SPGFY2
MCID: SPR093
MIFTS: 32

Spermatogenic Failure, Y-Linked, 2 (SPGFY2)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure, Y-Linked, 2

MalaCards integrated aliases for Spermatogenic Failure, Y-Linked, 2:

Name: Spermatogenic Failure, Y-Linked, 2 57 13
Spermatogenic Failure, Nonobstructive, Y-Linked 57 44 71
Spgfy2 57 12 73
Spermatogenic Failure, Y-Linked 2 29 6
Y-Linked Spermatogenic Failure 2 12 15
Nonobstructive Y-Linked Spermatogenic Failure 12
Spermatogenic Failure Nonobstructive Y-Linked 73
Non-Obstructive Azoospermia and Infertility 73
Oligozoospermia, Nonobstructive, Y-Linked 57
Oligozoospermia Non-Obstructive Y-Linked 73
Spermatogenic Failure, Y-Linked, Type 2 39
Oligospermia, Nonobstructive, Y-Linked 57
Azoospermia, Nonobstructive, Y-Linked 57
Oligospermia Non-Obstructive Y-Linked 73
Azoospermia Non-Obstructive Y-Linked 73
Spermatogenic Failure Y-Linked 2 73
Spermatogenic Arrest, Y-Linked 57
Spermatogenic Arrest Y-Linked 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
y-linked (yq11.23)


HPO:

31
spermatogenic failure, y-linked, 2:
Inheritance y-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070187
OMIM® 57 415000
OMIM Phenotypic Series 57 PS258150
MedGen 41 C1839071
SNOMED-CT via HPO 68 425558002 48188009
UMLS 71 C1839071

Summaries for Spermatogenic Failure, Y-Linked, 2

OMIM® : 57 About 2 to 3% of human males are infertile because of defects in sperm function, primarily due to oligozoospermia (defined as less than 10-15 million sperm per mL of semen) or azoospermia (Hull et al., 1985). (415000) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure, Y-Linked, 2, also known as spermatogenic failure, nonobstructive, y-linked, is related to infertility and phelan-mcdermid syndrome. An important gene associated with Spermatogenic Failure, Y-Linked, 2 is USP9Y (Ubiquitin Specific Peptidase 9 Y-Linked). Affiliated tissues include testis, and related phenotype is azoospermia.

Disease Ontology : 12 A male infertility characterized by nonobstroctive azoospermia or oligozoospermia that has material basis in interstitial deletions on the Yq11.221 chromosomal region.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure Y-linked 2: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.

Related Diseases for Spermatogenic Failure, Y-Linked, 2

Diseases in the Spermatogenic Failure, X-Linked, 1 family:

Spermatogenic Failure, X-Linked, 3 Spermatogenic Failure, X-Linked, 2
Spermatogenic Failure, Y-Linked, 1 Spermatogenic Failure, Y-Linked, 2

Diseases related to Spermatogenic Failure, Y-Linked, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infertility 10.0 USP9Y H2BW1 DDX3Y DAZ4 DAZ1
2 phelan-mcdermid syndrome 10.0 USP9Y RBMY1A1 DAZ1
3 partial deletion of y 9.9 USP9Y RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
4 azoospermia 9.7 USP9Y RBMY1A1 MEIOB DDX3Y DAZ4 DAZ3
5 male infertility 9.4 USP9Y RBMY1A1 PRY2 PRY H2BW1 DDX3Y
6 y chromosome infertility 9.1 VCY USP9Y RPS4Y2 RBMY1A1 PRY2 PRY

Graphical network of the top 20 diseases related to Spermatogenic Failure, Y-Linked, 2:



Diseases related to Spermatogenic Failure, Y-Linked, 2

Symptoms & Phenotypes for Spermatogenic Failure, Y-Linked, 2

Human phenotypes related to Spermatogenic Failure, Y-Linked, 2:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
G U:
nonobstructive oligo- or azoospermia
azoospermia factor (azf)

Misc:
predicted protein products suggest role in rna processing or translational control during early spermatogenesis
testis specific gene expression

Clinical features from OMIM®:

415000 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spermatogenic Failure, Y-Linked, 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility. Recruiting NCT02641769 Phase 1, Phase 2

Search NIH Clinical Center for Spermatogenic Failure, Y-Linked, 2

Cochrane evidence based reviews: spermatogenic failure, nonobstructive, y-linked

Genetic Tests for Spermatogenic Failure, Y-Linked, 2

Genetic tests related to Spermatogenic Failure, Y-Linked, 2:

# Genetic test Affiliating Genes
1 Spermatogenic Failure, Y-Linked 2 29 BPY2 CDY1 CDY2A DAZ1 DAZ2 DAZ3 DDX3Y HSFY1 KDM5D PRY PRY2 RBMY1A1 RPS4Y2 USP9Y VCY

Anatomical Context for Spermatogenic Failure, Y-Linked, 2

MalaCards organs/tissues related to Spermatogenic Failure, Y-Linked, 2:

40
Testis

Publications for Spermatogenic Failure, Y-Linked, 2

Articles related to Spermatogenic Failure, Y-Linked, 2:

(show top 50) (show all 52)
# Title Authors PMID Year
1
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. 57 6
10581029 1999
2
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. 57
23103232 2012
3
Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. 57
21429917 2011
4
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. 57
19737515 2009
5
Spermatogenesis in a man with complete deletion of USP9Y. 57
19246359 2009
6
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. 57
18782837 2009
7
Partial AZFc deletions and duplications: clinical correlates in the Italian population. 57
18807255 2008
8
Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. 57
17412880 2007
9
Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. 57
17285591 2007
10
Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. 57
17213277 2007
11
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. 57
17158590 2007
12
The Y deletion gr/gr and susceptibility to testicular germ cell tumor. 57
16380914 2005
13
The gr/gr deletion(s): a new genetic test in male infertility? 57
15937085 2005
14
Association of partial AZFc region deletions with spermatogenic impairment and male infertility. 57
15744033 2005
15
Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. 57
15509635 2005
16
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. 57
15520406 2004
17
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. 57
15271204 2004
18
A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. 57
15177557 2004
19
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. 57
12554687 2003
20
Lack of association between Y chromosome haplogroups and male infertility in Japanese men. 57
12494434 2003
21
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. 57
12525536 2003
22
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions. 57
12466362 2002
23
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. 57
12297986 2002
24
Genotyping of Israeli infertile men with idiopathic oligozoospermia. 57
12220434 2002
25
A new case of Yq microdeletion transmitted from a normal father to two infertile sons. 57
12070259 2002
26
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. 57
11687796 2001
27
Identification of a Y chromosome haplogroup associated with reduced sperm counts. 57
11555623 2001
28
Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. 57
11397865 2001
29
Sertoli cell function in infertile patients with and without microdeletions of the azoospermia factors on the Y chromosome long arm. 57
11397833 2001
30
Y chromosome microdeletions and alterations of spermatogenesis. 57
11294825 2001
31
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. 57
11001932 2000
32
Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. 57
10767340 2000
33
Y chromosome microdeletion in a father and his four infertile sons. 57
10548602 1999
34
A high frequency of Y chromosome deletions in males with nonidiopathic infertility. 57
10523003 1999
35
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. 57
10507722 1999
36
Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. 57
10230814 1999
37
A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. 57
9806824 1998
38
AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. 57
9804236 1998
39
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. 57
9384609 1998
40
Microdeletions in the Y chromosome of infertile men. 57
9023089 1997
41
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. 57
8817327 1996
42
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. 57
7670487 1995
43
PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. 57
7661932 1994
44
A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. 57
8269511 1993
45
Loss of the 'azoospermia factor' (AZF) on Yq in man is not associated with loss of HYA. 57
8504308 1993
46
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. 57
1634226 1992
47
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. 57
1301132 1992
48
Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs). 57
2709392 1989
49
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11. 57
3163319 1988
50
A deletion map of the human Y chromosome based on DNA hybridization. 57
3004206 1986

Variations for Spermatogenic Failure, Y-Linked, 2

ClinVar genetic disease variations for Spermatogenic Failure, Y-Linked, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USP9Y USP9Y, IVS7DS, 4-BP DEL Deletion Pathogenic 9757

Expression for Spermatogenic Failure, Y-Linked, 2

Search GEO for disease gene expression data for Spermatogenic Failure, Y-Linked, 2.

Pathways for Spermatogenic Failure, Y-Linked, 2

GO Terms for Spermatogenic Failure, Y-Linked, 2

Cellular components related to Spermatogenic Failure, Y-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.5 USP9Y RBMY1A1 MEIOB KDM5D HSFY1 HSF2

Biological processes related to Spermatogenic Failure, Y-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of translational initiation GO:0045948 9.46 DAZ4 DAZ3 DAZ2 DAZ1
2 spermatogenesis GO:0007283 9.28 USP9Y HSF2 DAZ4 DAZ3 DAZ2 DAZ1
3 3'-UTR-mediated mRNA stabilization GO:0070935 9.26 DAZ4 DAZ3 DAZ2 DAZ1

Molecular functions related to Spermatogenic Failure, Y-Linked, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.87 RPS4Y2 RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
2 nucleic acid binding GO:0003676 9.73 RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2 DAZ1
3 mRNA 3'-UTR binding GO:0003730 9.46 DAZ4 DAZ3 DAZ2 DAZ1
4 histone acetyltransferase activity GO:0004402 9.37 CDY2A CDY1
5 mRNA binding GO:0003729 9.35 RBMY1A1 DAZ4 DAZ3 DAZ2 DAZ1
6 translation activator activity GO:0008494 8.92 DAZ4 DAZ3 DAZ2 DAZ1

Sources for Spermatogenic Failure, Y-Linked, 2

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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