SPGF16
MCID: SPR111
MIFTS: 33

Spermatogenic Failure 16 (SPGF16)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 16

MalaCards integrated aliases for Spermatogenic Failure 16:

Name: Spermatogenic Failure 16 57 12 72 29 6 15
Acephalic Spermatozoa Syndrome 57 12 72
Spgf16 57 12 72
Spermatozoa, Acephalic 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070184
OMIM® 57 617187
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 16

OMIM® : 57 Spermatogenic failure-16 is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617187) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 16, also known as acephalic spermatozoa syndrome, is related to male infertility due to acephalic spermatozoa and male infertility. An important gene associated with Spermatogenic Failure 16 is SUN5 (Sad1 And UNC84 Domain Containing 5). Related phenotypes are infertility and reduced sperm motility

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has material basis in mutation in the SUN5 gene on chromosome 20q11.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 16: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads.

Related Diseases for Spermatogenic Failure 16

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 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 16 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility due to acephalic spermatozoa 32.1 SUN5 PMFBP1
2 male infertility 29.5 ODF1 OAZ3 DPY19L2 DNAJB13
3 infertility 10.4
4 spermatogenic failure 31 10.3
5 primary ciliary dyskinesia 9.1 ODF1 DPY19L2 DNAJB13 DNAH6
6 spermatogenic failure 50 8.9 SUN5 SPAG4 PMFBP1 ODF1 DPY19L2 DNAH6
7 spermatogenic failure 9 8.8 SUN5 SPAG4 ODF1 HOOK1 DPY19L2 DNAH6

Graphical network of the top 20 diseases related to Spermatogenic Failure 16:



Diseases related to Spermatogenic Failure 16

Symptoms & Phenotypes for Spermatogenic Failure 16

Human phenotypes related to Spermatogenic Failure 16:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 reduced sperm motility 31 HP:0012207
3 acephalic spermatozoa 31 HP:0012869

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
acephalic spermatozoa
asthenospermia
oligozoospermia
occasional intact spermatozoa with abnormal head-tail junction
more

Clinical features from OMIM®:

617187 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spermatogenic Failure 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 BRDT DPY19L2 HOOK1 KASH5 OAZ3 ODF1
2 reproductive system MP:0005389 9.36 BRDT DNAH6 DPY19L2 HOOK1 KASH5 OAZ3

Drugs & Therapeutics for Spermatogenic Failure 16

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 16

Genetic Tests for Spermatogenic Failure 16

Genetic tests related to Spermatogenic Failure 16:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 16 29 SUN5

Anatomical Context for Spermatogenic Failure 16

Publications for Spermatogenic Failure 16

Articles related to Spermatogenic Failure 16:

(show all 14)
# Title Authors PMID Year
1
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 61 57 6
27640305 2016
2
Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review. 61
33452591 2021
3
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. 61
33671757 2021
4
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. 61
33118031 2021
5
A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. 61
33484382 2021
6
[Outcomes of assisted reproductive technology for patients with different types of teratozoospermia]. 61
33377730 2020
7
The coupling apparatus of the sperm head and tail†. 61
31995163 2020
8
[Advances in the molecular genetic studies of acephalic spermatozoa syndrome]. 61
32233213 2019
9
Re: Patients with Acephalic Spermatozoa Syndrome Linked to SUN5 Mutations Have a Favorable Pregnancy Outcome from ICSI. 61
30577352 2019
10
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. 61
30032984 2018
11
Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI. 61
29329387 2018
12
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene. 61
29298896 2018
13
Homozygous deletion of SUN5 in three men with decapitated spermatozoa. 61
28541472 2017
14
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 61
27912045 2016

Variations for Spermatogenic Failure 16

ClinVar genetic disease variations for Spermatogenic Failure 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SUN5 NM_080675.4(SUN5):c.851C>G (p.Ser284Ter) SNV Pathogenic 268052 rs886041025 GRCh37: 20:31573588-31573588
GRCh38: 20:32985782-32985782
2 SUN5 NM_080675.4(SUN5):c.381del (p.Val128fs) Deletion Pathogenic 268050 rs781693813 GRCh37: 20:31585453-31585453
GRCh38: 20:32997647-32997647
3 SUN5 NM_080675.4(SUN5):c.824C>T (p.Thr275Met) SNV Pathogenic 268047 rs756459525 GRCh37: 20:31573615-31573615
GRCh38: 20:32985809-32985809
4 SUN5 NM_080675.4(SUN5):c.781G>A (p.Val261Met) SNV Pathogenic 268051 rs886041024 GRCh37: 20:31573658-31573658
GRCh38: 20:32985852-32985852
5 SUN5 NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys) SNV Pathogenic 268048 rs754130052 GRCh37: 20:31571674-31571674
GRCh38: 20:32983868-32983868
6 SUN5 NM_080675.4(SUN5):c.485T>A (p.Met162Lys) SNV Pathogenic 268049 rs886041023 GRCh37: 20:31583474-31583474
GRCh38: 20:32995668-32995668
7 SUN5 NM_080675.3:c.210_211dupGT Microsatellite Pathogenic 1031064 GRCh37: 20:31590390-31590391
GRCh38: 20:33002584-33002585
8 SUN5 NM_080675.4(SUN5):c.883del (p.Asp295fs) Deletion Pathogenic 1034216 GRCh37: 20:31573556-31573556
GRCh38: 20:32985750-32985750
9 SUN5 NM_080675.4(SUN5):c.88C>T (p.Arg30Ter) SNV Pathogenic 1034217 GRCh37: 20:31590715-31590715
GRCh38: 20:33002909-33002909

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 16:

72
# Symbol AA change Variation ID SNP ID
1 SUN5 p.Gly114Arg VAR_077983
2 SUN5 p.Thr275Met VAR_077986 rs756459525
3 SUN5 p.Asn348Ile VAR_077987 rs758335571

Expression for Spermatogenic Failure 16

Search GEO for disease gene expression data for Spermatogenic Failure 16.

Pathways for Spermatogenic Failure 16

GO Terms for Spermatogenic Failure 16

Cellular components related to Spermatogenic Failure 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 TSGA10 SPAG4 HOOK1 DNAH6 CEP112
2 cell projection GO:0042995 9.77 SPATA6 SPAG4 PMFBP1 DNAJB13 DNAH6
3 cilium GO:0005929 9.65 SPATA6 SPAG4 PMFBP1 DNAJB13 DNAH6
4 nuclear inner membrane GO:0005637 9.5 SUN5 SPAG4 DPY19L2
5 motile cilium GO:0031514 9.46 SPATA6 SPAG4 PMFBP1 DNAJB13
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.13 SUN5 SPAG4 KASH5
7 sperm connecting piece GO:0097224 8.92 SUN5 SPATA6 PMFBP1 DNAJB13

Biological processes related to Spermatogenic Failure 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.5 SUN5 SPATA6 SPAG4 ODF1 HOOK1 DPY19L2
2 spermatogenesis GO:0007283 9.36 TSGA10 SUN5 SPATA6 SPAG4 PMFBP1 ODF1
3 spermatid development GO:0007286 9.33 SUN5 HOOK1 DPY19L2
4 nuclear envelope organization GO:0006998 9.26 SUN5 SPAG4

Molecular functions related to Spermatogenic Failure 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 8.96 HOOK1 DNAH6
2 protein membrane anchor GO:0043495 8.62 SUN5 SPAG4

Sources for Spermatogenic Failure 16

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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