SPGF16
MCID: SPR111
MIFTS: 26

Spermatogenic Failure 16 (SPGF16)

Categories: 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 75 29 6 15
Acephalic Spermatozoa Syndrome 57 12 75
Spgf16 57 12 75
Spermatozoa, Acephalic 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617187
Disease Ontology 12 DOID:0070184
MeSH 44 D007248
SNOMED-CT via HPO 69 258211005 15296000 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)

MalaCards based summary : Spermatogenic Failure 16, is also known as acephalic spermatozoa syndrome. 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 : 75 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.

Symptoms & Phenotypes for Spermatogenic Failure 16

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
asthenospermia
oligozoospermia
acephalic spermatozoa
occasional intact spermatozoa with abnormal head-tail junction
more

Clinical features from OMIM:

617187

Human phenotypes related to Spermatogenic Failure 16:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 reduced sperm motility 32 HP:0012207
3 acephalic spermatozoa 32 HP:0012869

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:

# Title Authors Year
1
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene. ( 29298896 )
2018
2
Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI. ( 29329387 )
2018
3
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. ( 30032984 )
2018
4
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. ( 27912045 )
2016
5
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. ( 27640305 )
2016

Variations for Spermatogenic Failure 16

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

75
# 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

ClinVar genetic disease variations for Spermatogenic Failure 16:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SUN5 NM_080675.3(SUN5): c.851C> G (p.Ser284Ter) single nucleotide variant Pathogenic rs886041025 GRCh38 Chromosome 20, 32985782: 32985782
2 SUN5 NM_080675.3(SUN5): c.851C> G (p.Ser284Ter) single nucleotide variant Pathogenic rs886041025 GRCh37 Chromosome 20, 31573588: 31573588
3 SUN5 NM_080675.3(SUN5): c.824C> T (p.Thr275Met) single nucleotide variant Pathogenic rs756459525 GRCh37 Chromosome 20, 31573615: 31573615
4 SUN5 NM_080675.3(SUN5): c.824C> T (p.Thr275Met) single nucleotide variant Pathogenic rs756459525 GRCh38 Chromosome 20, 32985809: 32985809
5 SUN5 NM_080675.3(SUN5): c.1066C> T (p.Arg356Cys) single nucleotide variant Pathogenic rs754130052 GRCh38 Chromosome 20, 32983868: 32983868
6 SUN5 NM_080675.3(SUN5): c.1066C> T (p.Arg356Cys) single nucleotide variant Pathogenic rs754130052 GRCh37 Chromosome 20, 31571674: 31571674
7 SUN5 NM_080675.3(SUN5): c.485T> A (p.Met162Lys) single nucleotide variant Pathogenic rs886041023 GRCh38 Chromosome 20, 32995668: 32995668
8 SUN5 NM_080675.3(SUN5): c.485T> A (p.Met162Lys) single nucleotide variant Pathogenic rs886041023 GRCh37 Chromosome 20, 31583474: 31583474
9 SUN5 NM_080675.3(SUN5): c.381delA (p.Val128Serfs) deletion Pathogenic rs781693813 GRCh37 Chromosome 20, 31585453: 31585453
10 SUN5 NM_080675.3(SUN5): c.381delA (p.Val128Serfs) deletion Pathogenic rs781693813 GRCh38 Chromosome 20, 32997647: 32997647
11 SUN5 NM_080675.3(SUN5): c.781G> A (p.Val261Met) single nucleotide variant Pathogenic rs886041024 GRCh38 Chromosome 20, 32985852: 32985852
12 SUN5 NM_080675.3(SUN5): c.781G> A (p.Val261Met) single nucleotide variant Pathogenic rs886041024 GRCh37 Chromosome 20, 31573658: 31573658

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 cilium GO:0005929 9.16 DNAJB13 SPATA6
2 motile cilium GO:0031514 8.96 DNAJB13 SPATA6
3 sperm connecting piece GO:0097224 8.8 DNAJB13 SPATA6 SUN5

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

# Name GO ID Score Top Affiliating Genes
1 protein folding GO:0006457 8.96 DNAJB1 DNAJB13
2 chaperone cofactor-dependent protein refolding GO:0051085 8.62 DNAJB1 DNAJB13

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

# Name GO ID Score Top Affiliating Genes
1 unfolded protein binding GO:0051082 8.96 DNAJB1 DNAJB13
2 chaperone binding GO:0051087 8.62 DNAJB1 DNAJB13

Sources for Spermatogenic Failure 16

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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