presented here about the SCAPER gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SCAPER gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Conductive hearing impairment Very Common - Between 80% and 100% cases
Abnormality of the retinal vasculature Very Common - Between 80% and 100% cases
Abnormality of the testis Very Common - Between 80% and 100% cases
Atypical scarring of skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SCAPER gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Keratoconus
  • Hyperinsulinemia
  • Abnormal electroretinogram
  • Abnormality of retinal pigmentation
  • Type II diabetes mellitus
  • Hypoplasia of penis
  • Ophthalmoplegia
  • Photophobia

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SCAPER gene

Here you will find a list of rare diseases related to the SCAPER. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETINITIS PIGMENTOSA

Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET


Potential gene panels for SCAPER gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

SCAPER Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SCAPER 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 DLX5 CTRC GHRL KMT2B DRD4 PLS3 NDUFS6