SPGF9
MCID: SPR043
MIFTS: 41

Spermatogenic Failure 9 (SPGF9)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 9

MalaCards integrated aliases for Spermatogenic Failure 9:

Name: Spermatogenic Failure 9 56 12 73 29 13 6 15 71
Spgf9 56 73
Male Infertility Due to Round-Headed Spermatozoa 12
Male Infertility Due to Globozoospermia 12
Spermatogenic Failure, Type 9 39
Globozoospermia, Complete 56
Globozoospermia Complete 73
Globozoospermia, Total 56
Globozoospermia Total 73
Globozoospermia 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111156
OMIM 56 613958
OMIM Phenotypic Series 56 PS258150
MeSH 43 D007248
MedGen 41 C3151407
SNOMED-CT via HPO 68 236818008 258211005
UMLS 71 C3151407

Summaries for Spermatogenic Failure 9

OMIM : 56 Spermatogenic failure-9 is associated with globozoospermia, a rare phenotype of primary male infertility characterized by the production of a majority of round-headed spermatozoa without an acrosome (summary by Harbuz et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (613958)

MalaCards based summary : Spermatogenic Failure 9, also known as spgf9, is related to spermatogenic failure 6 and infertility. An important gene associated with Spermatogenic Failure 9 is DPY19L2 (Dpy-19 Like 2). The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include testis and testes, and related phenotypes are globozoospermia and cellular

Disease Ontology : 12 A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has material basis in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 9: 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 9

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43

Diseases related to Spermatogenic Failure 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 6 32.5 SPATA16 PICK1 GOPC DPY19L2 CSNK2A2
2 infertility 31.1 SPATA16 PLCZ1 EPPIN DPY19L2 AURKC
3 male infertility 30.9 SPATA16 PLCZ1 PICK1 EPPIN DPY19L2 AURKC
4 male infertility with teratozoospermia due to single gene mutation 11.2
5 varicocele 10.4
6 polykaryocytosis inducer 10.3
7 partial deletion of y 10.3
8 atrophy of prostate 10.2 SPACA1 EPPIN
9 oligoasthenoteratozoospermia 10.1 SPATA16 SPACA1
10 spermatogenic failure 3 10.1
11 azoospermia 10.1
12 oligospermia 10.1
13 chromosomal triplication 10.1
14 rapidly involuting congenital hemangioma 10.1
15 spermatogenic failure 5 10.1 SPATA16 PICK1 DPY19L2 AURKC
16 spermatogenic failure, x-linked, 1 10.0 SPATA16 EPPIN
17 spermatogenic failure 16 10.0 SUN5 SPAG4 DPY19L2

Graphical network of the top 20 diseases related to Spermatogenic Failure 9:



Diseases related to Spermatogenic Failure 9

Symptoms & Phenotypes for Spermatogenic Failure 9

Human phenotypes related to Spermatogenic Failure 9:

31
# Description HPO Frequency HPO Source Accession
1 globozoospermia 31 HP:0012205

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
globozoospermia
normal or near-normal sperm counts

Clinical features from OMIM:

613958

MGI Mouse Phenotypes related to Spermatogenic Failure 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 AGFG1 CSNK2A2 DPY19L2 GBA2 GOPC PICK1
2 reproductive system MP:0005389 9.5 AGFG1 AURKC CSNK2A2 DPY19L2 GBA2 GOPC

Drugs & Therapeutics for Spermatogenic Failure 9

Drugs for Spermatogenic Failure 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones
2 Pharmaceutical Solutions
3 Ionophores
4 Calcium, Dietary
5 Ionomycin
6 Calcium Ionophores
7
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Calcium Ionophore Solution on Fertilization Rate During ICSI Cycles of Poor Ovarian Reserve Patients Unknown status NCT02045914
2 COMPARISON BETWEEN IMSI AND ICSI TECHNIQUES WITH DONATED EGGS Completed NCT01316705

Search NIH Clinical Center for Spermatogenic Failure 9

Genetic Tests for Spermatogenic Failure 9

Genetic tests related to Spermatogenic Failure 9:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 9 29 DPY19L2

Anatomical Context for Spermatogenic Failure 9

MalaCards organs/tissues related to Spermatogenic Failure 9:

40
Testis, Testes

Publications for Spermatogenic Failure 9

Articles related to Spermatogenic Failure 9:

(show top 50) (show all 193)
# Title Authors PMID Year
1
DPY19L2 deletion as a major cause of globozoospermia. 56 6 61
21397063 2011
2
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 56 6 61
21397064 2011
3
Evaluation and treatment of familial globozoospermia in five brothers. 6 56 61
15533374 2004
4
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. 6 61
22653751 2012
5
Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. 61
32312381 2020
6
Corrigendum to: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. 61
32389181 2020
7
The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis. 61
32156700 2020
8
Knockout of serine-rich single-pass membrane protein 1 (Ssmem1) causes globozoospermia and sterility in male mice. 61
32301969 2020
9
Assisted oocyte activation with calcium ionophore 44 hours after intracytoplasmic sperm injection resulting in successful pregnancy. 61
32241192 2020
10
[Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia]. 61
32219831 2020
11
Globozoospermia syndrome: An update. 61
31724759 2020
12
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. 61
31985809 2020
13
Comparison of Human Oocyte Activation Between Round-Headed Sperm Injection Followed by Calcium Ionophore Treatment and Normal Sperm Injection in a Patient With Globozoospermia. 61
32318024 2020
14
Toward Development of the Male Pill: A Decade of Potential Non-hormonal Contraceptive Targets. 61
32161754 2020
15
Proteomic Analysis of Dpy19l2-Deficient Human Globozoospermia Reveals Multiple Molecular Defects. 61
31424156 2019
16
Proteomic Research of Molecular Defects in Globozoospermia. 61
31642202 2019
17
New insights into sperm with total globozoospermia: Increased fatty acid oxidation and centrin1 alteration. 61
31204846 2019
18
Reduction of truncated Kit Expression in Men with Abnormal Semen Parameters, Globozoospermia and History of Low or Fertilization Failure. 61
31210438 2019
19
Reasons that should prompt a referral to a reproductive urologist: guidelines for the gynecologist and reproductive endocrinologist. 61
31723937 2019
20
Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. 61
30912172 2019
21
Embryos derived from couples with consanguineous marriages with globozoospermia should be screened for gender or DPY19L2 deletion. 61
30584989 2019
22
Increase of germ cell nuclear factor expression in globozoospermic Gopc-/- knockout mice. 61
30786176 2019
23
A homozygous RNF220 mutation leads to male infertility with small-headed sperm. 61
30500349 2019
24
A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection. 61
30324675 2019
25
Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. 61
30333325 2019
26
An Overview of The Globozoospermia as A Multigenic Identified Syndrome. 61
30291685 2019
27
Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization. 61
30653527 2019
28
Artificial oocyte activation with calcium ionophore for frozen sperm cycles. 61
29620419 2018
29
Artificial oocyte activation with SrCl2 or calcimycin after ICSI improves clinical and embryological outcomes compared with ICSI alone: results of a randomized clinical trial. 61
30099496 2018
30
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. 61
29991750 2018
31
Obstetric and neonatal outcome following ICSI with assisted oocyte activation by calcium ionophore treatment. 61
29392515 2018
32
Prediction of male infertility by the World Health Organization laboratory manual for assessment of semen analysis: A systematic review. 61
29713540 2018
33
Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion. 61
29339016 2018
34
Association between total globozoospermia and sperm chromatin defects. 61
28660655 2018
35
Sperm chromatin quality and DNA integrity in partial versus total globozoospermia. 61
28517043 2018
36
Intracytoplasmic Sperm Injection with Assisted Oocyte Activation Resulting in Successful Pregnancies and Live Birth in Couples with Globozoospermia: A Report of Two Cases. 61
29681719 2018
37
DNAH6 is a novel candidate gene associated with sperm head anomaly. 61
29356036 2018
38
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients. 61
28882431 2017
39
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. 61
29065458 2017
40
[Mutation analysis and treatment of a case with globozoospermia]. 61
28981950 2017
41
Essential role for SUN5 in anchoring sperm head to the tail. 61
28945193 2017
42
Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017. 61
28692759 2017
43
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. 61
28299521 2017
44
Loss of the Na+/H+ exchanger NHE8 causes male infertility in mice by disrupting acrosome formation. 61
28476888 2017
45
Decreased fertilization seen in globozoospermia can be overcome with a modified ICSI technique in both IVF and IVM cycles. 61
28116890 2017
46
Genetic abnormalities leading to qualitative defects of sperm morphology or function. 61
27779748 2017
47
Sirt1 regulates acrosome biogenesis by modulating autophagic flux during spermiogenesis in mice. 61
28003215 2017
48
Globozoospermia and lack of acrosome formation in GM130-deficient mice. 61
28055014 2017
49
[Routine semen parameters and sperm morphological index of infertile males with partial globozoospermia]. 61
29658238 2017
50
Towards defining an 'origin'-The case for the mammalian acrosome. 61
26775129 2016

Variations for Spermatogenic Failure 9

ClinVar genetic disease variations for Spermatogenic Failure 9:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPY19L2 NC_000012.12:g.(?_63558913)_(63669201_?)deldeletion Pathogenic 31083 12:63952693-64062354 12:63558913-63669201
2 DPY19L2 NM_173812.5(DPY19L2):c.869G>A (p.Arg290His)SNV Pathogenic 101504 rs147579680 12:64017904-64017904 12:63624124-63624124
3 DPY19L2 NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter)SNV Pathogenic 101505 rs587777205 12:63963092-63963092 12:63569312-63569312
4 DPY19L2 NM_173812.5(DPY19L2):c.1183del (p.Ser395fs)deletion Pathogenic 101506 rs751879424 12:64011119-64011119 12:63617339-63617339
5 DPY19L2 NG_031909.1:g.(12232_26209)_(29173_47048)deldeletion Pathogenic 101507
6 DPY19L2 NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys)SNV Pathogenic 101508 rs587777206 12:64017881-64017881 12:63624101-63624101
7 DPY19L2 NM_173812.5(DPY19L2):c.1218+1G>ASNV Pathogenic 101509 rs868256749 12:64011083-64011083 12:63617303-63617303

Expression for Spermatogenic Failure 9

Search GEO for disease gene expression data for Spermatogenic Failure 9.

Pathways for Spermatogenic Failure 9

GO Terms for Spermatogenic Failure 9

Cellular components related to Spermatogenic Failure 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.85 VPS54 SUN5 SPATA16 PICK1 GOPC GBA2
2 acrosomal vesicle GO:0001669 9.43 ZPBP SPACA1 CSNK2A2
3 acrosomal membrane GO:0002080 9.32 ZPBP SPACA1
4 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.16 SUN5 SPAG4
5 nuclear inner membrane GO:0005637 9.1 SUN5 SPAG4 DPY19L4 DPY19L3 DPY19L2 DPY19L1
6 sperm head GO:0061827 8.96 WBP2NL PLCZ1

Biological processes related to Spermatogenic Failure 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.88 SUN5 SPATA16 SPAG4 DPY19L2 CCIN AGFG1
2 spermatogenesis GO:0007283 9.61 SUN5 SPATA16 SPAG4 SPACA1 DPY19L2 CSNK2A2
3 nuclear envelope organization GO:0006998 9.43 SUN5 SPAG4
4 spermatid nucleus differentiation GO:0007289 9.37 GOPC AGFG1
5 acrosome assembly GO:0001675 9.33 ZPBP SPACA1 AGFG1
6 cytoskeletal anchoring at nuclear membrane GO:0090286 9.32 SUN5 SPAG4
7 egg activation GO:0007343 9.26 WBP2NL PLCZ1
8 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan GO:0018406 8.92 DPY19L4 DPY19L3 DPY19L2 DPY19L1

Molecular functions related to Spermatogenic Failure 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 GBA2 DPY19L4 DPY19L3 DPY19L2 DPY19L1 CSNK2A2
2 transferase activity, transferring glycosyl groups GO:0016757 9.35 GBA2 DPY19L4 DPY19L3 DPY19L2 DPY19L1
3 protein membrane anchor GO:0043495 9.16 SUN5 SPAG4
4 mannosyltransferase activity GO:0000030 8.92 DPY19L4 DPY19L3 DPY19L2 DPY19L1

Sources for Spermatogenic Failure 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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