SPGF9
MCID: SPR043
MIFTS: 39

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 57 12 74 29 13 6 15 72
Spgf9 57 74
Male Infertility Due to Round-Headed Spermatozoa 12
Male Infertility Due to Globozoospermia 12
Spermatogenic Failure, Type 9 40
Globozoospermia, Complete 57
Globozoospermia Complete 74
Globozoospermia, Total 57
Globozoospermia Total 74
Globozoospermia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111156
MeSH 44 D007248
MedGen 42 C3151407
UMLS 72 C3151407

Summaries for Spermatogenic Failure 9

OMIM : 57 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 infertility and spermatogenic failure 6. An important gene associated with Spermatogenic Failure 9 is DPY19L2 (Dpy-19 Like 2). The drugs Calcium and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and testis, and related phenotypes are globozoospermia and Decreased viability

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 : 74 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

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 infertility 30.6 PLCZ1 DPY19L2 AURKC
2 spermatogenic failure 6 26.9 ZDBF2 SUN5 SPATA16 SPACA1 PLCZ1 PICK1
3 male infertility with teratozoospermia due to single gene mutation 11.2
4 male infertility 10.8
5 polykaryocytosis inducer 10.3
6 partial deletion of y 10.3
7 varicocele 10.1
8 azoospermia 10.1
9 oligospermia 10.1
10 chromosomal triplication 10.1
11 spermatogenic failure 5 9.1 SPATA16 PICK1 DPY19L2 AURKC

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:

32
# Description HPO Frequency HPO Source Accession
1 globozoospermia 32 HP:0012205

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
globozoospermia
normal or near-normal sperm counts

Clinical features from OMIM:

613958

GenomeRNAi Phenotypes related to Spermatogenic Failure 9 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.83 AURKC
2 Decreased viability GR00173-A 9.83 CSNK2A2
3 Decreased viability GR00221-A-1 9.83 CSNK2A2 PLCZ1
4 Decreased viability GR00221-A-2 9.83 CSNK2A2 PICK1
5 Decreased viability GR00221-A-3 9.83 AURKC PICK1 PLCZ1
6 Decreased viability GR00221-A-4 9.83 AURKC CSNK2A2 PICK1
7 Decreased viability GR00240-S-1 9.83 CSNK2A2
8 Decreased viability GR00301-A 9.83 AURKC PLCZ1
9 Decreased viability GR00342-S-1 9.83 AURKC
10 Decreased viability GR00381-A-1 9.83 AURKC
11 Decreased viability GR00402-S-2 9.83 AURKC CSNK2A2 PICK1 PLCZ1

MGI Mouse Phenotypes related to Spermatogenic Failure 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.5 CSNK2A2 DPY19L2 GOPC PICK1 SPACA1 SPATA16
2 reproductive system MP:0005389 9.23 AURKC CSNK2A2 DPY19L2 GOPC PICK1 PLCZ1

Drugs & Therapeutics for Spermatogenic Failure 9

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical 7440-70-2 271
2 Hormones
3 Pharmaceutical Solutions
4 Calcium, Dietary
5 Ionomycin
6 Ionophores
7 Bone Density Conservation Agents
8 Calcium Ionophores

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:

41
Bone, Testes, Testis

Publications for Spermatogenic Failure 9

Articles related to Spermatogenic Failure 9:

(show top 50) (show all 182)
# Title Authors PMID Year
1
DPY19L2 deletion as a major cause of globozoospermia. 38 8 71
21397063 2011
2
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 38 8 71
21397064 2011
3
Evaluation and treatment of familial globozoospermia in five brothers. 38 8 71
15533374 2004
4
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. 38 71
22653751 2012
5
Reduction of truncated Kit Expression in Men with Abnormal Semen Parameters, Globozoospermia and History of Low or Fertilization Failure. 38
31210438 2019
6
Proteomic Analysis of Dpy19l2-Deficient Human Globozoospermia Reveals Multiple Molecular Defects. 38
31424156 2019
7
Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. 38
30912172 2019
8
New insights into sperm with total globozoospermia: Increased fatty acid oxidation and centrin1 alteration. 38
31204846 2019
9
Embryos derived from couples with consanguineous marriages with globozoospermia should be screened for gender or DPY19L2 deletion. 38
30584989 2019
10
Increase of germ cell nuclear factor expression in globozoospermic Gopc-/- knockout mice. 38
30786176 2019
11
A homozygous RNF220 mutation leads to male infertility with small-headed sperm. 38
30500349 2019
12
Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. 38
30333325 2019
13
Assessment of sperm PAWP expression in infertile men. 38
30882161 2019
14
A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection. 38
30324675 2019
15
An Overview of The Globozoospermia as A Multigenic Identified Syndrome. 38
30291685 2019
16
Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization. 38
30653527 2019
17
Artificial oocyte activation with calcium ionophore for frozen sperm cycles. 38
29620419 2018
18
Artificial oocyte activation with SrCl2 or calcimycin after ICSI improves clinical and embryological outcomes compared with ICSI alone: results of a randomized clinical trial. 38
30099496 2018
19
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. 38
29991750 2018
20
Obstetric and neonatal outcome following ICSI with assisted oocyte activation by calcium ionophore treatment. 38
29392515 2018
21
Prediction of male infertility by the World Health Organization laboratory manual for assessment of semen analysis: A systematic review. 38
29713540 2018
22
Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion. 38
29339016 2018
23
Association between total globozoospermia and sperm chromatin defects. 38
28660655 2018
24
Sperm chromatin quality and DNA integrity in partial versus total globozoospermia. 38
28517043 2018
25
Intracytoplasmic Sperm Injection with Assisted Oocyte Activation Resulting in Successful Pregnancies and Live Birth in Couples with Globozoospermia: A Report of Two Cases. 38
29681719 2018
26
DNAH6 is a novel candidate gene associated with sperm head anomaly. 38
29356036 2018
27
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients. 38
28882431 2017
28
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. 38
29065458 2017
29
[Mutation analysis and treatment of a case with globozoospermia]. 38
28981950 2017
30
Essential role for SUN5 in anchoring sperm head to the tail. 38
28945193 2017
31
Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017. 38
28692759 2017
32
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. 38
28299521 2017
33
Loss of the Na+/H+ exchanger NHE8 causes male infertility in mice by disrupting acrosome formation. 38
28476888 2017
34
Sirt1 regulates acrosome biogenesis by modulating autophagic flux during spermiogenesis in mice. 38
28003215 2017
35
Genetic abnormalities leading to qualitative defects of sperm morphology or function. 38
27779748 2017
36
Decreased fertilization seen in globozoospermia can be overcome with a modified ICSI technique in both IVF and IVM cycles. 38
28116890 2017
37
[Routine semen parameters and sperm morphological index of infertile males with partial globozoospermia]. 38
29658238 2017
38
Globozoospermia and lack of acrosome formation in GM130-deficient mice. 38
28055014 2017
39
Towards defining an 'origin'-The case for the mammalian acrosome. 38
26775129 2016
40
[A control study of artificial oocyte activation in the same period]. 38
27903344 2016
41
The control of male fertility by spermatid-specific factors: searching for contraceptive targets from spermatozoon's head to tail. 38
27831554 2016
42
Multiple faces of protein interacting with C kinase 1 (PICK1): Structure, function, and diseases. 38
26970394 2016
43
Decreased Expression of KIFC1 in Human Testes with Globozoospermic Defects. 38
27690105 2016
44
Expression profile of PLCζ, PAWP, and TR-KIT in association with fertilization potential, embryo development, and pregnancy outcomes in globozoospermic candidates for intra-cytoplasmic sperm injection and artificial oocyte activation. 38
27089467 2016
45
Mfsd14a (Hiat1) gene disruption causes globozoospermia and infertility in male mice. 38
27107036 2016
46
Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping. 38
27441053 2016
47
A new mutation identified in SPATA16 in two globozoospermic patients. 38
27086357 2016
48
Different outcomes after intracytoplasmic sperm injection without oocyte activation in two patients with different types of globozoospermia. 38
25737298 2016
49
Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia. 38
26516168 2016
50
Evaluation of PLCζ and PAWP Expression in Globozoospermic Individuals. 38
27602326 2016

Variations for Spermatogenic Failure 9

ClinVar genetic disease variations for Spermatogenic Failure 9:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DPY19L2 DPY19L2, DEL deletion Pathogenic 12:63952693-64062354 12:63558913-63669201
2 DPY19L2 NM_173812.5(DPY19L2): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs147579680 12:64017904-64017904 12:63624124-63624124
3 DPY19L2 NM_173812.5(DPY19L2): c.2038A> T (p.Lys680Ter) single nucleotide variant Pathogenic rs587777205 12:63963092-63963092 12:63569312-63569312
4 DPY19L2 NM_173812.5(DPY19L2): c.1183del (p.Ser395fs) deletion Pathogenic rs751879424 12:64011119-64011119 12:63617339-63617339
5 DPY19L2 NG_031909.1: g.(12232_26209)_(29173_47048)del deletion Pathogenic
6 DPY19L2 NM_173812.5(DPY19L2): c.892C> T (p.Arg298Cys) single nucleotide variant Pathogenic rs587777206 12:64017881-64017881 12:63624101-63624101
7 DPY19L2 NM_173812.5(DPY19L2): c.1218+1G> A single nucleotide variant Pathogenic 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 nuclear inner membrane GO:0005637 8.62 SUN5 DPY19L2

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

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.1 SUN5 SPATA16 SPACA1 DPY19L2 CSNK2A2 AURKC
2 spermatid development GO:0007286 8.96 SUN5 DPY19L2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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