TSPEAR gene related symptoms and diseases
All the information presented here about the TSPEAR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TSPEAR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Hypodontia | Uncommon - Between 30% and 50% cases |
| Oval face | Uncommon - Between 30% and 50% cases |
| Hypotrichosis of the scalp | Uncommon - Between 30% and 50% cases |
| Conical tooth | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TSPEAR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypohidrosis
- Hypertrichosis
- Ectodermal dysplasia
- Thick vermilion border
- Sensorineural hearing impairment
- Hypotrichosis
- Hyperhidrosis
- Downslanted palpebral fissures
And 4 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TSPEAR gene
Here you will find a list of rare diseases related to the TSPEAR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98
Description
This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012).
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98
- Hearing impairment
- Sensorineural hearing impairment
- Prelingual sensorineural hearing impairment
- Profound hearing impairment
More info about DEAFNESS, AUTOSOMAL RECESSIVE 98; DFNB98
SOURCES: OMIM
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).
Most common symptoms of ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14
- Abnormal facial shape
- Downslanted palpebral fissures
- Hyperhidrosis
- Hypotrichosis
- Thick vermilion border
More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14
SOURCES: OMIM
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 TSPEAR
Potential gene panels for TSPEAR 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.
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.
Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
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.
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panel Germany.
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.
TSPEAR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TSPEAR 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 RECESSIVE) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT