Spermatogenic Failure 6; Spgf6

Description

Spermatogenic failure-6 is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997).For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Spermatogenic Failure 6; Spgf6

  • Infertility
  • Male infertility
  • Abnormal sperm morphology
  • Globozoospermia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Spermatogenic Failure 6; Spgf6 Is also known as globozoospermia, acrosome malformation of spermatozoa, spermatozoa, round-headed, round-headed spermatozoa.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Spermatogenic Failure 6; Spgf6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SPATA16. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SPATA16
Specificity
100 %
Genes
100 %
Spermatogenic failure 6 (SPGF6, sequence analysis of SPATA16 gene).

By CGC Genetics (Portugal).

SPATA16
Specificity
100 %
Genes
100 %
Globozoospermia via SPATA16 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPATA16
Specificity
100 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
SPGF6.

By Centogene AG - the Rare Disease Company (Germany).

SPATA16
Specificity
100 %
Genes
100 %
SPATA16.

By Fulgent Genetics Fulgent Genetics (United States).

SPATA16
Specificity
100 %
Genes
100 %
Male Infertility due to Globozoospermia , Sequencing SPATA16.

By Reference Laboratory Genetics (Spain).

SPATA16
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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