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 based summary: Dosage-Sensitive Sex Reversal, also known as DSS, is related to hyperandrogenism and colitis. 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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Dosage-Sensitive Sex Reversal, Aliases & Descriptions:

Name: Dosage-Sensitive Sex Reversal 42 62
 
Dss 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Dosage-Sensitive Sex Reversal

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hyperandrogenism30.6NR3C1, CYP11A1
2colitis10.6
346xy sex reversal 310.5NR5A1
4adrenocortical carcinoma10.5NR5A1
5lipoid adrenal hyperplasia10.5STAR
6dengue shock syndrome10.5
7gonadal dysgenesis10.4NR0B1, NR5A1
8dengue hemorrhagic fever10.3
9charcot-marie-tooth disease type 410.3
10hemorrhagic fever10.3
11congenital adrenal insufficiency10.3STAR, CYP11A1
1246,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.3WNT4, NR5A1, NR0B1
13kallmann syndrome10.3ESRRB, NR5A1, NR0B1
14pyridoxine-refractory autosomal recessive sideroblastic anemia10.3NR0B1, STAR
15klinefelter's syndrome10.2NR0B1, NR5A1
16premature ovarian failure10.2STAR, CYP11A1
17congenital adrenal hyperplasia10.2CYP11A1, STAR, NR5A1
18ovarian disease10.2STAR, ESR1
19ulcerative colitis10.2
20embryonal cancer10.1ESRRB, NR5A1, NR1H2
21polycystic ovary syndrome10.1CYP11A1, STAR
22choriocarcinoma10.1NR5A1, STAR, CYP11A1
23wilms tumor10.1CTNNB1, NR0B1, NR5A1
24nephroblastoma10.1NR5A1, CTNNB1
25x-linked adrenal hypoplasia congenita10.1ESRRB, STAR, NR5A1, NR0B1
26leydig cell tumor10.1NR0B1, NR5A1, STAR, CYP11A1
27tubular adenocarcinoma10.1CTNNB1, ESR1
28pituitary adenoma10.0NR3C1, NR0B1, NR5A1
29discrete subaortic stenosis10.0
30hypercalcemia10.0
31colon cancer10.0
32charcot-marie-tooth disease type 1b10.0
33hypertrophic neuropathy of dejerine-sottas10.0
34dengue fever, protection against10.0
35charcot-marie-tooth disease, type 4f10.0
36cushing's syndrome10.0CYP11A1, NR0B1, NR3C1
37abrikosov's tumor10.0NR5A1, STAR, ESR1, CYP11A1
38endometriosis9.9NR5A1, STAR, ESR1, CYP11A1
39adenoma9.9CYP11A1, NR5A1, NR0B1, CTNNB1
40endometrial carcinoma9.9CTNNB1, ESR1
41osteoporosis9.8ESR1, NR3C1, NR1H2
42infertility9.8CYP11A1, ESR1, STAR, NR5A1, NR1H2
43addison's disease9.7NR1H2, NR0B1, NR5A1, STAR, ESRRB, CYP11A1
44ovarian cancer9.7ESRRB, ESR1, NR1H2, CTNNB1
45breast cancer9.7ESR1, STAR, NR1H2, CTNNB1
46adrenal cortical adenoma9.6CYP11A1, STAR, NR5A1, NR0B1, NR1H2, CTNNB1
47type 2 diabetes mellitus9.6STAR, NR3C1, NR1H2
48adenocarcinoma9.5ESR1, STAR, NR5A1, NR3C1, CTNNB1
49obesity9.3CYP11A1, ESRRB, STAR, NR5A1, NR0B1, NR3C1
50prostate cancer9.2CYP11A1, ESRRB, ESR1, NR0B1, NR3C1, 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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Drug clinical trials:

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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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Publications for Dosage-Sensitive Sex Reversal

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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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Expression patterns in normal tissues for genes affiliated with Dosage-Sensitive Sex Reversal

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Pathways for genes affiliated with Dosage-Sensitive Sex Reversal

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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
9.9STAR, CYP11A1
2
Show member pathways
9.8WNT4, CTNNB1
3
Show member pathways
9.6NR5A1, STAR, CYP11A1
49.6KAT2A, TRRAP
5
Show member pathways
Wnt Signaling Pathway NetPath37
9.6WNT4, NR5A1, CTNNB1
6
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.5CTNNB1, WNT4, ESRRB
79.5ESR1, NR3C1
89.4CTNNB1, STAR, CYP11A1
99.3ESR1, WNT4, CTNNB1
109.0KAT2A, ESR1, NR3C1
118.9TRRAP, CTNNB1, WNT4, KAT2A
128.8KAT2A, ESR1, WNT4, CTNNB1
13
Show member pathways
Nuclear Receptors37
8.1NR1H2, ESRRB, ESR1, NR5A1, NR0B1, NR3C1
14
Show member pathways
7.6KAT2A, ESRRB, ESR1, NR5A1, NR0B1, NR3C1

Compounds for genes affiliated with Dosage-Sensitive Sex Reversal

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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 phthalate4410.1CYP11A1, STAR
2monobutyl phthalate4410.1CYP11A1, STAR
3ecdysone4410.0ESRRB, NR1H2, NR5A1
427-hydroxycholesterol44 2810.9CYP11A1, STAR, NR1H2
5(z)-4-hydroxytamoxifen619.8ESR1, ESRRB
6phtpp61 2810.8ESRRB, ESR1
7chenodeoxycholic acid44 28 24 1112.8ESRRB, NR0B2, NR1H2
8ici 182,780619.8ESR1, ESRRB
9ppt61 2810.7ESR1, ESRRB
103beta-hydroxysteroid449.7NR5A1, STAR, ESRRB, CYP11A1
1122r-hydroxycholesterol44 2810.7NR1H2, NR5A1, STAR, CYP11A1
12ouabain44 1110.7STAR, CYP11A1, CTNNB1
13dpn619.7ESR1, ESRRB
14ketoconazole44 28 24 1112.6NR1H2, NR3C1, CYP11A1
15cyproteroneacetate449.6NR1H2, NR3C1, CTNNB1
16aminoglutethimide44 1110.5ESR1, CYP11A1, NR3C1
17androstane449.5ESRRB, NR3C1, NR0B2, NR1H2
18dhea449.5NR3C1, CYP11A1, STAR, NR5A1
19rifampicin44 28 6111.5ESRRB, NR3C1, NR1H2, NR0B2
20diethylstilbestrol44 28 1111.5NR5A1, ESRRB, ESR1, STAR
21fluoxymesterone44 1110.5NR3C1, ESR1
2217beta-hydroxysteroid449.5ESR1, CYP11A1, STAR, NR5A1
23bicalutamide44 61 1111.5CTNNB1, NR1H2, ESR1
24sterol449.4STAR, CYP11A1, NR1H2, ESRRB, NR5A1
25phenobarbital44 28 50 1112.3ESRRB, NR3C1, NR1H2, CTNNB1
26steroidal449.3ESRRB, ESR1, NR3C1, NR1H2
27corticosterone44 61 2411.2NR1H2, NR3C1, STAR, CYP11A1, NR5A1
285-aza-2deoxycytidine449.2NR1H2, CTNNB1, ESR1, NR5A1
29acth449.1ESRRB, STAR, NR0B1, NR5A1, NR3C1, CYP11A1
30geldanamycin44 50 61 1112.1ESR1, NR1H2, CTNNB1, NR3C1
31mifepristone44 28 61 1112.1CTNNB1, NR1H2, NR3C1, ESR1
32progestins449.1NR1H2, NR3C1, ESR1
33leptomycin b44 6110.0CTNNB1, NR1H2, NR3C1
34progestin449.0NR3C1, ESR1, CYP11A1, STAR, NR1H2
35actinomycin d448.9NR3C1, NR5A1, STAR, ESR1, CYP11A1
36cholesterol44 28 24 1111.9NR0B2, NR5A1, CYP11A1, ESRRB, STAR, NR0B1
374-hydroxytamoxifen448.9NR3C1, ESRRB, ESR1, NR1H2, CTNNB1
38dihydrotestosterone44 28 24 1111.9CYP11A1, ESR1, CTNNB1, NR1H2, NR3C1
39vitamin d448.8NR3C1, NR1H2, CTNNB1, NR5A1, ESR1
40mg 13244 619.8CTNNB1, NR1H2, NR3C1, STAR, ESR1
41retinoid448.6CTNNB1, NR1H2, ESRRB, NR3C1, ESR1, NR5A1
42cycloheximide448.6NR3C1, NR5A1, CTNNB1, STAR, ESR1, CYP11A1
43dexamethasone44 50 28 1111.5CTNNB1, NR1H2, NR3C1, NR0B1, STAR, ESRRB
44estradiol44 24 1110.4NR5A1, STAR, ESR1, ESRRB, CYP11A1, NR1H2
45retinoic acid44 249.3CYP11A1, ESRRB, ESR1, NR5A1, NR3C1, CTNNB1
46gnrh448.3NR1H2, ESRRB, CTNNB1, ESR1, STAR, NR5A1
47testosterone44 61 24 1110.8WNT4, ESR1, NR5A1, CYP11A1, NR0B1, NR3C1
48steroid447.6ESRRB, ESR1, STAR, NR1H2, NR0B2, NR3C1
49estrogen447.6NR0B2, CYP11A1, ESRRB, ESR1, NR1H2, STAR
50progesterone44 28 61 24 1111.5ESR1, ESRRB, WNT4, NR5A1, NR0B1, NR3C1

GO Terms for genes affiliated with Dosage-Sensitive Sex Reversal

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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:0309149.5KAT2A, TRRAP
4nucleusGO:0056347.1ESRRB, ESR1, NR5A1, NR0B1, NR3C1, NR0B2
5nucleoplasmGO:0056546.9TRRAP, KAT2A, ESRRB, ESR1, NR5A1, NR0B1

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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Sources for Dosage-Sensitive Sex Reversal

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3CDC
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14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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51PubMed
52QIAGEN
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62UMLS
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