SPGF6
MCID: SPR041
MIFTS: 37

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 57 12 75
Globozoospermia 57 38 12 53 25 75 37 29 13 55 6 15
Male Infertility Due to Round-Headed Spermatozoa 12 53 59
Male Infertility Due to Globozoospermia 12 53 59
Acrosome Malformation of Spermatozoa 57 25 75
Round-Headed Spermatozoa 57 25 75
Spermatogenic Failure 9 53 25 73
Spgf6 57 12 75
Round-Headed Sperm Syndrome 53 59
Mae Infertility Due to Round-Headed Spermatozoa 53
Spermatogenic Failure, Type 6 40
Spermatozoa, Round-Headed 57
Globozoospermia, Complete 53
Globozoospermia, Total 53
Spgf9 53

Characteristics:

Orphanet epidemiological data:

59
male infertility due to globozoospermia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 6:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare infertility disorders


External Ids:

OMIM 57 102530
Disease Ontology 12 DOID:0070167 DOID:0111156
Orphanet 59 ORPHA171709
ICD10 via Orphanet 34 N46
MedGen 42 C0403825
MeSH 44 D007248
KEGG 37 H01208
UMLS 73 C3151407

Summaries for Spermatogenic Failure 6

NIH Rare Diseases : 53 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 infertility and spermatogenic failure 9. 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 round-headed spermatozoa lacking an acrosome.

Genetics Home Reference : 25 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 : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
abnormal sperm morphology
oligoasthenoteratozoospermia
globozoospermia, total
reduced or absent acrosin in the acrosome


Clinical features from OMIM:

102530

Human phenotypes related to Spermatogenic Failure 6:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 globozoospermia 32 HP:0012205

MGI Mouse Phenotypes related to Spermatogenic Failure 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 CSNK2A2 DPY19L2 GOPC ICA1L PICK1 SPACA1
2 reproductive system MP:0005389 9.47 ACR AURKC CSNK2A2 DPY19L2 GOPC ICA1L

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 29 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 all 18)
# Title Authors Year
1
An Overview of The Globozoospermia as A Multigenic Identified Syndrome. ( 30291685 )
2019
2
Association between total globozoospermia and sperm chromatin defects. ( 28660655 )
2018
3
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
4
A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection. ( 30324675 )
2018
5
Globozoospermia and lack of acrosome formation in GM130-deficient mice. ( 28055014 )
2017
6
Decreased fertilization seen in globozoospermia can be overcome with a modified ICSI technique in both IVF and IVM cycles. ( 28116890 )
2017
7
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
8
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models. ( 29065458 )
2017
9
Mfsd14a (Hiat1) gene disruption causes globozoospermia and infertility in male mice. ( 27107036 )
2016
10
A successful healthy childbirth in a case of total globozoospermia with oocyte activation by calcium ionophore. ( 25927030 )
2015
11
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
12
Comprehensive investigation in patients affected by globozoospermia. ( 26418511 )
2015
13
Ultrastructural Morphology of Sperm from Human Globozoospermia. ( 26436098 )
2015
14
Sperm parameters, protamine deficiency, and apoptosis in total globozoospermia. ( 26568752 )
2015
15
Globozoospermia syndrome: two case reports. ( 25306801 )
2014
16
Hypoosmotic swelling: evaluation of sperm tails using strict criteria in cases of globozoospermia. ( 8470942 )
1993
17
[Increased percentage of round-headed spermatozoa in human ejaculate]. ( 3425953 )
1987
18
Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. ( 6380341 )
1984

Variations for Spermatogenic Failure 6

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

75
# 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

Cellular components related to Spermatogenic Failure 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.02 DPY19L1 DPY19L2 DPY19L3 SPAG4 SUN5
2 meiotic nuclear membrane microtubule tethering complex GO:0034993 8.96 SPAG4 SUN5

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.8 DPY19L2 SPAG4 SPATA16 SPEM1 SUN5 TXNDC2
2 spermatid development GO:0007286 9.43 DPY19L2 ICA1L SUN5
3 nuclear envelope organization GO:0006998 9.37 SPAG4 SUN5
4 spermatogenesis GO:0007283 9.28 AURKC CSNK2A2 DPY19L2 SPACA1 SPAG4 SPATA16
5 cytoskeletal anchoring at nuclear membrane GO:0090286 9.16 SPAG4 SUN5
6 protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan GO:0018406 9.13 DPY19L1 DPY19L2 DPY19L3

Molecular functions related to Spermatogenic Failure 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein membrane anchor GO:0043495 8.96 SPAG4 SUN5
2 mannosyltransferase activity GO:0000030 8.8 DPY19L1 DPY19L2 DPY19L3

Sources for Spermatogenic Failure 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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