PCDH15 gene related symptoms and diseases

All the information presented here about the PCDH15 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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to PCDH15 gene

Symptoms // Phenotype	% Cases
Sensorineural hearing impairment	Very Common - Between 80% and 100% cases
Hearing impairment	Very Common - Between 80% and 100% cases
Rod-cone dystrophy	Common - Between 50% and 80% cases
Vestibular dysfunction	Common - Between 50% and 80% cases
Severe hearing impairment	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PCDH15 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Nyctalopia
Retinopathy
Pigmentary retinopathy
Progressive hearing impairment
Motor delay
Visual loss
Progressive visual loss
Rarely - Less than 30% cases
Scotoma

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PCDH15 gene

Here you will find a list of rare diseases related to the PCDH15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

Hearing impairment
Sensorineural hearing impairment
Nyctalopia

More info about DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

SOURCES: MESH OMIM

USHER SYNDROME, TYPE ID; USH1D

Description

Most common symptoms of USHER SYNDROME, TYPE ID; USH1D

Hearing impairment
Sensorineural hearing impairment
Rod-cone dystrophy
Retinopathy
Pigmentary retinopathy

More info about USHER SYNDROME, TYPE ID; USH1D

SOURCES: OMIM

USHER SYNDROME, TYPE IF; USH1F

Description

Usher syndrome constitutes a group of autosomal recessive disorders characterized by progressive pigmentary retinopathy and sensorineural hearing loss. Phenotypic distinctions are based on auditory and vestibular differences. Persons with forms of Usher syndrome type I (OMIM ) have congenital severe to profound hearing loss and vestibular dysfunction.

Most common symptoms of USHER SYNDROME, TYPE IF; USH1F

Hearing impairment
Sensorineural hearing impairment
Motor delay
Rod-cone dystrophy
Retinopathy

More info about USHER SYNDROME, TYPE IF; USH1F

SOURCES: OMIM

USHER SYNDROME, TYPE IG; USH1G

Description

Usher syndrome is an autosomal recessive disorder associated with sensorineural hearing impairment and progressive visual loss attributable to retinitis pigmentosa. The syndrome is both clinically and genetically heterogeneous. Of the 3 different clinical types that have been described, USH1 (OMIM ), consisting of the association of profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa, is the most severe.

Most common symptoms of USHER SYNDROME, TYPE IG; USH1G

Hearing impairment
Sensorineural hearing impairment
Visual loss
Rod-cone dystrophy
Progressive visual loss

More info about USHER SYNDROME, TYPE IG; USH1G

SOURCES: MESH OMIM

USHER SYNDROME TYPE 1

Alternate names

USHER SYNDROME TYPE 1 Is also known as ush1, retinitis pigmentosa and congenital deafness, us1

Description

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss. Genetic Heterogeneity of Usher Syndrome Type IUSH type I is genetically heterogeneous. USH1C (OMIM ), the 'Acadian variety,' is caused by mutation in harmonin (OMIM ), on 11p15. USH1D (OMIM ) is caused by mutation in the cadherin-23 (CDH23 ) on 10q21. USH1F (OMIM ) is caused by mutation in the protocadherin-15 (PCDH15 ) on 10q22. USH1G (OMIM ) is caused by mutation in the SANS gene (OMIM ), on 17q25. USH1E (OMIM ) maps to 21q21, and USH1H (OMIM ) maps to 15q22-q23. USH1J (OMIM ) is caused by mutation in the CIB2 gene (OMIM ) on 15q24. USH1K (OMIM ) maps to chromosome 10p11.21-q21.1.A form of USH type I in which affected members carried heterozygous mutations in both CDH23 and PCDH15 has been reported (USH1D/F; see {601067}), thus supporting a digenic model for some individuals with this phenotype.Gerber et al. (2006) presented evidence that the form of USH1 previously called USH1A, or the 'French variety,' and mapped to chromosome 14 does not in fact exist; mutations in the MYO7A gene were found in most of these families, and in others the phenotype was found to map to other loci.Ahmed et al. (2003) reviewed the molecular genetics of Usher syndrome and indicated that at least 12 loci had been identified as underlying the 3 different clinical subtypes.

Most common symptoms of USHER SYNDROME TYPE 1

Intellectual disability
Global developmental delay
Hearing impairment
Ataxia
Sensorineural hearing impairment

More info about USHER SYNDROME TYPE 1

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb

More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

SOURCES: ORPHANET

Search interest in PCDH15

Potential gene panels for PCDH15 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

PCDH15 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PCDH15 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to PCDH15 gene

DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23

USHER SYNDROME, TYPE ID; USH1D

Description

Most common symptoms of USHER SYNDROME, TYPE ID; USH1D

USHER SYNDROME, TYPE IF; USH1F

Description

Most common symptoms of USHER SYNDROME, TYPE IF; USH1F

USHER SYNDROME, TYPE IG; USH1G

Description

Most common symptoms of USHER SYNDROME, TYPE IG; USH1G

USHER SYNDROME TYPE 1

Alternate names

Description

Most common symptoms of USHER SYNDROME TYPE 1

AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB

Alternate names

Search interest in PCDH15

Potential gene panels for PCDH15 gene

MitoMet®Plus aCGH Analysis Panel

PCDH15 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

PCDH15 Deletion/Duplication Analysis Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

NGS Hearing Loss Panel Panel

Ashkenazi Jewish Carrier Screening Panel Panel

OtoSCOPE Panel

Hearing Loss Panel Panel

Ciliopathies Panel

OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) Panel

Usher Syndrome Panel by next-generation sequencing Panel

PCDH15 Sequencing Panel

OtoSeq Hearing Loss Deletion/Duplication Panel Panel

Usher Syndrome Deletion/Duplication Panel Panel

PCDH15 Deletion/duplication analysis Panel

Usher Syndrome Type 1F Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel

Ashkenazi Jewish Diseases, 16 Genes Panel

Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants Panel

Audiome (hearing loss panel) Panel

Usher syndrome type 1D/F (sequence analysis of PCDH15 gene) Panel

Deafness, autosomal recessive 23 (sequence analysis of PCDH15 gene) Panel

Syndromic deafness (NGS panel for 62 genes) Panel

Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Usher syndrome (NGS panel for 12 genes) Panel

Usher syndrome type 1D/F (deletion/duplication analysis on PCDH15 gene) Panel

Usher syndrome type 1D/F (deletion/duplication analysis on PCDH15 gene) Panel

Usher Syndrome Sequencing Panel with CNV Detection Panel

Usher Syndrome Type 1 and Deafness, Autosomal Recessive 23 (DFNB23) via PCDH15 Gene Sequencing with CNV Detection Panel

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

Usher 1 Panel Panel

DFNB23 Nonsyndromic Hearing Loss and Deafness Panel

Usher Syndrome Type 1F Panel

Ashkenazi panel (advanced) Panel

Usher syndrome type 1D/F Panel

Deafness, non-syndromic sensorineural AR panel Panel

Deafness, autosomal recessive type 23 Panel

Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel

Syndromic Hearing Loss Panel Panel

Usher Syndrome Panel Panel

Usher Syndrome Panel

Ashkenazi Jewish diseases Panel

Sensorineural Hearing Loss Panel

Eye diseases comprehensive panel Panel

Cardiovascular Diseases_General Panel Panel

Dyslipidemias / Early atherosclerosis Panel

Primary familial hypertriglyceridemias Panel

Retinal Dystrophy Panel Panel