Dosage-Sensitive Sex Reversal (DSS) malady

Summaries for Dosage-Sensitive Sex Reversal

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MalaCards: Dosage-Sensitive Sex Reversal, also known as DSS, is related to hyperandrogenism and leydig cell tumor. 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 Pregnenolone biosynthesis and PKA activation in glucagon signalling. The compounds estrogen and cycloheximide have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and embryogenesis.

Aliases & Classifications for Dosage-Sensitive Sex Reversal

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

dosage-sensitive sex reversal 42 60
dss 42

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 top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1hyperandrogenism30.3CYP11A1, NR3C1
2leydig cell tumor30.3STAR, NR0B1, CYP11A1, NR5A1
3dengue shock syndrome10.4
4nr0b1-related 46,xy dsd and 46,xy cgd10.3
5dengue hemorrhagic fever10.3
6charcot-marie-tooth disease type 4e10.2
7ulcerative colitis10.1
8lipoid adrenal hyperplasia10.0STAR
10hypogonadism10.0NR5A1, NR0B1
11gonadal dysgenesis10.0NR5A1, NR0B1
13congenital adrenal insufficiency10.0CYP11A1, STAR
14kallmann syndrome10.0NR5A1, ESRRB, NR0B1
15cholestasis10.0NR0B2, NR1H2
1646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0NR5A1, WNT4, NR0B1
17prolactinoma10.0NR5A1, ESR1
18ovarian disease10.0ESR1, STAR
19congenital adrenal hyperplasia10.0STAR, CYP11A1, NR5A1
21pituitary tumors10.0ESR1, NR1H2
22wilms tumor10.0CTNNB1, NR0B1, NR5A1
23x-linked adrenal hypoplasia congenita10.0ESRRB, NR0B1, NR5A1, STAR
24premature ovarian failure10.0CYP11A1, STAR
25choriocarcinoma10.0STAR, NR5A1, CYP11A1
26embryonal cancer10.0NR1H2, ESRRB, NR5A1
27adrenocortical carcinoma10.0STAR, NR5A1, NR0B1, CYP11A1
28pituitary adenoma10.0NR0B1, NR5A1, NR3C1
29leukemia10.0NR3C1, NR1H2
30osteoarthritis10.0NR1H2, NR3C1
31melanoma10.0NR1H2, CTNNB1
32adenoma10.0NR0B1, CYP11A1, NR5A1, CTNNB1
33polycystic ovary syndrome10.0NR5A1, NR1H2, CYP11A1, STAR
34cushing's syndrome10.0NR3C1, NR0B1, CYP11A1
35endometriosis10.0ESR1, CYP11A1, NR5A1, STAR
36abrikosov's tumor10.0CYP11A1, STAR, NR5A1, ESR1
37retinoblastoma10.0TRRAP, NR1H2, ESR1
38osteosarcoma10.0NR3C1, ESR1
39insulin resistance10.0NR3C1, NR0B2, NR1H2
40cervical cancer10.0NR3C1, NR1H2
41endometrial carcinoma10.0CTNNB1, ESRRB, ESR1
42tubular adenocarcinoma10.0CTNNB1, ESR1
43hepatocellular carcinoma10.0NR1H2, NR3C1, CTNNB1
44addison's disease10.0NR0B1, CYP11A1, NR1H2, NR5A1, ESRRB, STAR
45ovarian cancer10.0CTNNB1, STAR, NR0B1, ESR1
46osteoporosis10.0ESR1, NR3C1, NR1H2
47infertility10.0STAR, NR1H2, NR5A1, ESR1, CYP11A1
48adrenal adenoma10.0NR1H2, CYP11A1, NR5A1, STAR, CTNNB1, NR0B1
49breast cancer10.0NR1H2, CTNNB1, NR3C1, ESR1
50discrete subaortic stenosis10.0

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

Diseases related to dosage-sensitive sex reversal

Clinical Features for Dosage-Sensitive Sex Reversal

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Drugs & Therapeutics for Dosage-Sensitive Sex Reversal

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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MGI Mouse Phenotypes related to Dosage-Sensitive Sex Reversal:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.3CYP11A1, NR3C1, NR1H2, NR0B2
2MP:00053807.9KAT2A, CTNNB1, NR5A1, TRRAP, WNT4, ESR1
3MP:00028737.7KAT2A, CTNNB1, NR0B2, NR5A1, NR1H2, NR3C1
4MP:00036317.4CTNNB1, NR5A1, NR1H2, NR3C1, CYP11A1, WNT4
5MP:00053767.3CTNNB1, STAR, NR0B2, NR5A1, NR1H2, NR3C1
6MP:00053897.3CTNNB1, STAR, NR0B2, NR5A1, NR1H2, NR3C1
7MP:00053867.1KAT2A, CTNNB1, NR5A1, NR1H2, NR3C1, CYP11A1
8MP:00053787.0NR0B2, STAR, CTNNB1, KAT2A, NR5A1, NR3C1
9MP:00107686.6NR5A1, STAR, CTNNB1, KAT2A, NR1H2, NR3C1

Publications for Dosage-Sensitive Sex Reversal

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Genetic Variations for Dosage-Sensitive Sex Reversal

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Expression for genes affiliated with Dosage-Sensitive Sex Reversal

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1BioGPS, 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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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Dosage-Sensitive Sex Reversal

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Dosage-Sensitive Sex Reversal according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
2cycloheximide4410.3STAR, NR5A1
3di-n-butyl phthalate4410.2CYP11A1, STAR
4monobutyl phthalate4410.2CYP11A1, STAR
5ecdysone4410.0NR5A1, NR1H2, ESRRB
6phtpp59 2810.9ESR1, ESRRB
727-hydroxycholesterol44 2810.9NR1H2, STAR, CYP11A1
8dpn599.9ESRRB, ESR1
9ppt59 2810.9ESR1, ESRRB
10ici 182,780599.9ESR1, ESRRB
11(z)-4-hydroxytamoxifen599.8ESR1, ESRRB
123beta-hydroxysteroid449.8STAR, ESRRB, NR5A1, CYP11A1
1322r-hydroxycholesterol44 2810.7STAR, CYP11A1, NR1H2, NR5A1
14ouabain44 1110.7CTNNB1, STAR, CYP11A1
15androstane449.7NR3C1, NR0B2, NR1H2
16chenodeoxycholic acid44 28 11 2412.6NR0B2, ESRRB, NR1H2
17cyproteroneacetate449.6CTNNB1, NR3C1, NR1H2
18aminoglutethimide44 1110.6NR3C1, CYP11A1, ESR1
19dhea449.5NR3C1, NR5A1, CYP11A1, STAR
20diethylstilbestrol44 28 1111.5STAR, NR5A1, ESR1, ESRRB
21rifampicin44 28 5911.5ESRRB, NR1H2, NR0B2, NR3C1
2217beta-hydroxysteroid449.5NR5A1, ESR1, STAR, CYP11A1
23bicalutamide44 59 1111.5NR1H2, ESR1, CTNNB1
24ketoconazole44 28 11 2412.5NR1H2, NR3C1, CYP11A1
25sterol449.4NR1H2, ESRRB, CYP11A1, NR5A1, STAR
26phenobarbital44 28 1111.4CTNNB1, NR1H2, NR3C1, ESRRB
27steroidal449.3NR3C1, NR1H2, ESR1, ESRRB
28leptomycin b44 5910.3NR3C1, NR1H2, CTNNB1
29corticosterone44 59 2411.3NR3C1, STAR, NR5A1, NR1H2, CYP11A1
305-aza-2deoxycytidine449.2NR5A1, NR1H2, ESR1, CTNNB1
31fluoxymesterone44 1110.2NR3C1, ESR1
32acth449.1NR5A1, NR3C1, ESRRB, STAR, CYP11A1, NR0B1
33geldanamycin44 49 59 1112.1NR1H2, NR3C1, ESR1, CTNNB1
34mifepristone44 59 28 1112.1CTNNB1, NR3C1, ESR1, NR1H2
35progestins449.1NR1H2, ESR1, NR3C1
36progestin449.0NR1H2, NR3C1, ESR1, CYP11A1, STAR
37actinomycin d448.9NR5A1, CYP11A1, ESR1, NR3C1, STAR
38cholesterol44 28 11 2411.9NR1H2, STAR, NR0B2, ESRRB, CYP11A1, NR0B1
394-hydroxytamoxifen448.9NR1H2, CTNNB1, ESR1, ESRRB, NR3C1
40dihydrotestosterone44 28 11 2411.9CYP11A1, NR3C1, ESR1, NR1H2, CTNNB1
41mg 13244 599.8STAR, CTNNB1, NR1H2, NR3C1, ESR1
42vitamin d448.8NR3C1, NR5A1, ESR1, CTNNB1, NR1H2
43dexamethasone44 49 28 1111.8CYP11A1, NR0B1, STAR, NR3C1, NR1H2, CTNNB1
44steroid448.7NR5A1, ESRRB, ESR1, STAR, NR0B1, NR0B2
45retinoid448.7ESRRB, NR3C1, NR1H2, CTNNB1, NR5A1, ESR1
46estradiol44 11 2410.5NR1H2, STAR, NR5A1, NR3C1, CYP11A1, ESR1
47gnrh448.3CTNNB1, STAR, NR5A1, NR1H2, NR0B1, CYP11A1
48retinoic acid44 249.3ESRRB, CYP11A1, NR3C1, NR1H2, CTNNB1, ESR1
49testosterone44 59 11 2410.8NR5A1, CTNNB1, STAR, NR1H2, NR3C1, NR0B1
50progesterone44 59 28 11 2411.6NR5A1, CTNNB1, STAR, NR1H2, NR3C1, NR0B1

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:0300619.8CYP11A1, STAR
2transcription factor TFTC complexGO:0332769.6TRRAP, KAT2A
3STAGA complexGO:0309149.3TRRAP, KAT2A
4nucleoplasmGO:0056547.8ESRRB, CTNNB1, NR0B2, NR5A1, NR1H2, NR3C1

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1fractalkine metabolic processGO:05075610.3CYP11A1, STAR
2response to fungicideGO:06099210.2STAR, CYP11A1
3dibenzo-p-dioxin metabolic processGO:01889410.2STAR, CYP11A1
4biphenyl metabolic processGO:01887910.2STAR, CYP11A1
5regulation of steroid biosynthetic processGO:05081010.2STAR, NR5A1
6testosterone biosynthetic processGO:06137010.2STAR, CYP11A1
7phthalate metabolic processGO:01896310.2STAR, CYP11A1
8phenol-containing compound metabolic processGO:01895810.2STAR, CYP11A1
9progesterone biosynthetic processGO:00670110.2STAR, CYP11A1
10C21-steroid hormone biosynthetic processGO:00670010.2STAR, CYP11A1
11renal vesicle formationGO:07203310.1WNT4, CTNNB1
12cellular response to follicle-stimulating hormone stimulusGO:07137210.1CYP11A1, STAR
13Leydig cell differentiationGO:03332710.1NR0B1, CYP11A1
14intracellular receptor signaling pathwayGO:03052210.1NR5A1, NR0B1, ESRRB
15cellular response to antibioticGO:07123610.1STAR, CYP11A1
16estrogen biosynthetic processGO:00670310.1STAR, CYP11A1
17glucocorticoid metabolic processGO:00821110.0STAR, NR3C1
18oocyte developmentGO:04859910.0WNT4, CTNNB1
19cellular response to cadmium ionGO:07127610.0CYP11A1, STAR
20cellular response to transforming growth factor beta stimulusGO:0715609.9STAR, CYP11A1, WNT4
21response to corticosterone stimulusGO:0514129.9STAR, CYP11A1
22steroid biosynthetic processGO:0066949.9NR0B1, STAR
23cholesterol metabolic processGO:0082039.9CYP11A1, NR0B2, STAR
24negative regulation of sequence-specific DNA binding transcription factor activityGO:0434339.8NR0B2, NR0B1, ESR1
25cellular response to fibroblast growth factor stimulusGO:0443449.8CYP11A1, STAR
26smooth muscle cell differentiationGO:0511459.8CTNNB1, WNT4
27histone deubiquitinationGO:0165789.7KAT2A, TRRAP
28adrenal gland developmentGO:0303259.6NR5A1, NR3C1, NR0B1, WNT4
29male gonad developmentGO:0085849.3STAR, NR5A1, NR0B1, WNT4, ESR1
30positive regulation of transcription from RNA polymerase II promoterGO:0459448.9CTNNB1, NR5A1, NR1H2, ESR1, ESRRB
31negative regulation of transcription, DNA-dependentGO:0458928.9CTNNB1, NR1H2, NR0B1, WNT4
32transcription initiation from RNA polymerase II promoterGO:0063678.6ESRRB, ESR1, NR0B1, NR3C1, NR1H2, NR5A1
33gene expressionGO:0104678.6NR0B2, NR5A1, NR1H2, NR3C1, NR0B1, ESR1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1retinoid X receptor bindingGO:0469659.9NR1H2, NR0B2
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.6NR5A1, NR1H2, NR0B1, ESRRB
3steroid bindingGO:0054969.3NR3C1, ESR1, ESRRB
4transcription factor bindingGO:0081349.0CTNNB1, NR0B1, ESR1, ESRRB
5sequence-specific DNA bindingGO:0435659.0ESRRB, NR0B1, NR3C1, NR1H2, NR5A1
6steroid hormone receptor activityGO:0037078.8ESRRB, ESR1, NR0B1, NR1H2, NR5A1, NR0B2
7transcription coactivator activityGO:0037138.8ESRRB, TRRAP, NR5A1, CTNNB1, KAT2A
8chromatin bindingGO:0036828.5ESR1, NR5A1, CTNNB1, KAT2A

Products for genes affiliated with Dosage-Sensitive Sex Reversal

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Sources for Dosage-Sensitive Sex Reversal

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet