PDZD7 gene related symptoms and diseases

All the information presented here about the PDZD7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, 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 PDZD7 gene

Symptoms // Phenotype	% Cases
Blindness	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
Mild hearing impairment	Common - Between 50% and 80% cases
Sensorineural hearing impairment	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PDZD7 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Nyctalopia
Severe hearing impairment
Not very common - Between 30% and 50% cases
Vestibular dysfunction
Congenital sensorineural hearing impairment
Depressivity
Severe sensorineural hearing impairment
Rarely - Less than 30% cases
Hemianopia
Bilateral sensorineural hearing impairment

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PDZD7 gene

Here you will find a list of rare diseases related to the PDZD7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

USHER SYNDROME TYPE 2

Alternate names

USHER SYNDROME TYPE 2 Is also known as ush2

Description

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

Most common symptoms of USHER SYNDROME TYPE 2

Hearing impairment
Ataxia
Nystagmus
Sensorineural hearing impairment
Cataract

More info about USHER SYNDROME TYPE 2

SOURCES: ORPHANET OMIM

USHER SYNDROME, TYPE IIA; USH2A

Description

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See {276900} for clinical characterization of Usher syndrome types I, II, and III. Genetic Heterogeneity of Usher Syndrome Type IIUsher syndrome type II is genetically heterogeneous. USH2C (OMIM ) can be caused by mutation in the ADGRV1 gene (OMIM ) or by biallelic digenic mutation in the ADGRV1 and PDZD7 (OMIM ) genes. USH2D (OMIM ) is caused by mutation in the WHRN gene (OMIM ).The locus designation USH2B has been withdrawn; see HISTORY.

Most common symptoms of USHER SYNDROME, TYPE IIA; USH2A

Hearing impairment
Sensorineural hearing impairment
Blindness
Depressivity
Rod-cone dystrophy

More info about USHER SYNDROME, TYPE IIA; USH2A

SOURCES: OMIM

USHER SYNDROME, TYPE IIC; USH2C

Description

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

Most common symptoms of USHER SYNDROME, TYPE IIC; USH2C

Hearing impairment
Blindness
Rod-cone dystrophy
Congenital sensorineural hearing impairment
Severe hearing impairment

More info about USHER SYNDROME, TYPE IIC; USH2C

SOURCES: OMIM MESH

DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57

Description

Autosomal recessive deafness-57 is characterized by symmetric bilateral moderate to severe hearing loss, represented by gently downward-sloping audiograms. The hearing loss may be mildly progressive (Guan et al., 2018).

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57

Hearing impairment
Sensorineural hearing impairment
Blindness
Nyctalopia
Retinal degeneration

More info about DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57

SOURCES: OMIM

Search interest in PDZD7

Potential gene panels for PDZD7 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

PDZD7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PDZD7 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to PDZD7 gene

USHER SYNDROME TYPE 2

Alternate names

Description

Most common symptoms of USHER SYNDROME TYPE 2

USHER SYNDROME, TYPE IIA; USH2A

Description

Most common symptoms of USHER SYNDROME, TYPE IIA; USH2A

USHER SYNDROME, TYPE IIC; USH2C

Description

Most common symptoms of USHER SYNDROME, TYPE IIC; USH2C

DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57

Description

Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 57; DFNB57

Search interest in PDZD7

Potential gene panels for PDZD7 gene

MitoMet®Plus aCGH Analysis Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

OtoSCOPE Panel

Hearing Loss Panel Panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

Audiome (hearing loss panel) Panel

Syndromic deafness (NGS panel for 62 genes) Panel

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

Usher syndrome (NGS panel for 12 genes) Panel

Usher Syndrome Sequencing Panel with CNV Detection Panel

Usher Syndrome Type 2C and Deafness, Autosomal Recessive 57 (DFNB57) via PDZD7 Gene Sequencing with CNV Detection Panel

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

Syndromic Hearing Loss Panel Panel

Usher Syndrome Panel Panel

Usher Syndrome Panel

Sensorineural Hearing Loss Panel

Eye diseases comprehensive panel Panel

Retinal Dystrophy Panel Panel

MVL Vision Panel Panel

Usher Syndrome: Sequencing Panel Panel

Eye Disorders: Deletion/Duplication Panel Panel

Hearing Loss NGS Panel Panel

Usher Syndrome NGS Panel Panel

PDZD7 Panel

Comprehensive Hearing Loss and Deafness Panel Panel

Retinal Dystrophy Panel Panel

Usher Syndrome Panel Panel

Syndromic Hearing Loss Panel Panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

USHER SYNDROME NGS PANEL Panel

Usher Syndrome and Nonsyndromic Deafness , Panel Massive Sequencing (NGS) 18 Genes Panel