MCID: PRT049
MIFTS: 34

Partial Deletion of Y

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Partial Deletion of Y

MalaCards integrated aliases for Partial Deletion of Y:

Name: Partial Deletion of Y 52 29
Partial Deletion of the Long Arm of the Y Chromosome 52
Male Sterility Due to Chromosome Y Deletion 58
Partial Deletion of Y Chromosome Short Arm 52
Partial Deletion of Chromosome Y 52
Partial Chromosome Y Deletion 58
Y-Chromosome Microdeletions 52
Y Chromosome Deletions 71

Characteristics:

Orphanet epidemiological data:

58
partial chromosome y deletion
Inheritance: Not applicable,Y-linked; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare infertility disorders
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C536297
ICD10 via Orphanet 33 Q98.6
UMLS via Orphanet 72 C1507149 C2931163
Orphanet 58 ORPHA1646
SNOMED-CT via HPO 68 204878001 276411001 2904007
UMLS 71 C1507149

Summaries for Partial Deletion of Y

MalaCards based summary : Partial Deletion of Y, also known as partial deletion of the long arm of the y chromosome, is related to y chromosome infertility and infertility. An important gene associated with Partial Deletion of Y is DAZ1 (Deleted In Azoospermia 1). Affiliated tissues include testes, bone and testis, and related phenotypes are decreased testicular size and male infertility

Related Diseases for Partial Deletion of Y

Diseases related to Partial Deletion of Y via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 y chromosome infertility 30.5 USP9Y RBMY1A1 DDX3Y DAZ3 DAZ2 DAZ1
2 infertility 28.8 USP9Y DDX3Y DAZ4 DAZ1
3 gonadoblastoma 28.5 TSPY1 RBMY1A1
4 spermatogenic failure, y-linked, 2 27.7 USP9Y RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
5 azoospermia 27.2 USP9Y RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
6 male infertility 27.0 USP9Y RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
7 varicocele 10.5
8 spermatogenic failure, x-linked, 1 10.5
9 hypogonadotropic hypogonadism 10.5
10 47, xxy 10.4
11 cryptorchidism, unilateral or bilateral 10.3
12 hypospadias 10.2
13 47,xyy 10.2
14 spermatogenic failure 6 10.1
15 cystic fibrosis 10.1
16 spermatogenic failure 4 10.1
17 spermatogenic failure 9 10.1
18 mixed gonadal dysgenesis 10.1
19 hypogonadism 10.1
20 hypogonadotropism 10.1
21 penoscrotal transposition 10.1
22 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
23 androgen insensitivity, partial 10.0
24 spermatogenic failure 3 10.0
25 46 xy gonadal dysgenesis 10.0
26 sex development disorder 10.0
27 orchitis 10.0
28 testicular cancer 10.0
29 pseudohermaphroditism 10.0
30 myeloid leukemia 10.0
31 46,xy partial gonadal dysgenesis 10.0
32 male infertility due to obstructive azoospermia 10.0
33 oligoasthenoteratozoospermia 9.8
34 oligospermia 9.8
35 gonadal dysgenesis 9.8
36 turner syndrome 9.8
37 phelan-mcdermid syndrome 9.3 USP9Y RBMY1A1 DAZ1

Graphical network of the top 20 diseases related to Partial Deletion of Y:



Diseases related to Partial Deletion of Y

Symptoms & Phenotypes for Partial Deletion of Y

Human phenotypes related to Partial Deletion of Y:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
2 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
3 non-obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011961
4 oligospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000798
5 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
6 abnormal spermatogenesis 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Partial Deletion of Y according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 DAZ2 DAZ3 DAZ4

Drugs & Therapeutics for Partial Deletion of Y

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Y-chromosome Microdeletions From Infertile Men on the Chromosomal Constitution of Their Spermatozoa and Embryos. Combined IntraCytoplasmatic Sperm Injection (ICSI) and Preimplantation Genetic Screening (PGS) as Treatment Strategy. Terminated NCT02527954

Search NIH Clinical Center for Partial Deletion of Y

Genetic Tests for Partial Deletion of Y

Genetic tests related to Partial Deletion of Y:

# Genetic test Affiliating Genes
1 Partial Deletion of Y 29

Anatomical Context for Partial Deletion of Y

MalaCards organs/tissues related to Partial Deletion of Y:

40
Testes, Bone, Testis, Bone Marrow, Whole Blood, Myeloid

Publications for Partial Deletion of Y

Articles related to Partial Deletion of Y:

(show top 50) (show all 383)
# Title Authors PMID Year
1
Y Chromosome Infertility 6
20301513 2002
2
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. 6
10581029 1999
3
[Prenatal diagnosis for two fetuses carrying partial deletion of Y chromosome]. 61
32034751 2020
4
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts. 61
31916079 2020
5
AZF deletions in Indian populations: original study and meta-analyses. 61
31919744 2020
6
Reply to Alberto Ferlin's Letter to the Editor, re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review, Meta-analysis of European, North American Studies. Eur Urol 2019, 76:626-36. Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be, Based Merely on Sperm Concentration: Shared Decision-Making and Reconsideration of Thresholds for Genetic Testing of Men with Severe Spermatogenic Failure. 61
31980315 2020
7
Re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies. Eur Urol 2019;76:626-36: Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be Based Merely on Sperm Concentration. 61
31980313 2020
8
The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China. 61
31805572 2019
9
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 61
31860174 2019
10
Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China. 61
31885309 2019
11
Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men. 61
31687839 2019
12
The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review and Meta-analysis of European and North American Studies. 61
31400948 2019
13
A Refined View on the Association Between Y-chromosome Microdeletions and Sperm Concentration. 61
31447078 2019
14
Y chromosome microdeletions screening in Tunisian infertile men. 61
31512578 2019
15
Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions. 61
31593094 2019
16
Sperm Count and Hypogonadism as Markers of General Male Health. 61
31427194 2019
17
Re: An Analysis of the Frequency of Y-Chromosome Microdeletions and the Determination of a Threshold Sperm Concentration for Genetic Testing in Infertile Men. 61
31059658 2019
18
Case 267: Cecureterocoele Manifesting in a Man with Infertility. 61
31219756 2019
19
The reproductive outcome of an infertile man with AZFc microdeletions, via intracytoplasmic sperm injection in a high-risk pregnancy: Case report and literature review. 61
31305430 2019
20
Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome. 61
30499012 2019
21
Genetic investigations on causes of male infertility in Western Saudi Arabia. 61
30907014 2019
22
Consequences of Y chromosome microdeletions beyond male infertility. 61
31214882 2019
23
Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience. 61
31355535 2019
24
Impact of male factor infertility on offspring health and development. 61
31155114 2019
25
A rare case of de novo balanced reciprocal Y:1 chromosomal translocation in patient presenting with azoospermia. 61
30714178 2019
26
Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males 61
30053768 2019
27
Evaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families. 61
31000864 2019
28
Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China. 61
30614339 2019
29
[Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions]. 61
30872260 2019
30
Case 267. 61
30789814 2019
31
An analysis of the frequency of Y-chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men. 61
30113756 2019
32
Early detection of Y chromosome microdeletions in infertile men is helpful to guide clinical reproductive treatments in southwest of China. 61
30702623 2019
33
Genetic defects in human azoospermia. 61
31024732 2019
34
[Retrospective analysis of factors affecting patency rates and causes of failure in use of single-armed two-suture microsurgical vasoepididymostomy]. 61
30541214 2018
35
Paternal factors contributing to embryo quality. 61
30206748 2018
36
A Search for Disorders of Sex Development among Infertile Men. 61
30372699 2018
37
The frequencies of Y chromosome microdeletions in infertile males. 61
29799410 2018
38
Natural Transmission of b2/b3 Subdeletion or Duplication to Expanded Y Chromosome Microdeletions. 61
30226219 2018
39
Comprehensive genetic testing for female and male infertility using next-generation sequencing. 61
29779145 2018
40
Detection of Y Chromosome Microdeletions and Hormonal Profile Analysis of Infertile Men undergoing Assisted Reproductive Technologies. 61
29707937 2018
41
High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility. 61
28521575 2018
42
Role of male genetic factors in recurrent pregnancy loss in Northeast China. 61
29525520 2018
43
The Importance of Cytogenetics and Associated Molecular Techniques in the Management of Patients Carrying Robertsonian Translocation and Their Pregnancy Outcome by Intracytoplasmic Sperm Injection. 61
29662277 2018
44
Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study. 61
29265486 2018
45
Testing for genetic contributions to infertility: potential clinical impact. 61
29540081 2018
46
Efficient generation of functional haploid spermatids from human germline stem cells by three-dimensional-induced system. 61
29305586 2018
47
Molecular analysis of CAG repeat length of the androgen receptor gene and Y chromosome microdeletions among Jordanian azoospermic infertile males. 61
29441603 2018
48
Multiplex-Polymerase Chain Reaction for Detecting Microdeletions in The Azoospermia Factor Region of Y Chromosome in Iranian Couples with Non-Obstructive Infertility and Recurrent Pregnancy Loss. 61
29043699 2018
49
Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia. 61
28730893 2018
50
Mice With Partial Deletion of Y-Heterochromatin Exhibits Stress Vulnerability. 61
30297990 2018

Variations for Partial Deletion of Y

Expression for Partial Deletion of Y

Search GEO for disease gene expression data for Partial Deletion of Y.

Pathways for Partial Deletion of Y

GO Terms for Partial Deletion of Y

Cellular components related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 TSPY1 RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2
2 cytoplasm GO:0005737 9.5 USP9Y TSPY1 DDX3Y DAZ4 DAZ3 DAZ2
3 protein-containing complex GO:0032991 8.92 DAZ4 DAZ3 DAZ2 DAZ1

Biological processes related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.8 TSPY1 DDX3Y DAZ4 DAZ3 DAZ2 DAZ1
2 multicellular organism development GO:0007275 9.77 TSPY1 DAZ4 DAZ3 DAZ2 DAZ1
3 spermatogenesis GO:0007283 9.73 USP9Y TSPY1 DAZ4 DAZ3 DAZ2 DAZ1
4 germ cell development GO:0007281 9.46 DAZ4 DAZ3 DAZ2 DAZ1
5 3'-UTR-mediated mRNA stabilization GO:0070935 9.26 DAZ4 DAZ3 DAZ2 DAZ1
6 positive regulation of translational initiation GO:0045948 8.92 DAZ4 DAZ3 DAZ2 DAZ1

Molecular functions related to Partial Deletion of Y according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.73 RBMY1A1 DDX3Y DAZ4 DAZ3 DAZ2 DAZ1
2 mRNA 3'-UTR binding GO:0003730 9.46 DAZ4 DAZ3 DAZ2 DAZ1
3 mRNA binding GO:0003729 9.35 RBMY1A1 DAZ4 DAZ3 DAZ2 DAZ1
4 translation activator activity GO:0008494 8.92 DAZ4 DAZ3 DAZ2 DAZ1

Sources for Partial Deletion of Y

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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