MCID: 46X026
MIFTS: 21

46xy Sex Reversal 2, Dosage-Sensitive malady

Genetic diseases, Rare diseases categories

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

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

Name: 46xy Sex Reversal 2, Dosage-Sensitive 49 11
Dosage-Sensitive Sex Reversal 45 65 67
Dss 45 67
46,xy Sex Reversal Dax1-Related 67
 
46,xy Sex Reversal, Type 2 24
46,xy Sex Reversal 2 67
Srxy2 67


Classifications:



External Ids:

OMIM49 300018
MedGen34 C1848296
MeSH36 D058490

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

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UniProtKB/Swiss-Prot:67 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 colitis and dengue shock syndrome, and has symptoms including x-linked inheritanceand 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:49 300018

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

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1colitis10.6
2dengue shock syndrome10.5
3dengue hemorrhagic fever10.4
4hemorrhagic fever10.4
5hyperandrogenism10.3
6nr0b1-related 46,xy dsd and 46,xy cgd10.3
7neuropathy, congenital hypomyelinating10.3
8dejerine-sottas disease10.1
9coronary heart disease 510.1
10ulcerative colitis10.1
1146xy sex reversal 110.1
12charcot-marie-tooth disease, type 1b10.0
13coronary heart disease 210.0
14diabetes mellitus, noninsulin-dependent10.0
15diabetes mellitus, noninsulin-dependent 110.0
16mody, type ii10.0
17coronary heart disease 710.0
18coronary heart disease 610.0
19diabetes mellitus, insulin-dependent10.0
20diabetes mellitus, noninsulin-dependent, 210.0
21coronary heart disease 410.0
22familial mediterranean fever, ar10.0
23dengue fever, protection against10.0
24charcot-marie-tooth disease, type 4f10.0
25coronary heart disease 310.0
26child syndrome10.0
27west syndrome10.0
28bone fracture10.0
29chronic kidney failure10.0
30congestive heart failure10.0
31dengue disease10.0
32pseudoarthrosis10.0
33spondylolisthesis10.0
34spondylosis10.0
35spondylolysis10.0
36hypercalcemia10.0
37discrete subaortic stenosis10.0
38metabolic syndrome x10.0
39secondary syphilis10.0
40capillary disease10.0
41congenital heart disease10.0
42glucose metabolism disease10.0
43stomach disease10.0
44viral infectious disease10.0
45kid syndrome10.0
46viral hemorrhagic fever10.0
47back pain10.0

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 for 46xy Sex Reversal 2, Dosage-Sensitive

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Symptoms by clinical synopsis from OMIM:

300018

Clinical features from OMIM:

300018

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

id Description Frequency HPO Source Accession
1 x-linked inheritance HP:0001417
2 sex reversal HP:0012245

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 224

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

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Animal Models for 46xy Sex Reversal 2, Dosage-Sensitive or affiliated genes

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Publications for 46xy Sex Reversal 2, Dosage-Sensitive

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Variations for 46xy Sex Reversal 2, Dosage-Sensitive

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR0B1NR0B1, DUPduplicationPathogenic

Expression for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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

Pathways for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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

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Sources for 46xy Sex Reversal 2, Dosage-Sensitive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet