MCID: RNG031
MIFTS: 29

Ring Chromosome Y Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Ring Chromosome Y Syndrome

Summaries for Ring Chromosome Y Syndrome

MalaCards based summary : Ring Chromosome Y Syndrome, is also known as ring chromosome y, and has symptoms including male hypogonadism, azoospermia and ambiguous genitalia, male. Affiliated tissues include ovary.

Related Diseases for Ring Chromosome Y Syndrome

Symptoms & Phenotypes for Ring Chromosome Y Syndrome

Human phenotypes related to Ring Chromosome Y Syndrome:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000026
2 azoospermia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000027
3 ambiguous genitalia, male 55 31 frequent (33%) Frequent (79-30%) HP:0000033
4 bifid scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000048
5 perineal hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000051
6 ambiguous genitalia, female 55 31 frequent (33%) Frequent (79-30%) HP:0000061
7 gonadal dysgenesis 55 31 frequent (33%) Frequent (79-30%) HP:0000133
8 gonadoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000150
9 gynecomastia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000771
10 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
11 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
12 male infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0003251
13 female infertility 55 31 hallmark (90%) Very frequent (99-80%) HP:0008222
14 streak ovary 55 31 occasional (7.5%) Occasional (29-5%) HP:0010464
15 unilateral cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0012741
16 urogenital sinus anomaly 55 31 frequent (33%) Frequent (79-30%) HP:0100779
17 cryptorchidism 55 Very frequent (99-80%)
18 hypospadias 55 Frequent (79-30%)
19 abnormal spermatogenesis 55 Very frequent (99-80%)
20 ambiguous genitalia 55 Frequent (79-30%)
21 abnormality of the female genitalia 55 Frequent (79-30%)
22 abnormality of the male genitalia 55 Frequent (79-30%)

Drugs & Therapeutics for Ring Chromosome Y Syndrome

Search Clinical Trials , NIH Clinical Center for Ring Chromosome Y Syndrome

Genetic Tests for Ring Chromosome Y Syndrome

Anatomical Context for Ring Chromosome Y Syndrome

MalaCards organs/tissues related to Ring Chromosome Y Syndrome:

38
Ovary

Publications for Ring Chromosome Y Syndrome

Articles related to Ring Chromosome Y Syndrome:

(show top 50) (show all 2168)
# Title Authors Year
1
Baicalin reverses the impairment of synaptogenesis induced by dopamine burden via the stimulation of GABA<sub>A</sub>R-TrkB interaction in minimal hepatic encephalopathy. ( 29404643 )
2018
2
Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABA<sub>A</sub>R antibodies. ( 29203057 )
2018
3
Rituximab-Bendamustine (R-Benda) in MALT lymphoma complicating primary SjAPgren syndrome (pSS). ( 29424433 )
2018
4
The ameliorative effects of Ginkgo biloba on apoptosis, LH-R expression and sperm morphology anomaly in testicular torsion and detorsion. ( 29411888 )
2018
5
Bendamustine plus Rituximab Versus R-CHOP as First-Line Treatment for Patients with Follicular Lymphoma Grade 3A: Evidence from a Multicenter, Retrospective Study. ( 29317554 )
2018
6
Preliminary Psychometric Testing of the Postpartum Depression Predictors Inventory-Revised (PDPI-R) in Portuguese Women. ( 29327321 )
2018
7
Myelodysplastic Syndrome Splicing Factor Mutations Induce R-Loops. ( 29439150 )
2018
8
High frequency and prognostic value of<i>MYD88</i>L265P mutation in diffuse large B-cell lymphoma with R-CHOP treatment. ( 29403563 )
2018
9
Repeated Administration of Opra Kappa (LY2456302), a Novel, Short-Acting, Selective KOP-r Antagonist, in Persons with and without Cocaine Dependence. ( 29422497 )
2018
10
Impaired autophagic flux is associated with the severity of trauma and the role of A<sub>2A</sub>R in brain cells after traumatic brain injury. ( 29449536 )
2018
11
R-CHOP, radioimmunotherapy, and maintenance rituximab in untreated follicular lymphoma (SWOG S0801): a single-arm, phase 2, multicentre study. ( 29396094 )
2018
12
Obesity negatively impacts outcome in elderly female patients with aggressive B-cell lymphomas treated with R-CHOP: results from prospective trials of the German high grade non-Hodgkin's lymphoma trial group. ( 29193018 )
2018
13
Neuroendocrine Tumor Heterogeneity Adds Uncertainty to the World Health Organization 2010 Classification: Real-World Data from the Spanish Tumor Registry (R-GETNE). ( 29330208 )
2018
14
In vitro evaluation of the enantiomeric R- and S-1,1'-binaphthyl-2,2'-diaminodichlorido-Pt(ii) complexes in human Burkitt lymphoma cells: emphasis on cellular accumulation, cytotoxicity, DNA binding, and ability to induce apoptosis. ( 29333543 )
2018
15
Management of Membranous Nephropathy in the PLA<sub>2</sub>R Era. ( 29378770 )
2018
16
P2Y<sub>2</sub>R Deletion Ameliorates Sialadenitis in IL-14I+-transgenic Mice. ( 29297959 )
2018
17
Risk of HBV reactivation in HBV+HCV coinfected patients with compensated liver cirrhosis treated with Ombitasvir, Paritaprevir/r+Dasabuvir+Ribavirin. ( 29397016 )
2018
18
Mechanism of Protein Kinase R Inhibition by Human Cytomegalovirus pTRS1. ( 27974558 )
2017
19
Highly Pathogenic New World Arenavirus Infection Activates the Pattern Recognition Receptor Protein Kinase R without Attenuating Virus Replication in Human Cells. ( 28794024 )
2017
20
ABCG2 and NCF4 polymorphisms are associated with clinical outcomes in diffuse large B-cell lymphoma patients treated with R-CHOP. ( 28938556 )
2017
21
The Effect of Hand Gesture Cues Within the Treatment of /r/ for a College-Aged Adult With Persisting Childhood Apraxia of Speech. ( 29114768 )
2017
22
Review of "Echinococcus and Echinococcosis, Part A." edited by R. C. Andrew Thompson, Alan J. Lymbery and Peter Deplazes. ( 28870244 )
2017
23
Functions of Replication Protein A as a Sensor of R Loops and a Regulator of RNaseH1. ( 28257700 )
2017
24
R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome. ( 29248492 )
2017
25
Carthamus tinctorius L. extract improves hemodynamic and vascular alterations in a rat model of renovascular hypertension through Ang II-AT<sub>1</sub>R-NADPH oxidase pathway. ( 29274384 )
2017
26
Prognostic Value of the Pretreatment Advanced Lung Cancer Inflammation Index (ALI) in Diffuse Large B Cell Lymphoma Patients Treated with R-CHOP Chemotherapy. ( 28076862 )
2017
27
Complete remission of primary cutaneous intravascular large B-cell lymphoma with R-CHOP followed by rituximab monotherapy. ( 28508527 )
2017
28
SHANK proteins limit integrin activation by directly interacting with Rap1 andA R-Ras. ( 28263956 )
2017
29
Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area. ( 28535779 )
2017
30
Letter to the Editor concerning "One and a half syndrome following penetrating head injury: Case report" by Mathew R. Voisin, Sanskriti Sasikumar, Jeremy H. Russell, Gelareh Zadeh, Journal of Clinical Neuroscience 41 (2017) 88-90. ( 28888479 )
2017
31
T-Cell Intracellular Antigens and Hu Antigen R Antagonistically Modulate Mitochondrial Activity and Dynamics by Regulating Optic Atrophy 1 Gene Expression. ( 28630277 )
2017
32
Re: Pre-eclampsia: an important risk factor for asymptomatic heart failure. C. Ghossein-Doha, J. van Neer, B. Wissink, N. Breetveld, L. J. de Windt, A. P. J. van Dijk, M. J. van der Vlugt, M. C. H. Janssen, W. M. Heidema, R. R. Scholten and M. E. A. Spaanderman. Ultrasound Obstet Gynecol 2017; 49: 143-149. ( 28058791 )
2017
33
R-SCAN: Imaging for Pediatric Simple Febrile Seizures. ( 28551342 )
2017
34
Sudden cardiac death in a dog during Holter recording-R on T phenomenon. ( 28939249 )
2017
35
[11C]-(R)-PK11195 positron emission tomography in patients with complex regional pain syndrome: A pilot study. ( 28072713 )
2017
36
AT2 R deficiency mediated podocyte loss via activation of ectopic hedgehog interacting protein (Hhip) gene expression. ( 28722118 )
2017
37
Real world data on young patients with high-risk diffuse large B-cell lymphoma treated with R-CHOP or R-CHOEP - MYC, BCL2 and BCL6 as prognostic biomarkers. ( 29088292 )
2017
38
Delayed erythematous skin reaction with SERI((R))-assisted direct to implant breast reconstruction. ( 28918996 )
2017
39
In response to: "Gautam N, Singh R, Agarwal A, et al. Pattern of Pediatric Uveitis at a Tertiary Referral Institute in North India". ( 28075200 )
2017
40
An In Vivo (11)C-(R)-PK11195 PET and In Vitro Pathology Study of Microglia Activation in Creutzfeldt-Jakob Disease. ( 28455699 )
2017
41
Prognostic value of the soluble interleukin-2 receptor level after patients with follicular lymphoma achieve a response to R-CHOP. ( 28413914 )
2017
42
Encouraging activity for R-CHOP in Advanced Stage Nodular Lymphocyte Predominant Hodgkin Lymphoma. ( 28522441 )
2017
43
RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instability. ( 29042409 )
2017
44
Clinicopathologic significance of tumor microenvironment CD11c, and FOXP3 expression in diffuse large B-cell lymphoma patients receiving rituximab, cyclophosphamide, anthracycline, vincristine, and prednisone (R-CHOP) combination chemotherapy. ( 26968188 )
2017
45
Reply to Thomas Van den Broeck, R. Jeffrey Karnes, and Steven Joniau's Letter to the Editor re: Amar U. Kishan, Talha Shaikh, Pin-Chieh Wang, et al. Clinical Outcomes for Patients with Gleason Score 9-10 Prostate Adenocarcinoma Treated With Radiotherapy or Radical Prostatectomy: A Multi-institutional Comparative Analysis. Eur Urol 2016. In press. http://dx.doi.org/10.1016/j.eururo.2016.06.046. ( 28111115 )
2017
46
CD30 expression and prognostic significance in R-EPOCH-treated patients with diffuse large B-cell lymphoma. ( 27816715 )
2017
47
Repeated Administration of Opra Kappa (LY2456302), a Novel, Short-Acting, Selective KOP-r Antagonist, in Persons with and without Cocaine Dependence. ( 28857070 )
2017
48
Hu antigen R (HuR) multimerization contributes to glioma disease progression. ( 28790173 )
2017
49
Treatment of grey zone lymphoma using the R-CODOX-M/R-IVAC protocol: Two case reports. ( 28953641 )
2017
50
Human THO-Sin3A interaction reveals new mechanisms to prevent R-loops that cause genomeA instability. ( 29074626 )
2017

Variations for Ring Chromosome Y Syndrome

Expression for Ring Chromosome Y Syndrome

Search GEO for disease gene expression data for Ring Chromosome Y Syndrome.

Pathways for Ring Chromosome Y Syndrome

GO Terms for Ring Chromosome Y Syndrome

Sources for Ring Chromosome Y Syndrome

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