CFAP43 gene related symptoms and diseases

All the information presented here about the CFAP43 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CFAP43 gene

Symptoms // Phenotype % Cases
Infertility Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases
Ciliary dyskinesia Uncommon - Between 30% and 50% cases
Reduced sperm motility Uncommon - Between 30% and 50% cases

Rare diseases associated to CFAP43 gene

Here you will find a list of rare diseases related to the CFAP43. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPERMATOGENIC FAILURE 19; SPGF19


Description

Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Most common symptoms of SPERMATOGENIC FAILURE 19; SPGF19

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Reduced sperm motility


More info about SPERMATOGENIC FAILURE 19; SPGF19

SOURCES: OMIM

NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER


Alternate names

NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER Is also known as non-syndromic male infertility due asthenozoospermia

Description

Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.


More info about NON-SYNDROMIC MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER

SOURCES: ORPHANET


Potential gene panels for CFAP43 gene

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

CFAP43 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CFAP43 gene.

More info about this panel


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