AK7 gene related symptoms and diseases
All the information presented here about the AK7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AK7 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 |
Rare diseases associated to AK7 gene
Here you will find a list of rare diseases related to the AK7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPERMATOGENIC FAILURE 27; SPGF27
Description
Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).
Most common symptoms of SPERMATOGENIC FAILURE 27; SPGF27
- Infertility
- Dyskinesia
- Ciliary dyskinesia
More info about SPERMATOGENIC FAILURE 27; SPGF27
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
Search interest in AK7
Potential gene panels for AK7 gene
Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10
More info about this panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 CFTR
More info about this panelPrimary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection that also includes the following genes: RPGR SPAG1 RSPH1 CFAP298 NME8 LRRC6 INVS CCNO DNAI2 ZMYND10
More info about this panelAK7 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AK7 gene.
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 CNNM2 GAS1 MBD5 SATB2 AMTN EPB41 CHST14