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


Potential gene panels for AK7 gene

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

United States.

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 panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection Panel

United States.

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 panel

Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection Panel

United States.

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 panel

AK7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AK7 gene.

More info about this panel


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