R
MCID: RNG031
MIFTS: 13

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 male hypogonadism

Related Diseases for Ring Chromosome Y Syndrome

Symptoms & Phenotypes for Ring Chromosome Y Syndrome

Human phenotypes related to Ring Chromosome Y Syndrome:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 female infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0008222
2 male hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000026
3 azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000027
4 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
5 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
6 ambiguous genitalia, male 59 32 frequent (33%) Frequent (79-30%) HP:0000033
7 urogenital sinus anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0100779
8 gonadal dysgenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000133
9 unilateral cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0012741
10 ambiguous genitalia, female 59 32 frequent (33%) Frequent (79-30%) HP:0000061
11 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
12 gonadoblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000150
13 bifid scrotum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000048
14 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000771
15 perineal hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000051
16 streak ovary 59 32 occasional (7.5%) Occasional (29-5%) HP:0010464
17 cryptorchidism 59 Very frequent (99-80%)
18 hypospadias 59 Frequent (79-30%)
19 ambiguous genitalia 59 Frequent (79-30%)
20 abnormal spermatogenesis 59 Very frequent (99-80%)
21 abnormality of the male genitalia 59 Frequent (79-30%)
22 abnormality of the female genitalia 59 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:

41
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. 38
25381945 2015
2
[45X/46XY/46XrY mosaic with banding and the Turner phenotype (author's transl)]. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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