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
Spgfy2 57 12 75
Spermatogenic Failure, Nonobstructive, Y-Linked 57 73
Spermatogenic Failure, Y-Linked 2 29 6
Nonobstructive Y-Linked Spermatogenic Failure 12
Spermatogenic Failure Nonobstructive Y-Linked 75
Non-Obstructive Azoospermia and Infertility 75
Oligozoospermia, Nonobstructive, Y-Linked 57
Oligozoospermia Non-Obstructive Y-Linked 75
Spermatogenic Failure, Y-Linked, Type 2 40
Oligospermia, Nonobstructive, Y-Linked 57
Azoospermia, Nonobstructive, Y-Linked 57
Oligospermia Non-Obstructive Y-Linked 75
Azoospermia Non-Obstructive Y-Linked 75
Y-Linked Spermatogenic Failure 2 12
Spermatogenic Failure Y-Linked 2 75
Spermatogenic Arrest, Y-Linked 57
Spermatogenic Arrest Y-Linked 75

Characteristics:

OMIM:

57
Inheritance:
y-linked (yq11.23)


HPO:

32
spermatogenic failure, y-linked, 2:
Inheritance y-linked inheritance


Classifications:



External Ids:

OMIM 57 415000
Disease Ontology 12 DOID:0070187
MedGen 42 C1839071
SNOMED-CT via HPO 69 425558002 48188009
UMLS 73 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)

MalaCards based summary : Spermatogenic Failure, Y-Linked, 2, also known as spgfy2, is related to oligospermia 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 phenotypes are azoospermia and Decreased NF-kappaB reporter expression

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 : 75 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, Y-Linked, 2 family:

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

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 oligospermia 10.0 DAZ1 DAZ4
2 phelan-mcdermid syndrome 10.0 DAZ1 RBMY1A1 USP9Y
3 infertility 9.9 DAZ1 DAZ4 DDX3Y USP9Y
4 partial deletion of y 9.7 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
5 spermatogenic failure, x-linked, 1 9.7 DAZ1 DAZ4 DDX3Y HSFY1 RBMY1A1 USP9Y
6 azoospermia 9.6 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
7 male infertility 9.5 BPY2 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027

GenomeRNAi Phenotypes related to Spermatogenic Failure, Y-Linked, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 9.23 CDY1 CDY2A DAZ3 DAZ4 DDX3Y PRY

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

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

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 XKRY

Anatomical Context for Spermatogenic Failure, Y-Linked, 2

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

41
Testis

Publications for Spermatogenic Failure, Y-Linked, 2

Variations for Spermatogenic Failure, Y-Linked, 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 USP9Y USP9Y, IVS7DS, 4-BP DEL deletion Pathogenic

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 9.36 BPY2 CDY1 CDY2A DAZ1 DAZ2 DAZ3
2 protein-containing complex GO:0032991 9.26 DAZ1 DAZ2 DAZ3 DAZ4

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

# Name GO ID Score Top Affiliating Genes
1 germ cell development GO:0007281 9.46 DAZ1 DAZ2 DAZ3 DAZ4
2 single fertilization GO:0007338 9.43 BPY2 DAZ2 XKRY
3 negative regulation of nucleic acid-templated transcription GO:1903507 9.37 CDY1 CDY2A
4 histone acetylation GO:0016573 9.32 CDY1 CDY2A
5 positive regulation of translational initiation GO:0045948 9.26 DAZ1 DAZ2 DAZ3 DAZ4
6 spermatogenesis GO:0007283 9.23 BPY2 CDY1 CDY2A DAZ1 DAZ2 DAZ3

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 9.8 DAZ1 DAZ2 DAZ3 DAZ4 DDX3Y RBMY1A1
2 mRNA 3'-UTR binding GO:0003730 9.46 DAZ1 DAZ2 DAZ3 DAZ4
3 mRNA binding GO:0003729 9.35 DAZ1 DAZ2 DAZ3 DAZ4 RBMY1A1
4 histone acetyltransferase activity GO:0004402 9.32 CDY1 CDY2A
5 translation activator activity GO:0008494 8.92 DAZ1 DAZ2 DAZ3 DAZ4

Sources for Spermatogenic Failure, Y-Linked, 2

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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