SRXY2
MCID: 46X026
MIFTS: 20

46xy Sex Reversal 2, Dosage-Sensitive (SRXY2) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for 46xy Sex Reversal 2, Dosage-Sensitive

Aliases & Descriptions for 46xy Sex Reversal 2, Dosage-Sensitive:

Name: 46xy Sex Reversal 2, Dosage-Sensitive 54 13
Dosage-Sensitive Sex Reversal 50 66 69
46,xy Sex Reversal 2 66 29
Dss 50 66
46, Xy Disorders of Sex Development 42
46,xy Sex Reversal Dax1-Related 66
Srxy2 66

Characteristics:

HPO:

32
46xy sex reversal 2, dosage-sensitive:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 300018
MedGen 40 C1848296
MeSH 42 D058490

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

UniProtKB/Swiss-Prot : 66 46,XY sex reversal 2: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

MalaCards based summary : 46xy Sex Reversal 2, Dosage-Sensitive, also known as dosage-sensitive sex reversal, is related to nr0b1-related 46,xy dsd and 46,xy cgd and dengue shock syndrome, and has symptoms including sex reversal An important gene associated with 46xy Sex Reversal 2, Dosage-Sensitive is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1).

Description from OMIM: 300018

Related Diseases for 46xy Sex Reversal 2, Dosage-Sensitive

Diseases related to 46xy Sex Reversal 2, Dosage-Sensitive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
id Related Disease Score Top Affiliating Genes
1 nr0b1-related 46,xy dsd and 46,xy cgd 11.5
2 dengue shock syndrome 11.2
3 46, xy disorders of sexual development 11.1
4 neuropathy, congenital hypomyelinating 11.0
5 dejerine-sottas disease 11.0
6 46xy sex reversal 1 10.9
7 charcot-marie-tooth disease, type 1b 10.8
8 dengue fever, protection against 10.8
9 charcot-marie-tooth disease, type 4f 10.8
10 colitis 10.4
11 dengue hemorrhagic fever 10.1
12 hemorrhagic fever 10.1
13 hypospadias 10.0
14 androgen insensitivity 10.0
15 ulcerative colitis 9.9
16 hyperandrogenism 9.8
17 discrete subaortic stenosis 9.7
18 insulin-like growth factor i 9.7

Graphical network of the top 20 diseases related to 46xy Sex Reversal 2, Dosage-Sensitive:



Diseases related to 46xy Sex Reversal 2, Dosage-Sensitive

Symptoms & Phenotypes for 46xy Sex Reversal 2, Dosage-Sensitive

Symptoms by clinical synopsis from OMIM:

300018

Clinical features from OMIM:

300018

Human phenotypes related to 46xy Sex Reversal 2, Dosage-Sensitive:

32
id Description HPO Frequency HPO Source Accession
1 sex reversal 32 HP:0012245

Drugs & Therapeutics for 46xy Sex Reversal 2, Dosage-Sensitive

Search Clinical Trials , NIH Clinical Center for 46xy Sex Reversal 2, Dosage-Sensitive

Cochrane evidence based reviews: 46, xy disorders of sex development

Genetic Tests for 46xy Sex Reversal 2, Dosage-Sensitive

Genetic tests related to 46xy Sex Reversal 2, Dosage-Sensitive:

id Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 2 29

Anatomical Context for 46xy Sex Reversal 2, Dosage-Sensitive

Publications for 46xy Sex Reversal 2, Dosage-Sensitive

Variations for 46xy Sex Reversal 2, Dosage-Sensitive

ClinVar genetic disease variations for 46xy Sex Reversal 2, Dosage-Sensitive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NR0B1 NR0B1, DUP duplication Pathogenic

Expression for 46xy Sex Reversal 2, Dosage-Sensitive

Search GEO for disease gene expression data for 46xy Sex Reversal 2, Dosage-Sensitive.

Pathways for 46xy Sex Reversal 2, Dosage-Sensitive

GO Terms for 46xy Sex Reversal 2, Dosage-Sensitive

Sources for 46xy Sex Reversal 2, Dosage-Sensitive

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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