Spermatogenic Failure 5; Spgf5

Description

Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).

Clinical Features

Phenotypes and symptoms related to Spermatogenic Failure 5; Spgf5

  • Infertility
  • Male infertility
  • Functional abnormality of male internal genitalia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Spermatogenic Failure 5; Spgf5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spermatogenic failure 5 (SPGF5, sequence analysis of AURKC gene).

By CGC Genetics in Portugal.

AURKC
Specificity
100 %
Genes
100 %
Male Infertility with Large-Headed Spermatozoa via AURKC Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, ARL6, MKKS, TTC8, TRIM32, CYP11A1, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CYP17A1, HESX1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
SPGF5.

By Centogene AG - the Rare Disease Company in Germany.

AURKC
Specificity
100 %
Genes
100 %
AURKC.

By Fulgent Genetics Fulgent Genetics in United States.

AURKC
Specificity
100 %
Genes
100 %
Spermatogenic Failure , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

SYCP3, NR5A1, SPATA16, DPY19L2, AURKC, CATSPER1, KLHL10, SEPT12, USP9Y
Specificity
12 %
Genes
100 %
Phosphorus Male Infertility Panel.

By Phosphorus Diagnostics LLC in United States.

AR, CFTR, SRY, LHCGR, FSHR, FSHB, DPY19L2, AURKC, CATSPER1, USP9Y
Specificity
10 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Spermatogenic Failure 5; Spgf5 Is also known as male infertility with large-headed, multiflagellar, polyploid spermatozoa, infertility associated with multitailed spermatozoa and excessive dna;macrocephalic sperm head syndrome; male infertility due to macrozoospermia.


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