Spermatogenic Failure 6; Spgf6

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Spermatogenic Failure 6; Spgf6

SPATA16

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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.

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 Panel complete gene list SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX, ARL6, WDR11, SLC26A8, CBX2, SPRY4, PROKR2, SUN5, TRIM32, CATSPER1, IL17RD, ARX, SYCP3, PROK2, BBS7, KLHL10, CFTR, PLCZ1, TTC8, CHD7, ZMYND15, RSPO1, GALNTL5, LHX4, FEZF1, NANOS1, CFAP44, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, SEPT12, BBS12, CFAP43, CCDC141, DHH, SYCE1, DMRT1, DMRT2, DNAH1, NSMF, SPATA16, BBS9, DUSP6, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, GATA4, GNRH1, GNRHR, KISS1R, ADGRG2, AMH, AMHR2, HESX1, HFE, HS6ST1, HSD17B3, INSL3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, MAP3K1, MKKS, NPAS2, NR0B1, NR5A1, PCSK1, ATRX, AXL, POR, PICK1, PROP1, BBS1, BBS2, BBS4, BBS5 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 Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 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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