DIAPH1 gene related symptoms and diseases
All the information presented here about the DIAPH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DIAPH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Poor speech | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Hypoplasia of the corpus callosum | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DIAPH1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Optic atrophy
- Visual impairment
- Microcephaly
- Generalized hypotonia
- Short stature
- Global developmental delay
- Seizures
- Low-frequency hearing loss
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DIAPH1 gene
Here you will find a list of rare diseases related to the DIAPH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME
Alternate names
DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME Is also known as konigsmark syndrome, deafness, autosomal dominant 1, with or without thrombocytopenia, diaph1-related sensorineural deafness-thrombocytopenia syndrome
Description
DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients may have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).
Most common symptoms of DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Anemia
- Edema
- Thrombocytopenia
More info about DIAPH1-RELATED SENSORINEURAL HEARING LOSS-THROMBOCYTOPENIA SYNDROME
PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME
Description
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.
Most common symptoms of PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PROGRESSIVE MICROCEPHALY-SEIZURES-CORTICAL BLINDNESS-DEVELOPMENTAL DELAY SYNDROME
Search interest in DIAPH1
Potential gene panels for DIAPH1 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.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
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.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
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 United States.
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Deafness, autosomal dominant 1 (sequence analysis of DIAPH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DIAPH1 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.
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8
More info about this panel United States.
Seizures, Cortical Blindness, Microcephaly Syndrome and Deafness, Autosomal Dominant 1 (DFNA1) via DIAPH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DIAPH1 gene.
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
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.
DFNA 1 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the DIAPH1 gene.
More info about this panel Germany.
Deafness, autosomal dominant type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DIAPH1 gene.
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.
DEAFNESS A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. that also includes the following genes: TECTA TJP2 WFS1 ACTG1 TMC1 CCDC50 SLC17A8 COCH COL11A2 MYH14
More info about this panel Spain.
DEAFNESS A.D. and A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
DIAPH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DIAPH1 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.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
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.
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH
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.
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