MCID: SRY003
MIFTS: 9

Sry-Related 46,xy Dsd and 46,xy Cgd malady

Categories: Genetic diseases

Aliases & Classifications for Sry-Related 46,xy Dsd and 46,xy Cgd

Aliases & Descriptions for Sry-Related 46,xy Dsd and 46,xy Cgd:

Name: Sry-Related 46,xy Dsd and 46,xy Cgd 24
Swyer Syndrome 24 69
Gonadal Dysgenesis, 46,xy 69
46,xy Gonadal Dysgenesis 24
46,xy Sex Reversal 24
Xy Sex Reversal 24

Classifications:



Summaries for Sry-Related 46,xy Dsd and 46,xy Cgd

MalaCards based summary : Sry-Related 46,xy Dsd and 46,xy Cgd, also known as swyer syndrome, is related to adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete and campomelic dysplasia. An important gene associated with Sry-Related 46,xy Dsd and 46,xy Cgd is SRY (Sex Determining Region Y).

Related Diseases for Sry-Related 46,xy Dsd and 46,xy Cgd

Diseases related to Sry-Related 46,xy Dsd and 46,xy Cgd via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete 11.9
2 campomelic dysplasia 11.4
3 46xy partial gonadal dysgenesis, with minifascicular neuropathy 11.3
4 46xy sex reversal 7 11.3
5 46xy sex reversal 1 11.3
6 46 xy gonadal dysgenesis 11.1
7 46xy sex reversal 6 11.1
8 cbx2-related 46,xy dsd and 46,xy cgd 11.1
9 46xy sex reversal 3 11.1
10 46xy sex reversal 5 11.1
11 gonadal dysgenesis 10.7
12 gonadoblastoma 10.3
13 nephrotic syndrome 9.9
14 amenorrhea 9.9
15 turner syndrome 9.9
16 hermaphroditism 9.9
17 androgen insensitivity 9.9

Graphical network of the top 20 diseases related to Sry-Related 46,xy Dsd and 46,xy Cgd:



Diseases related to Sry-Related 46,xy Dsd and 46,xy Cgd

Symptoms & Phenotypes for Sry-Related 46,xy Dsd and 46,xy Cgd

Drugs & Therapeutics for Sry-Related 46,xy Dsd and 46,xy Cgd

Search Clinical Trials , NIH Clinical Center for Sry-Related 46,xy Dsd and 46,xy Cgd

Genetic Tests for Sry-Related 46,xy Dsd and 46,xy Cgd

Genetic tests related to Sry-Related 46,xy Dsd and 46,xy Cgd:

id Genetic test Affiliating Genes
1 Sry-Related 46,xy Dsd and 46,xy Cgd 24 SRY

Anatomical Context for Sry-Related 46,xy Dsd and 46,xy Cgd

Publications for Sry-Related 46,xy Dsd and 46,xy Cgd

Variations for Sry-Related 46,xy Dsd and 46,xy Cgd

Copy number variations for Sry-Related 46,xy Dsd and 46,xy Cgd from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 57472 11 63400000 77100000 Copy number SF1 XY sex reversal
2 115448 17 57600000 62600000 Amplification SOX9 XY sex reversal

Expression for Sry-Related 46,xy Dsd and 46,xy Cgd

Search GEO for disease gene expression data for Sry-Related 46,xy Dsd and 46,xy Cgd.

Pathways for Sry-Related 46,xy Dsd and 46,xy Cgd

GO Terms for Sry-Related 46,xy Dsd and 46,xy Cgd

Sources for Sry-Related 46,xy Dsd and 46,xy Cgd

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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