SPGF4
MCID: SPR089
MIFTS: 32

Spermatogenic Failure 4 (SPGF4)

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

Aliases & Classifications for Spermatogenic Failure 4

MalaCards integrated aliases for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 57 12 72 29 13 6
Spermatogenesis Arrest 57 73 20 72 54 39
Spgf4 57 12 72
Azoospermia Due to Perturbations of Meiosis 57 72
Azoospermia with Maturation Arrest 57 72
Pregnancy Loss, Recurrent, 4 57 72
Arrest of Spermatogenesis 20 70
Recurrent Pregnancy Loss 4 29
Rprgl4 72

Characteristics:

OMIM®:

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

Miscellaneous:
affected males are infertile, whereas affected females have recurrent pregnancy loss


HPO:

31
spermatogenic failure 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070176
OMIM® 57 270960
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 263681008 425558002 48188009
UMLS 70 C0232981

Summaries for Spermatogenic Failure 4

UniProtKB/Swiss-Prot : 72 Pregnancy loss, recurrent, 4: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions.
Spermatogenic failure 4: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.

MalaCards based summary : Spermatogenic Failure 4, also known as spermatogenesis arrest, is related to azoospermia and infertility. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis and testes, and related phenotypes are azoospermia and recurrent spontaneous abortion

Disease Ontology : 12 An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has material basis in mutation in the SYCP3 gene on chromosome 12q23.

OMIM® : 57 Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., 415000) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (270960) (Updated 20-May-2021)

Wikipedia : 73 Spermatogenesis arrest is known as the interruption of germinal cells of specific cellular type, which... more...

Related Diseases for Spermatogenic Failure 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 azoospermia 29.8 SYCP3 AR
2 infertility 29.4 SYCP3 AR
3 male infertility 29.4 SYCP3 AR
4 growth hormone deficiency 9.9
5 partial deletion of y 9.9
6 cryptorchidism, unilateral or bilateral 9.8 SYCP3 AR
7 premature menopause 9.7 SYCP3 AR

Graphical network of the top 20 diseases related to Spermatogenic Failure 4:



Diseases related to Spermatogenic Failure 4

Symptoms & Phenotypes for Spermatogenic Failure 4

Human phenotypes related to Spermatogenic Failure 4:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 recurrent spontaneous abortion 31 HP:0200067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
azoospermia
testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes

Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent
fetal loss after 6 to 10 weeks of gestation

Clinical features from OMIM®:

270960 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 4

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 4

Genetic Tests for Spermatogenic Failure 4

Genetic tests related to Spermatogenic Failure 4:

# Genetic test Affiliating Genes
1 Recurrent Pregnancy Loss 4 29
2 Spermatogenic Failure 4 29 SYCP3

Anatomical Context for Spermatogenic Failure 4

MalaCards organs/tissues related to Spermatogenic Failure 4:

40
Testis, Testes

Publications for Spermatogenic Failure 4

Articles related to Spermatogenic Failure 4:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Mutations of the SYCP3 gene in women with recurrent pregnancy loss. 57 6
19110213 2009
2
Azoospermia in patients heterozygous for a mutation in SYCP3. 57 6
14643120 2003
3
Meiotic arrest at first spermatocyte level: a new inherited infertility disorder. 61 57
6800930 1981
4
Genetics of pregnancy loss. 57
18303502 2008
5
Recurrent miscarriage. 57
16905025 2006
6
Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3. 57
12004129 2002
7
The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. 57
10678170 2000
8
Genetically determined asynapsis, spermatogenic degeneration, and infertility in men. 57
7446525 1980
9
Histopathology and ultrastructure of meiotic arrest in human spermatogenesis. 57
6893401 1980
10
Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest. 57
574357 1979
11
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. 54 61
19176467 2009
12
High androgen receptor immunoexpression in human "Sertoli cell only" testis. 54 61
16929754 2005
13
A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination. 61
33713115 2021
14
Metabolomics analysis reveals metabolic changes associated with trans-resveratrol treatment in experimental cryptorchidism mice. 61
33602390 2021
15
Gallic acid ameliorates busulfan-induced testicular toxicity and damage in mature rats. 61
33730944 2021
16
Preliminary investigation of the diagnostic value of shear wave elastography in evaluating the testicular spermatogenic function in patients with azoospermia. 61
33682169 2021
17
MicroRNA expression profiles in the seminal plasma of nonobstructive azoospermia patients with different histopathologic patterns. 61
33602558 2021
18
Exploring the dysregulated mRNAs-miRNAs-lncRNAs interactions associated to idiopathic non-obstructive azoospermia. 61
33499760 2021
19
Long-term exposure to formaldehyde induced down-regulation of SPO11 in rats. 61
33322957 2021
20
The effect of different types of exercise training on diet-induced obesity in rats, cross-talk between cell cycle proteins and apoptosis in testis. 61
32505844 2020
21
TBC1D20 Is Essential for Mouse Blood-Testis Barrier Integrity Through Maintaining the Epithelial Phenotype and Modulating the Maturation of Sertoli Cells. 61
31994000 2020
22
Identification of key genes associated with spermatogenesis arrest in fox hybrids using weighted gene co-expression network analysis. 61
32126384 2020
23
Abnormal functions of Leydig cells in crossbred cattle-yak showing infertility. 61
31858644 2020
24
TBC1D20 deficiency induces Sertoli cell apoptosis by triggering irreversible endoplasmic reticulum stress in mice. 61
31633178 2019
25
Experimental cryptorchidism enhances testicular susceptibility to dibutyl phthalate or acrylamide in Sprague-Dawley rats. 61
30995857 2019
26
Immunocontraceptive Effects in Male Rats Vaccinated with Gonadotropin-Releasing Hormone-I and -II Protein Complex. 61
30845792 2019
27
[Outcomes of micro-TESE combined with ICSI for non-obstructive azoospermia]. 61
32212444 2018
28
Meiotic Synapsis and Gene Expression Altered by a Balanced Y-Autosome Reciprocal Translocation in an Azoospermic Pig. 61
30179878 2018
29
Nut Directs p300-Dependent, Genome-Wide H4 Hyperacetylation in Male Germ Cells. 61
30257209 2018
30
Auxin-Mediated Sterility Induction System for Longevity and Mating Studies in Caenorhabditis elegans. 61
29880556 2018
31
Melatonin attenuates radiofrequency radiation (900 MHz)-induced oxidative stress, DNA damage and cell cycle arrest in germ cells of male Swiss albino mice. 61
29562845 2018
32
The cell adhesion molecule BT-IgSF is essential for a functional blood-testis barrier and male fertility in mice. 61
29123028 2017
33
Meiotic defects and decreased expression of genes located around the chromosomal breakpoint in the testis of a patient with a novel 46,X,t(Y;1)(p11.3;p31) translocation. 61
28627638 2017
34
Heterozygous mutation of eEF1A1b resulted in spermatogenesis arrest and infertility in male tilapia, Oreochromis niloticus. 61
28266557 2017
35
Azoospermia and Testicular Hypoplasia in a Boar Carrier of a Novel Y-Autosome Translocation. 61
27974725 2017
36
Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men. 61
28450650 2017
37
Short-term Effects of Date Palm Extract (Phoenix dactylifera) on Ischemia/Reperfusion Injury Induced by Testicular Torsion/Detorsion in Rats. 61
28250657 2017
38
Blood-testis barrier and Sertoli cell function: lessons from SCCx43KO mice. 61
26556893 2016
39
Knockout of BRD7 results in impaired spermatogenesis and male infertility. 61
26878912 2016
40
High-energy diets: a threat for male fertility? 61
25346452 2014
41
TBHP-induced oxidative stress alters microRNAs expression in mouse testis. 61
25141839 2014
42
Pathological changes of testicular tissue in normal adult mice: A retrospective analysis. 61
24520262 2014
43
Membrane transporters for sulfated steroids in the human testis--cellular localization, expression pattern and functional analysis. 61
23667501 2013
44
Spermatogenesis arrest caused by conditional deletion of Hsp90α in adult mice. 61
23213375 2012
45
[Abnormalities of meiotic recombination in Han Chinese azoospermic patients]. 61
22678787 2012
46
Circadian proteins CLOCK and BMAL1 in the chromatoid body, a RNA processing granule of male germ cells. 61
22900038 2012
47
Mice lacking Ran binding protein 1 are viable and show male infertility. 61
21310149 2011
48
Male sex interspecies divergence and down regulation of expression of spermatogenesis genes in Drosophila sterile hybrids. 61
21079940 2011
49
Quantification of seminolipid by LC-ESI-MS/MS-multiple reaction monitoring: compensatory levels in Cgt(+/⁻) mice. 61
20817833 2010
50
Thin-trimming of the scrotal reconstruction flap: long-term follow-up shows reversal of spermatogenesis arrest. 61
18786872 2009

Variations for Spermatogenic Failure 4

ClinVar genetic disease variations for Spermatogenic Failure 4:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYCP3 SYCP3, 1-BP DEL, 643A Deletion Pathogenic 5371 GRCh37:
GRCh38:
2 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.553-21_553-18del Deletion Pathogenic 5372 rs587776620 GRCh37: 12:102123009-102123012
GRCh38: 12:101729231-101729234
3 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.657T>C (p.Thr219=) SNV Pathogenic 5373 rs769825641 GRCh37: 12:102122887-102122887
GRCh38: 12:101729109-101729109
4 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.-64C>T SNV Uncertain significance 306765 rs886048840 GRCh37: 12:102133175-102133175
GRCh38: 12:101739397-101739397
5 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.*198G>A SNV Uncertain significance 306760 rs537685305 GRCh37: 12:102122507-102122507
GRCh38: 12:101728729-101728729
6 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.524_527del (p.Ile175fs) Deletion Uncertain significance 632179 rs749759423 GRCh37: 12:102125371-102125374
GRCh38: 12:101731593-101731596
7 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.-74T>C SNV Uncertain significance 882343 GRCh37: 12:102133185-102133185
GRCh38: 12:101739407-101739407
8 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.*243C>G SNV Uncertain significance 883344 GRCh37: 12:102122462-102122462
GRCh38: 12:101728684-101728684
9 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.28A>T (p.Arg10Trp) SNV Uncertain significance 880981 GRCh37: 12:102131686-102131686
GRCh38: 12:101737908-101737908
10 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.80T>C (p.Phe27Ser) SNV Likely benign 880979 GRCh37: 12:102131634-102131634
GRCh38: 12:101737856-101737856
11 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg) SNV Benign 880980 GRCh37: 12:102131655-102131655
GRCh38: 12:101737877-101737877
12 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.-53C>G SNV Benign 880982 GRCh37: 12:102133164-102133164
GRCh38: 12:101739386-101739386
13 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.-106A>G SNV Benign 882344 GRCh37: 12:102133217-102133217
GRCh38: 12:101739439-101739439
14 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.*183A>G SNV Benign 306761 rs115013475 GRCh37: 12:102122522-102122522
GRCh38: 12:101728744-101728744
15 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.435A>G (p.Glu145=) SNV Benign 306764 rs78591432 GRCh37: 12:102127371-102127371
GRCh38: 12:101733593-101733593
16 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.-122T>A SNV Benign 306766 rs17031944 GRCh37: 12:102133233-102133233
GRCh38: 12:101739455-101739455
17 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.*205G>A SNV Benign 306759 rs17723833 GRCh37: 12:102122500-102122500
GRCh38: 12:101728722-101728722
18 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.666A>G (p.Gln222=) SNV Benign 306762 rs190337934 GRCh37: 12:102122750-102122750
GRCh38: 12:101728972-101728972

Expression for Spermatogenic Failure 4

Search GEO for disease gene expression data for Spermatogenic Failure 4.

Pathways for Spermatogenic Failure 4

GO Terms for Spermatogenic Failure 4

Sources for Spermatogenic Failure 4

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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