SPGF9
MCID: SPR043
MIFTS: 40

Spermatogenic Failure 9 (SPGF9)

Categories: Gastrointestinal diseases, 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 73 29 13 6 15 71
Male Infertility Due to Round-Headed Spermatozoa 12 58
Male Infertility Due to Globozoospermia 12 58
Spgf9 57 73
Spermatogenic Failure, Type 9 39
Round-Headed Sperm Syndrome 58
Globozoospermia, Complete 57
Globozoospermia Complete 73
Globozoospermia, Total 57
Globozoospermia Total 73
Globozoospermia 12

Characteristics:

Orphanet epidemiological data:

58
male infertility due to globozoospermia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 9:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0111156
OMIM® 57 613958
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
ICD10 via Orphanet 33 N46
Orphanet 58 ORPHA171709
MedGen 41 C3151407
SNOMED-CT via HPO 68 236818008 258211005
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 9, also known as male infertility due to round-headed spermatozoa, is related to spermatogenic failure 6 and infertility. An important gene associated with Spermatogenic Failure 9 is DPY19L2 (Dpy-19 Like 2). The drugs Adenosine and Hormones have been mentioned in the context of this disorder. 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
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 6 32.6 SPATA16 CSNK2A2
2 infertility 31.2 SPATA16 PLCZ1 EPPIN DPY19L2 AURKC
3 male infertility 31.2 SPATA16 PLCZ1 PICK1 EPPIN DPY19L2 AURKC
4 male infertility with teratozoospermia due to single gene mutation 10.9
5 atrophy of prostate 10.3 SPACA1 EPPIN
6 spermatogenic failure 5 10.3 SPATA16 PICK1 DPY19L2 AURKC
7 spermatogenic failure 16 10.3 SUN5 SPAG4 DPY19L2
8 oligoasthenoteratozoospermia 10.2 SPATA16 SPACA1
9 varicocele 10.1
10 spermatogenic failure, x-linked, 1 10.1 SPATA16 EPPIN
11 polykaryocytosis inducer 10.0
12 partial deletion of y 10.0
13 spermatogenic failure 3 9.9
14 azoospermia 9.9
15 oligospermia 9.9
16 chromosomal triplication 9.9
17 rapidly involuting congenital hemangioma 9.9
18 spermatogenic failure 50 9.4 ZPBP WBP2NL VPS54 SUN5 SPATA16 SPAG4

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®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
globozoospermia
normal or near-normal sperm counts

Clinical features from OMIM®:

613958 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Spermatogenic Failure 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 AGFG1 CSNK2A2 DPY19L2 GBA2 GOPC PICK1
2 endocrine/exocrine gland MP:0005379 9.56 CSNK2A2 DPY19L1 DPY19L2 GBA2 PICK1 SPATA16
3 reproductive system MP:0005389 9.53 AGFG1 AURKC CSNK2A2 DPY19L1 DPY19L2 GBA2

Drugs & Therapeutics for Spermatogenic Failure 9

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2 Hormones Phase 4
3 Ionophores Phase 4
4 Calcium, Dietary Phase 4
5 Calcium Ionophores Phase 4
6
Calcium Nutraceutical Phase 4 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assisted Oocyte Activation (AOA) in Recurrent Fertilization Failure Completed NCT04744753 Phase 4 Calcium Ionophore A23187

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

Publications for Spermatogenic Failure 9

Articles related to Spermatogenic Failure 9:

# Title Authors PMID Year
1
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 6 57
21397064 2011
2
DPY19L2 deletion as a major cause of globozoospermia. 6 57
21397063 2011
3
Evaluation and treatment of familial globozoospermia in five brothers. 57 6
15533374 2004
4
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. 6
22653751 2012
5
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. 6
17847006 2007
6
Genetic aspects of monomorphic teratozoospermia: a review. 61
25711835 2015
7
Molecular cytogenetic and genetic aspects of globozoospermia: a review. 61
22571172 2013
8
Chromosome 15 aneuploidy in the sperm and conceptus of a sibling with variable familial expression of round-headed sperm syndrome. 61
11730761 2001
9
Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. 61
10065790 1999

Variations for Spermatogenic Failure 9

ClinVar genetic disease variations for Spermatogenic Failure 9:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DPY19L2 NC_000012.12:g.(?_63558913)_(63669201_?)del Deletion 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)del Deletion 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>A SNV Pathogenic 101509 rs868256749 12:64011083-64011083 12:63617303-63617303
8 SPATA16 NM_031955.6(SPATA16):c.1513C>T (p.Leu505=) SNV Uncertain significance 344205 rs758141708 3:172631525-172631525 3:172913735-172913735
9 SPATA16 NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly) SNV Uncertain significance 344208 rs886058186 3:172642012-172642012 3:172924222-172924222
10 SPATA16 NM_031955.6(SPATA16):c.91A>T (p.Met31Leu) SNV Uncertain significance 344228 rs200087565 3:172835431-172835431 3:173117641-173117641
11 SPATA16 NM_031955.6(SPATA16):c.576C>T (p.Tyr192=) SNV Uncertain significance 344217 rs146363552 3:172834946-172834946 3:173117156-173117156
12 SPATA16 NM_031955.6(SPATA16):c.828G>A (p.Glu276=) SNV Uncertain significance 344214 rs776236874 3:172737296-172737296 3:173019506-173019506
13 SPATA16 NM_031955.6(SPATA16):c.995C>T (p.Ala332Val) SNV Uncertain significance 344211 rs544088248 3:172674553-172674553 3:172956763-172956763
14 SPATA16 NM_031955.6(SPATA16):c.430A>C (p.Met144Leu) SNV Uncertain significance 344220 rs140920981 3:172835092-172835092 3:173117302-173117302
15 SPATA16 NM_031955.6(SPATA16):c.105G>A (p.Ala35=) SNV Uncertain significance 344226 rs141312480 3:172835417-172835417 3:173117627-173117627
16 SPATA16 NM_031955.6(SPATA16):c.1401G>T (p.Gln467His) SNV Uncertain significance 344206 rs143774140 3:172634209-172634209 3:172916419-172916419
17 SPATA16 NM_031955.6(SPATA16):c.25T>C (p.Leu9=) SNV Uncertain significance 344229 rs150041488 3:172835497-172835497 3:173117707-173117707
18 SPATA16 NM_031955.6(SPATA16):c.-142G>A SNV Uncertain significance 344232 rs566046620 3:172859016-172859016 3:173141226-173141226
19 SPATA16 NM_031955.6(SPATA16):c.873G>A (p.Met291Ile) SNV Uncertain significance 344212 rs368670834 3:172694818-172694818 3:172977028-172977028
20 SPATA16 NM_031955.6(SPATA16):c.546T>C (p.Asp182=) SNV Uncertain significance 344218 rs886058187 3:172834976-172834976 3:173117186-173117186
21 SPATA16 NM_031955.6(SPATA16):c.104C>T (p.Ala35Val) SNV Uncertain significance 344227 rs200483368 3:172835418-172835418 3:173117628-173117628
22 SPATA16 NM_031955.6(SPATA16):c.328A>C (p.Met110Leu) SNV Uncertain significance 344222 rs147011314 3:172835194-172835194 3:173117404-173117404
23 SPATA16 NM_031955.6(SPATA16):c.1588-2A>G SNV Uncertain significance 631916 rs757711631 3:172607484-172607484 3:172889694-172889694
24 SPATA16 NM_031955.6(SPATA16):c.996G>A (p.Ala332=) SNV Uncertain significance 900276 3:172674552-172674552 3:172956762-172956762
25 SPATA16 NM_031955.6(SPATA16):c.750T>C (p.His250=) SNV Uncertain significance 900277 3:172766747-172766747 3:173048957-173048957
26 SPATA16 NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe) SNV Uncertain significance 790548 rs116466451 3:172766761-172766761 3:173048971-173048971
27 SPATA16 NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln) SNV Uncertain significance 900278 3:172766778-172766778 3:173048988-173048988
28 SPATA16 NM_031955.6(SPATA16):c.613-13A>G SNV Uncertain significance 901438 3:172766897-172766897 3:173049107-173049107
29 SPATA16 NM_031955.6(SPATA16):c.490C>T (p.His164Tyr) SNV Uncertain significance 901439 3:172835032-172835032 3:173117242-173117242
30 SPATA16 NM_031955.6(SPATA16):c.430A>G (p.Met144Val) SNV Uncertain significance 901440 3:172835092-172835092 3:173117302-173117302
31 SPATA16 NM_031955.6(SPATA16):c.*157C>T SNV Uncertain significance 901934 3:172607203-172607203 3:172889413-172889413
32 SPATA16 NM_031955.6(SPATA16):c.*138C>A SNV Uncertain significance 901935 3:172607222-172607222 3:172889432-172889432
33 SPATA16 NM_031955.6(SPATA16):c.*92A>G SNV Uncertain significance 901936 3:172607268-172607268 3:172889478-172889478
34 SPATA16 NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys) SNV Uncertain significance 902002 3:172835116-172835116 3:173117326-173117326
35 SPATA16 NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln) SNV Uncertain significance 902003 3:172835271-172835271 3:173117481-173117481
36 SPATA16 NM_031955.6(SPATA16):c.205A>G (p.Ile69Val) SNV Uncertain significance 902004 3:172835317-172835317 3:173117527-173117527
37 SPATA16 NM_031955.6(SPATA16):c.1503+15T>C SNV Uncertain significance 902835 3:172634092-172634092 3:172916302-172916302
38 SPATA16 NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg) SNV Uncertain significance 902836 3:172634221-172634221 3:172916431-172916431
39 SPATA16 NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp) SNV Uncertain significance 902837 3:172634249-172634249 3:172916459-172916459
40 SPATA16 NM_031955.6(SPATA16):c.117C>T (p.Asn39=) SNV Uncertain significance 902897 3:172835405-172835405 3:173117615-173117615
41 SPATA16 NM_031955.6(SPATA16):c.53A>G (p.His18Arg) SNV Uncertain significance 774303 rs115897458 3:172835469-172835469 3:173117679-173117679
42 SPATA16 NM_031955.6(SPATA16):c.-2C>T SNV Uncertain significance 902898 3:172835523-172835523 3:173117733-173117733
43 SPATA16 NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn) SNV Uncertain significance 344210 rs763912965 3:172643247-172643247 3:172925457-172925457
44 SPATA16 NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) SNV Uncertain significance 1411 rs137853118 3:172737276-172737276 3:173019486-173019486
45 SPATA16 NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr) SNV Likely benign 901937 3:172631461-172631461 3:172913671-172913671
46 SPATA16 NM_031955.6(SPATA16):c.-121G>A SNV Likely benign 344230 rs189972919 3:172858995-172858995 3:173141205-173141205
47 SPATA16 NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser) SNV Likely benign 344224 rs16846624 3:172835373-172835373 3:173117583-173117583
48 SPATA16 NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val) SNV Likely benign 344204 rs115095786 3:172631512-172631512 3:172913722-172913722
49 SPATA16 NM_031955.6(SPATA16):c.1365G>T (p.Val455=) SNV Likely benign 344207 rs199707743 3:172634245-172634245 3:172916455-172916455
50 SPATA16 NM_031955.6(SPATA16):c.1143A>G (p.Gln381=) SNV Likely benign 344209 rs73041295 3:172643221-172643221 3:172925431-172925431

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 acrosomal vesicle GO:0001669 9.43 ZPBP SPACA1 CSNK2A2
2 acrosomal membrane GO:0002080 9.32 ZPBP SPACA1
3 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.16 SUN5 SPAG4
4 nuclear inner membrane GO:0005637 9.02 SUN5 SPAG4 DPY19L3 DPY19L2 DPY19L1
5 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 9.8 SUN5 SPATA16 SPAG4 DPY19L2 CCIN AGFG1
2 nuclear envelope organization GO:0006998 9.37 SUN5 SPAG4
3 spermatogenesis GO:0007283 9.28 SUN5 SPATA16 SPAG4 SPACA1 DPY19L2 CSNK2A2
4 acrosome assembly GO:0001675 9.26 ZPBP SPACA1
5 egg activation GO:0007343 9.16 WBP2NL PLCZ1
6 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan GO:0018406 9.13 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, transferring glycosyl groups GO:0016757 9.26 GBA2 DPY19L3 DPY19L2 DPY19L1
2 protein membrane anchor GO:0043495 9.16 SUN5 SPAG4
3 mannosyltransferase activity GO:0000030 8.8 DPY19L3 DPY19L2 DPY19L1

Sources for Spermatogenic Failure 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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