DSS
MCID: DSG001
MIFTS: 39

Dosage-Sensitive Sex Reversal (DSS) malady

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Summaries for Dosage-Sensitive Sex Reversal

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MalaCards: Dosage-Sensitive Sex Reversal, also known as DSS, is related to hyperandrogenism and dengue shock syndrome. An important gene associated with Dosage-Sensitive Sex Reversal is NR0B1 (nuclear receptor subfamily 0, group B, member 1), and among its related pathways are Metabolism of steroid hormones and vitamin D and Wnt Pathway. The compounds di-n-butyl phthalate and monobutyl phthalate have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and muscle.

Aliases & Classifications for Dosage-Sensitive Sex Reversal

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43NIH Rare Diseases, 62UMLS
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

dosage-sensitive sex reversal 43 62
dss 43


Related Diseases for Dosage-Sensitive Sex Reversal

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17GeneCards, 18GeneDecks
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Diseases related to Dosage-Sensitive Sex Reversal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hyperandrogenism30.5NR3C1, CYP11A1
2dengue shock syndrome10.5
3dengue hemorrhagic fever10.3
4hemorrhagic fever10.3
5nr0b1-related 46,xy dsd and 46,xy cgd10.3
6charcot-marie-tooth disease type 4e10.2
7ulcerative colitis10.1
846xy sex reversal 310.1NR5A1
9adrenocortical carcinoma10.1NR5A1
10lipoid adrenal hyperplasia10.1STAR
11gonadal dysgenesis10.1NR5A1, NR0B1
12congenital adrenal insufficiency10.1STAR, CYP11A1
1346,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.1NR0B1, WNT4, NR5A1
14kallmann syndrome10.1NR5A1, NR0B1, ESRRB
15klinefelter's syndrome10.1NR0B1, NR5A1
16premature ovarian failure10.1CYP11A1, STAR
17congenital adrenal hyperplasia10.0STAR, NR5A1, CYP11A1
18ovarian disease10.0ESR1, STAR
19embryonal cancer10.0NR5A1, NR1H2, ESRRB
20polycystic ovary syndrome10.0STAR, CYP11A1
21choriocarcinoma10.0CYP11A1, STAR, NR5A1
22nephroblastoma10.0CTNNB1, NR5A1
23wilms tumor10.0NR0B1, NR5A1, CTNNB1
24x-linked adrenal hypoplasia congenita10.0NR5A1, ESRRB, NR0B1, STAR
25leydig cell tumor10.0CYP11A1, NR0B1, NR5A1, STAR
26tubular adenocarcinoma10.0CTNNB1, ESR1
27pituitary adenoma10.0NR5A1, NR0B1, NR3C1
28discrete subaortic stenosis10.0
29charcot-marie-tooth disease type 410.0
30colon cancer10.0
31charcot-marie-tooth disease type 1b10.0
32hypertrophic neuropathy of dejerine-sottas10.0
33dengue fever, protection against10.0
34charcot-marie-tooth disease, type 4f10.0
35cushing's syndrome10.0NR3C1, NR0B1, CYP11A1
36abrikosov's tumor10.0NR5A1, CYP11A1, STAR, ESR1
37endometriosis10.0ESR1, STAR, NR5A1, CYP11A1
38endometrial carcinoma10.0ESR1, CTNNB1
39adenoma10.0CYP11A1, CTNNB1, NR5A1, NR0B1
40osteoporosis10.0NR3C1, ESR1, NR1H2
41infertility9.9CYP11A1, ESR1, STAR, NR1H2, NR5A1
42addison's disease9.9NR1H2, CYP11A1, ESRRB, STAR, NR5A1, NR0B1
43ovarian cancer9.9CTNNB1, NR1H2, ESR1, ESRRB
44breast cancer9.9ESR1, CTNNB1, NR1H2, STAR
45adrenal adenoma9.9NR1H2, NR0B1, NR5A1, STAR, CYP11A1, CTNNB1
46type 2 diabetes mellitus9.9STAR, NR1H2, NR3C1
47adenocarcinoma9.9NR5A1, NR3C1, CTNNB1, STAR, ESR1
48obesity9.8NR0B2, CYP11A1, ESRRB, NR1H2, STAR, NR5A1
49prostate cancer9.8ESRRB, NR3C1, CYP11A1, ESR1, NR0B1, NR1H2

Graphical network of the top 20 diseases related to Dosage-Sensitive Sex Reversal:



Diseases related to dosage-sensitive sex reversal

Symptoms for Dosage-Sensitive Sex Reversal

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Drugs & Therapeutics for Dosage-Sensitive Sex Reversal

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42NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Dosage-Sensitive Sex Reversal

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Anatomical Context for Dosage-Sensitive Sex Reversal

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Animal Models for Dosage-Sensitive Sex Reversal or affiliated genes

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37MGI
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Publications for Dosage-Sensitive Sex Reversal

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52PubMed
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Articles related to Dosage-Sensitive Sex Reversal:

(show all 13)
idTitleAuthorsYear
1
MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromosome, gene 1 (DAX-1). (24104199)
2014
2
Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. (23612644)
2013
3
GnRH pulse frequency differentially regulates steroidogenic factor 1 (SF1), dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1 (DAX1), and serum response factor (SRF): potential mechanism for GnRH pulse frequency regulation of LH beta transcription in the rat. (21409515)
2011
4
Role of dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene 1 in protein kinase A- and protein kinase C-mediated regulation of the steroidogenic acute regulatory protein expression in mouse Leydig tumor cells: mechanism of action. (18787026)
2009
5
DAX-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X-chromosome, gene 1) selectively inhibits transactivation but not transrepression mediated by the glucocorticoid receptor in a LXXLL-dependent manner. (18417736)
2008
6
Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. (16709599)
2006
7
Regulation of steroidogenesis and steroidogenic acute regulatory protein in R2C cells by DAX-1 (dosage-sensitive sex reversal, adrenal hypoplasia congenita, critical region on the X chromosome, gene-1). (15358680)
2004
8
Generation of two distinct functional isoforms of dosage-sensitive sex reversal-adrenal hypoplasia congenita-critical region on the X chromosome gene 1 (DAX-1) by alternative splicing. (15044589)
2004
9
Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad. (12554773)
2003
10
Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1). (12610109)
2003
11
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women. (11297612)
2001
12
Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans. (11283799)
2001
13
Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal. (8840552)
1996

Variations for Dosage-Sensitive Sex Reversal

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Expression for genes affiliated with Dosage-Sensitive Sex Reversal

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dosage-Sensitive Sex Reversal

Search GEO for disease gene expression data for Dosage-Sensitive Sex Reversal.

Pathways for genes affiliated with Dosage-Sensitive Sex Reversal

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 61Tocris Bioscience, 60Thomson Reuters, 54R&D Systems, 30KEGG
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Pathways related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9CYP11A1, STAR
2
Show member pathways
9.8CTNNB1, WNT4
3
Show member pathways
9.6CYP11A1, STAR, NR5A1
49.6KAT2A, TRRAP
5
Show member pathways
Wnt Signaling Pathway NetPath38
9.6WNT4, CTNNB1, NR5A1
6
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.5CTNNB1, WNT4, ESRRB
79.5ESR1, NR3C1
89.4CYP11A1, CTNNB1, STAR
99.3ESR1, CTNNB1, WNT4
109.0ESR1, KAT2A, NR3C1
118.9KAT2A, WNT4, CTNNB1, TRRAP
128.8KAT2A, CTNNB1, WNT4, ESR1
13
Show member pathways
Nuclear Receptors38
8.1ESR1, NR5A1, NR0B1, NR3C1, NR0B2, NR1H2
14
Show member pathways
7.6NR1H2, ESR1, KAT2A, NR0B2, NR3C1, ESRRB

Compounds for genes affiliated with Dosage-Sensitive Sex Reversal

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45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
1di-n-butyl phthalate4510.1CYP11A1, STAR
2monobutyl phthalate4510.1CYP11A1, STAR
3ecdysone4510.0ESRRB, NR1H2, NR5A1
427-hydroxycholesterol45 2910.9CYP11A1, STAR, NR1H2
5(z)-4-hydroxytamoxifen619.8ESR1, ESRRB
6phtpp61 2910.8ESRRB, ESR1
7chenodeoxycholic acid45 29 24 1112.8ESRRB, NR0B2, NR1H2
8ici 182,780619.8ESR1, ESRRB
9ppt61 2910.7ESR1, ESRRB
103beta-hydroxysteroid459.7NR5A1, STAR, ESRRB, CYP11A1
1122r-hydroxycholesterol45 2910.7NR1H2, NR5A1, STAR, CYP11A1
12ouabain45 1110.7STAR, CYP11A1, CTNNB1
13dpn619.7ESR1, ESRRB
14ketoconazole45 29 24 1112.6NR1H2, NR3C1, CYP11A1
15cyproteroneacetate459.6NR1H2, NR3C1, CTNNB1
16aminoglutethimide45 1110.5ESR1, CYP11A1, NR3C1
17androstane459.5ESRRB, NR3C1, NR0B2, NR1H2
18dhea459.5NR3C1, CYP11A1, STAR, NR5A1
19rifampicin45 29 6111.5ESRRB, NR3C1, NR1H2, NR0B2
20diethylstilbestrol45 29 1111.5NR5A1, ESRRB, ESR1, STAR
21fluoxymesterone45 1110.5NR3C1, ESR1
2217beta-hydroxysteroid459.5ESR1, CYP11A1, STAR, NR5A1
23bicalutamide45 61 1111.5CTNNB1, NR1H2, ESR1
24sterol459.4STAR, CYP11A1, NR1H2, ESRRB, NR5A1
25phenobarbital45 29 51 1112.3ESRRB, NR3C1, NR1H2, CTNNB1
26steroidal459.3ESRRB, ESR1, NR3C1, NR1H2
27corticosterone45 61 2411.2NR1H2, NR3C1, STAR, CYP11A1, NR5A1
285-aza-2deoxycytidine459.2NR1H2, CTNNB1, ESR1, NR5A1
29acth459.1ESRRB, STAR, NR0B1, NR5A1, NR3C1, CYP11A1
30geldanamycin45 51 61 1112.1ESR1, NR1H2, CTNNB1, NR3C1
31mifepristone45 29 61 1112.1CTNNB1, NR1H2, NR3C1, ESR1
32progestins459.1NR1H2, NR3C1, ESR1
33leptomycin b45 6110.0CTNNB1, NR1H2, NR3C1
34progestin459.0NR3C1, ESR1, CYP11A1, STAR, NR1H2
35actinomycin d458.9NR3C1, NR5A1, STAR, ESR1, CYP11A1
36cholesterol45 29 24 1111.9NR0B2, NR5A1, CYP11A1, ESRRB, STAR, NR0B1
374-hydroxytamoxifen458.9NR3C1, ESRRB, ESR1, NR1H2, CTNNB1
38dihydrotestosterone45 29 24 1111.9CYP11A1, ESR1, CTNNB1, NR1H2, NR3C1
39vitamin d458.8NR3C1, NR1H2, CTNNB1, NR5A1, ESR1
40mg 13245 619.8CTNNB1, NR1H2, NR3C1, STAR, ESR1
41retinoid458.6CTNNB1, NR1H2, ESRRB, NR3C1, ESR1, NR5A1
42cycloheximide458.6NR3C1, NR5A1, CTNNB1, STAR, ESR1, CYP11A1
43dexamethasone45 51 29 1111.5CTNNB1, NR1H2, NR3C1, NR0B1, STAR, ESRRB
44estradiol45 24 1110.4NR5A1, STAR, ESR1, ESRRB, CYP11A1, NR1H2
45retinoic acid45 249.3CYP11A1, ESRRB, ESR1, NR5A1, NR3C1, CTNNB1
46gnrh458.3NR1H2, ESRRB, CTNNB1, ESR1, STAR, NR5A1
47testosterone45 61 24 1110.8WNT4, ESR1, NR5A1, CYP11A1, NR0B1, NR3C1
48steroid457.6ESRRB, ESR1, STAR, NR1H2, NR0B2, NR3C1
49estrogen457.6NR0B2, CYP11A1, ESRRB, ESR1, NR1H2, STAR
50progesterone45 29 61 24 1111.5ESR1, ESRRB, WNT4, NR5A1, NR0B1, NR3C1

GO Terms for genes affiliated with Dosage-Sensitive Sex Reversal

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16Gene Ontology
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Cellular components related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial cristaGO:0300619.9STAR, CYP11A1
2transcription factor TFTC complexGO:0332769.6TRRAP, KAT2A
3STAGA complexGO:0309149.5TRRAP, KAT2A
4nucleusGO:0056347.1TRRAP, CTNNB1, NR1H2, NR0B2, NR3C1, NR0B1
5nucleoplasmGO:0056546.9NR0B2, NR0B1, NR1H2, CTNNB1, TRRAP, NR5A1

Biological processes related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1fractalkine metabolic processGO:05075610.3CYP11A1, STAR
2response to fungicideGO:06099210.2CYP11A1, STAR
3dibenzo-p-dioxin metabolic processGO:01889410.2CYP11A1, STAR
4biphenyl metabolic processGO:01887910.2CYP11A1, STAR
5testosterone biosynthetic processGO:06137010.2CYP11A1, STAR
6regulation of steroid biosynthetic processGO:05081010.2STAR, NR5A1
7phthalate metabolic processGO:01896310.2CYP11A1, STAR
8phenol-containing compound metabolic processGO:01895810.2CYP11A1, STAR
9Leydig cell differentiationGO:03332710.2NR0B1, CYP11A1
10renal vesicle formationGO:07203310.2WNT4, CTNNB1
11C21-steroid hormone biosynthetic processGO:00670010.2STAR, CYP11A1
12progesterone biosynthetic processGO:00670110.2STAR, CYP11A1
13cellular response to follicle-stimulating hormone stimulusGO:07137210.2CYP11A1, STAR
14estrogen biosynthetic processGO:00670310.2STAR, CYP11A1
15cellular response to antibioticGO:07123610.1CYP11A1, STAR
16intracellular receptor signaling pathwayGO:03052210.1ESRRB, NR5A1, NR0B1
17cellular response to cadmium ionGO:07127610.1CYP11A1, STAR
18glucocorticoid metabolic processGO:00821110.1STAR, NR3C1
19oocyte developmentGO:04859910.1CTNNB1, WNT4
20cellular response to fibroblast growth factor stimulusGO:04434410.0STAR, CYP11A1
21negative regulation of apoptotic signaling pathwayGO:200123410.0WNT4, CTNNB1
22cellular response to transforming growth factor beta stimulusGO:07156010.0CYP11A1, STAR, WNT4
23steroid biosynthetic processGO:00669410.0NR0B1, STAR
24negative regulation of cell differentiationGO:04559610.0NR0B1, WNT4
25smooth muscle cell differentiationGO:05114510.0CTNNB1, WNT4
26response to corticosteroneGO:05141210.0CYP11A1, STAR
27cholesterol metabolic processGO:00820310.0CYP11A1, STAR, NR0B2
28histone deubiquitinationGO:0165789.9KAT2A, TRRAP
29negative regulation of sequence-specific DNA binding transcription factor activityGO:0434339.8ESR1, NR0B1, NR0B2
30epithelial to mesenchymal transitionGO:0018379.7CTNNB1, WNT4
31adrenal gland developmentGO:0303259.7WNT4, NR5A1, NR0B1, NR3C1
32response to hydrogen peroxideGO:0425429.6STAR, CYP11A1
33negative regulation of transcription, DNA-templatedGO:0458929.4CTNNB1, NR1H2, NR0B1, WNT4
34male gonad developmentGO:0085849.3ESR1, STAR, WNT4, NR5A1, NR0B1
35negative regulation of transcription from RNA polymerase II promoterGO:0001229.2NR0B1, NR0B2, NR1H2, CTNNB1
36positive regulation of transcription from RNA polymerase II promoterGO:0459449.0ESRRB, ESR1, NR5A1, NR1H2, CTNNB1
37transcription initiation from RNA polymerase II promoterGO:0063678.6NR1H2, NR0B2, NR3C1, NR0B1, NR5A1, ESR1
38gene expressionGO:0104678.6ESRRB, ESR1, NR5A1, NR0B1, NR3C1, NR0B2

Molecular functions related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1retinoid X receptor bindingGO:04696510.0NR1H2, NR0B2
2transcription corepressor activityGO:0037149.8NR0B2, NR0B1, WNT4
3ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.6ESRRB, NR5A1, NR0B1, NR1H2
4cholesterol bindingGO:0154859.6STAR, CYP11A1
5steroid bindingGO:0054969.4NR3C1, ESR1, ESRRB
6enzyme bindingGO:0198999.3CTNNB1, NR5A1, ESR1
7transcription factor bindingGO:0081349.2CTNNB1, NR0B1, ESR1, ESRRB
8sequence-specific DNA bindingGO:0435659.1ESRRB, NR5A1, NR0B1, NR3C1, NR1H2
9chromatin bindingGO:0036828.9KAT2A, ESR1, NR5A1, CTNNB1
10transcription coactivator activityGO:0037138.9KAT2A, ESRRB, NR5A1, CTNNB1, TRRAP
11steroid hormone receptor activityGO:0037078.9NR1H2, NR0B2, NR0B1, NR5A1, ESR1, ESRRB
12zinc ion bindingGO:0082708.6ESRRB, ESR1, NR5A1, NR3C1, NR1H2
13protein bindingGO:0055157.0KAT2A, ESR1, NR5A1, NR0B1, NR3C1, NR0B2

Products for genes affiliated with Dosage-Sensitive Sex Reversal

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4CDC
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26ICD10 via Orphanet
27ICD9CM
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