R
MCID: RNG031
MIFTS: 15

Ring Chromosome Y Syndrome (R)

Categories: Eye diseases, Fetal diseases, Immune diseases, Neuronal diseases, Rare 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. Affiliated tissues include ovary, and related phenotypes are female infertility and azoospermia

Related Diseases for Ring Chromosome Y Syndrome

Symptoms & Phenotypes for Ring Chromosome Y Syndrome

Human phenotypes related to Ring Chromosome Y Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 female infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0008222
2 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
3 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
4 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 ambiguous genitalia, male 58 31 frequent (33%) Frequent (79-30%) HP:0000033
7 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
8 gonadal dysgenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000133
9 ambiguous genitalia, female 58 31 frequent (33%) Frequent (79-30%) HP:0000061
10 unilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0012741
11 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
12 gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000150
13 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
14 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
15 perineal hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000051
16 streak ovary 58 31 occasional (7.5%) Occasional (29-5%) HP:0010464
17 cryptorchidism 58 Very frequent (99-80%)
18 hypospadias 58 Frequent (79-30%)
19 ambiguous genitalia 58 Frequent (79-30%)
20 abnormality of the male genitalia 58 Frequent (79-30%)
21 abnormality of the female genitalia 58 Frequent (79-30%)
22 abnormal spermatogenesis 58 Very frequent (99-80%)

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:

40
Ovary

Publications for Ring Chromosome Y Syndrome

Articles related to Ring Chromosome Y Syndrome:

# Title Authors PMID Year
1
Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience. 61
25381945 2015
2
[45X/46XY/46XrY mosaic with banding and the Turner phenotype (author's transl)]. 61
7252090 1981

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

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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