DIAPH3 gene related symptoms and diseases
All the information presented here about the DIAPH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DIAPH3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Peripheral neuropathy | Uncommon - Between 30% and 50% cases |
| Poor speech | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DIAPH3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Severe hearing impairment
- Abnormal auditory evoked potentials
- Absence of acoustic reflex
- Abnormal speech discrimination
Rare diseases associated to DIAPH3 gene
Here you will find a list of rare diseases related to the DIAPH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1
Alternate names
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 Is also known as auditory neuropathy, nonsyndromic dominant, nsdan
Description
Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.
Most common symptoms of AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Peripheral neuropathy
- Poor speech
More info about AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
Alternate names
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna
More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
SOURCES: ORPHANET
Search interest in DIAPH3
Potential gene panels for DIAPH3 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Autism Spectrum Disorders 53-Gene Panel Panel
United States.
By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
Auditory neuropathy 1 AD (sequence analysis of DIAPH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DIAPH3 gene.
More info about this panel Portugal.
Non syndromic deafness AD (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panel Portugal.
Auditory neuropathy, autosomal dominant, 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DIAPH3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Germany.
Sensorineural Hearing Loss Panel
Estonia.
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panel Estonia.
DIAPH3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DIAPH3 gene.
More info about this panel United States.
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 Finland.
Non-Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel Finland.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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 MUC4 PIGN