CATSPER2 gene related symptoms and diseases
All the information presented here about the CATSPER2 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.
Top 5 symptoms and clinical features associated to CATSPER2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Infertility | Very Common - Between 80% and 100% cases |
| Male infertility | Very Common - Between 80% and 100% cases |
| Reduced sperm motility | Very Common - Between 80% and 100% cases |
| Moderate hearing impairment | Uncommon - Between 30% and 50% cases |
| Abnormal spermatogenesis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CATSPER2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congenital hypoplastic anemia
- Anemia of inadequate production
- Progressive sensorineural hearing impairment
- Azoospermia
- Narrow palpebral fissure
- Bilateral sensorineural hearing impairment
- Synophrys
- Brachydactyly
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
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Rare diseases associated to CATSPER2 gene
Here you will find a list of rare diseases related to the CATSPER2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPERMATOGENIC FAILURE 7; SPGF7
Alternate names
SPERMATOGENIC FAILURE 7; SPGF7 Is also known as miar, male infertility, nonsyndromic, autosomal recessive
Most common symptoms of SPERMATOGENIC FAILURE 7; SPGF7
- Infertility
- Male infertility
- Oligospermia
- Reduced sperm motility
- Nonmotile sperm
More info about SPERMATOGENIC FAILURE 7; SPGF7
DEAFNESS-INFERTILITY SYNDROME
Alternate names
DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility, chromosome 15q15.3 deletion syndrome, dis
Description
Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.
Most common symptoms of DEAFNESS-INFERTILITY SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Low-set ears
More info about DEAFNESS-INFERTILITY SYNDROME
Search interest in CATSPER2
Potential gene panels for CATSPER2 gene
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 panelOtoSCOPE 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 panelOtoGenome 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 panelDeafness and male infertility (sequence analysis of CATSPER2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CATSPER2 gene.
More info about this panelAutosomal nonsyndromic male infertility Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CATSPER2 gene.
More info about this panelHearing 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 panelCATSPER2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CATSPER2 gene.
More info about this panelOtogenetics 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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PTHLH
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