CEP78 gene related symptoms and diseases

All the information presented here about the CEP78 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CEP78 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Rod-cone dystrophy Very Common - Between 80% and 100% cases
Progressive hearing impairment Very Common - Between 80% and 100% cases
Progressive visual loss Very Common - Between 80% and 100% cases
Nyctalopia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CEP78 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Reduced visual acuity
  • Visual field defect
  • Visual loss
  • Sensorineural hearing impairment
  • Not very common - Between 30% and 50% cases

  • Photophobia
  • Macular degeneration
  • High hypermetropia
  • Nystagmus

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CEP78 gene

Here you will find a list of rare diseases related to the CEP78. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


USHER SYNDROME TYPE 3


Alternate names

USHER SYNDROME TYPE 3 Is also known as ush3, usher syndrome, type iii

Description

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

Most common symptoms of USHER SYNDROME TYPE 3

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


More info about USHER SYNDROME TYPE 3

SOURCES: ORPHANET OMIM

CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL


Most common symptoms of CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness
  • Visual loss


More info about CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL

SOURCES: OMIM


Potential gene panels for CEP78 gene

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

CEP78 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CEP78 gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Usher Syndrome Panel Panel

Finland.

By Blueprint Genetics Usher Syndrome Panel that also includes the following genes: USH1C USH2A CLRN1 CDH23 PCDH15 ABHD12 USH1G WHRN ADGRV1 CIB2

More info about this panel

Cone Rod Dystrophy Panel Panel

Finland.

By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1

More info about this panel

CONE-ROD DYSTROPHY Panel

Spain.

By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1

More info about this panel


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