SPGF6
MCID: SPR041
MIFTS: 31

Spermatogenic Failure 6 (SPGF6)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 6

MalaCards integrated aliases for Spermatogenic Failure 6:

Name: Spermatogenic Failure 6 58 12 76
Globozoospermia 58 39 54 26 76 38 30 13 56 6
Acrosome Malformation of Spermatozoa 58 26 76
Round-Headed Spermatozoa 58 26 76
Spermatogenic Failure 9 54 26 74
Spgf6 58 12 76
Male Infertility Due to Round-Headed Spermatozoa 54
Mae Infertility Due to Round-Headed Spermatozoa 54
Male Infertility Due to Globozoospermia 54
Spermatogenic Failure, Type 6 41
Round-Headed Sperm Syndrome 54
Spermatozoa, Round-Headed 58
Globozoospermia, Complete 54
Globozoospermia, Total 54
Spgf9 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)


HPO:

33
spermatogenic failure 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070167
OMIM 58 102530
KEGG 38 H01208
MeSH 45 D007248
MedGen 43 C0403825
UMLS 74 C3151407

Summaries for Spermatogenic Failure 6

NIH Rare Diseases : 54 Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.

MalaCards based summary : Spermatogenic Failure 6, also known as globozoospermia, is related to spermatogenic failure 9 and male infertility with teratozoospermia due to single gene mutation. An important gene associated with Spermatogenic Failure 6 is SPATA16 (Spermatogenesis Associated 16). Affiliated tissues include Testis, and related phenotypes are infertility and globozoospermia

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has material basis in mutation in the SPATA16 gene on chromosome 3q26.

Genetics Home Reference : 26 Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).

OMIM : 58 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 (258150). (102530)

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 6: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.

Related Diseases for Spermatogenic Failure 6

Graphical network of the top 20 diseases related to Spermatogenic Failure 6:



Diseases related to Spermatogenic Failure 6

Symptoms & Phenotypes for Spermatogenic Failure 6

Human phenotypes related to Spermatogenic Failure 6:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 HP:0000789
2 globozoospermia 33 HP:0012205

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
abnormal sperm morphology
oligoasthenoteratozoospermia
globozoospermia, total
reduced or absent acrosin in the acrosome

Clinical features from OMIM:

102530

MGI Mouse Phenotypes related to Spermatogenic Failure 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 8.8 ACR CSNK2A2 SPATA16

Drugs & Therapeutics for Spermatogenic Failure 6

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 6

Genetic Tests for Spermatogenic Failure 6

Genetic tests related to Spermatogenic Failure 6:

# Genetic test Affiliating Genes
1 Globozoospermia 30 SPATA16

Anatomical Context for Spermatogenic Failure 6

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spermatogenic Failure 6:
# Tissue Anatomical CompartmentCell Relevance
1 Testis Seminiferous Tubules Elongated Spermatid Affected by disease

Publications for Spermatogenic Failure 6

Articles related to Spermatogenic Failure 6:

(show top 50) (show all 69)
# Title Authors Year
1
An Overview of The Globozoospermia as A Multigenic Identified Syndrome. ( 30291685 )
2019
2
A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection. ( 30324675 )
2019
3
Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion. ( 29339016 )
2018
4
Intracytoplasmic Sperm Injection with Assisted Oocyte Activation Resulting in Successful Pregnancies and Live Birth in Couples with Globozoospermia: A Report of Two Cases. ( 29681719 )
2018
5
Embryos derived from couples with consanguineous marriages with globozoospermia should be screened for gender or DPY19L2 deletion. ( 30584989 )
2018
6
Association between total globozoospermia and sperm chromatin defects. ( 28660655 )
2018
7
Sperm chromatin quality and DNA integrity in partial versus total globozoospermia. ( 28517043 )
2018
8
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. ( 29065458 )
2017
9
Dynamic of contribution of UBPy-sorted cargo to acrosome biogenesis: effects of its derailment in a mouse model of globozoospermia, the infertile Vps54 (L967Q) mutant. ( 28299521 )
2017
10
Decreased fertilization seen in globozoospermia can be overcome with a modified ICSI technique in both IVF and IVM cycles. ( 28116890 )
2017
11
Globozoospermia and lack of acrosome formation in GM130-deficient mice. ( 28055014 )
2017
12
Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping. ( 27441053 )
2016
13
Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. ( 26516168 )
2016
14
Different outcomes after intracytoplasmic sperm injection without oocyte activation in two patients with different types of globozoospermia. ( 25737298 )
2016
15
Mfsd14a (Hiat1) gene disruption causes globozoospermia and infertility in male mice. ( 27107036 )
2016
16
Sperm parameters, protamine deficiency, and apoptosis in total globozoospermia. ( 26568752 )
2015
17
Ultrastructural Morphology of Sperm from Human Globozoospermia. ( 26436098 )
2015
18
Comprehensive investigation in patients affected by globozoospermia. ( 26418511 )
2015
19
Intracytoplasmic Sperm Injection Fertilization Rate Does Not Depend on the Proportion of Round-headed Sperm, Small-acrosomal Sperm, or Morphologically Normal Sperm in Patients with Partial Globozoospermia. ( 26063359 )
2015
20
A successful healthy childbirth in a case of total globozoospermia with oocyte activation by calcium ionophore. ( 25927030 )
2015
21
Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia. ( 25762640 )
2015
22
Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia. ( 25755131 )
2015
23
Globozoospermia syndrome: two case reports. ( 25306801 )
2014
24
Pathoproteomics of testicular tissue deficient in the GARP component VPS54: the wobbler mouse model of globozoospermia. ( 24115398 )
2014
25
Total globozoospermia associated with increased frequency of immature spermatozoa with chromatin defects and aneuploidy: a case report. ( 24007278 )
2014
26
A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia. ( 24265589 )
2013
27
DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. ( 23512994 )
2013
28
Sperm cephalic vacuoles: new arguments for their non acrosomal origin in two cases of total globozoospermia. ( 23258630 )
2013
29
Molecular cytogenetic and genetic aspects of globozoospermia: a review. ( 22571172 )
2013
30
Re: Molecular cytogenetic and genetic aspects of globozoospermia: a review. ( 23141272 )
2012
31
SPACA1-deficient male mice are infertile with abnormally shaped sperm heads reminiscent of globozoospermia. ( 22949614 )
2012
32
Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus. ( 22764053 )
2012
33
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. ( 22653751 )
2012
34
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. ( 22627659 )
2012
35
Acrosomal biogenesis in human globozoospermia: immunocytochemical, ultrastructural and proteomic studies. ( 22511613 )
2012
36
Intracytoplasmic sperm injection in partial globozoospermia. ( 22088207 )
2012
37
Failure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant. ( 21866276 )
2011
38
Successful childbirth after intracytoplasmic morphologically selected sperm injection without assisted oocyte activation in a patient with globozoospermia. ( 21857011 )
2011
39
DPY19L2 deletion as a major cause of globozoospermia. ( 21397063 )
2011
40
Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. ( 21310465 )
2011
41
Hsp90β1 knockout targeted to male germline: a mouse model for globozoospermia. ( 21208614 )
2011
42
Morphology of partial globozoospermia. ( 20864651 )
2011
43
Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. ( 21126136 )
2010
44
A newly discovered mutation in PICK1 in a human with globozoospermia. ( 20562896 )
2010
45
Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancy. ( 20133201 )
2010
46
Successful pregnancies and a live birth after intracytoplasmic sperm injection in globozoospermia. ( 19881154 )
2009
47
Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. ( 18097531 )
2008
48
Globozoospermia revisited. ( 17008355 )
2007
49
Globozoospermia: is there a role for varicocele repair? ( 17460092 )
2007
50
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. ( 17847006 )
2007

Variations for Spermatogenic Failure 6

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 6:

76
# Symbol AA change Variation ID SNP ID
1 SPATA16 p.Arg283Gln VAR_038334 rs137853118

ClinVar genetic disease variations for Spermatogenic Failure 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPATA16 NM_031955.5(SPATA16): c.848G> A (p.Arg283Gln) single nucleotide variant Pathogenic rs137853118 GRCh38 Chromosome 3, 173019486: 173019486
2 SPATA16 NM_031955.5(SPATA16): c.848G> A (p.Arg283Gln) single nucleotide variant Pathogenic rs137853118 GRCh37 Chromosome 3, 172737276: 172737276

Expression for Spermatogenic Failure 6

Search GEO for disease gene expression data for Spermatogenic Failure 6.

Pathways for Spermatogenic Failure 6

GO Terms for Spermatogenic Failure 6

Biological processes related to Spermatogenic Failure 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 8.62 CSNK2A2 SPATA16

Sources for Spermatogenic Failure 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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