MCID: 3BT001
MIFTS: 37

3-Beta-Hydroxysteroid Dehydrogenase Deficiency malady

Endocrine diseases category

Summaries for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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21Genetics Home Reference, 63Wikipedia, 32MalaCards
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Genetics Home Reference:21 3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3β-HSD deficiency lack many of the hormones that are made in these glands. 3β-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.

MalaCards: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, also known as 3b-hydroxysteroid dehydrogenase deficiency, is related to polycystic ovary syndrome and congenital adrenal hyperplasia. An important gene associated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency is HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), and among its related pathways are Androgen biosynthesis and Estrone metabolism. The compounds forskolin and trilostane have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, kidney and ovary.

Wikipedia:63 3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an... more...

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Aliases & Descriptions:

3-beta-hydroxysteroid dehydrogenase deficiency 42 22 21
3b-hydroxysteroid dehydrogenase deficiency 42 21
type ii 3β-hydroxysteroid dehydrogenase deficiency 21
3β-hsd deficiency congenital adrenal hyperplasia 21
3β-hydroxysteroid dehydrogenase deficiency 21
3 beta-ol dehydrogenase deficiency 21
adrenal hyperplasia ii 42
adrenal hyperplasia 2 42
3-beta-hsd deficiency 42
3 beta-hsd deficiency 21
3β-hsd deficiency 21
hsd3b deficiency 42


Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:



Diseases related to 3-beta-hydroxysteroid dehydrogenase deficiency

Clinical Features for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

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Drug clinical trials:

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Search NIH Clinical Center for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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22GTR
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Genetic tests related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 3 Beta-Hydroxysteroid Dehydrogenase Deficiency22

Anatomical Context for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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32MalaCards
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MalaCards organs/tissues related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

32
Adrenal gland, Kidney, Ovary, Testes

Animal Models for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency or affiliated genes

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Publications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Genetic Variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Expression for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency.

Pathways for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.1CYP17A1
2trilostane44 1110.8HSD3B2, HSD3BP4
3deoxycorticosterone28 2410.7CYP21A2, HSD3B2
4cortisol28 2410.7HSD3B2, CYP21A2
55,16-androstadien-3beta-ol449.5HSD3BP4, CYP17A1
6Dehydroepiandrosterone11 2410.4CYP17A1, HSD3B2
7pregnanediol449.4CYP17A1, CYP21A2
821-deoxycortisol44 2410.4CYP17A1, CYP21A2
9steroidal449.4CYP17A1, HSD3BP4
10pcb 126449.4CYP21A2, CYP17A1
11acth 1-24449.4CYP21A2, CYP17A1
12androstane449.4HSD3BP4, CYP17A1
1311 deoxycortisol449.3CYP21A2, CYP17A1
14progestin449.3HSD3BP4, CYP17A1
15estrone44 28 11 2412.2CYP17A1, HSD3BP4
16corticosterone44 59 2411.1CYP21A2, CYP17A1
17carbon449.0CYP17A1, CYP21A2
18gnrh449.0CYP21A2, CYP17A1
19heme28 11 2410.9CYP21A2, CYP17A1
20Pregnenolone11 249.9HSD3B2, CYP17A1, CYP21A2
21doca448.9CYP21A2, CYP17A1, HSD3BP4
22ketoconazole44 28 11 2411.9CYP21A2, CYP17A1, HSD3BP4
23nadh44 11 2410.9CYP17A1, HSD3BP4, HSD3B2
24dihydrotestosterone44 28 11 2411.9HSD3B2, CYP17A1, CYP21A2
25ribonucleic acid448.8HSD3BP4, CYP17A1, CYP21A2
26estradiol44 11 2410.8HSD3BP4, CYP17A1, CYP21A2
27nadph44 249.8CYP21A2, CYP17A1, HSD3B2
28valine448.7CYP21A2, CYP17A1
29oligonucleotide448.7CYP21A2, CYP17A1, HSD3B2
30dexamethasone44 49 28 1111.7CYP21A2, CYP17A1, HSD3BP4
3117-hydroxypregnenolone448.4CYP21A2, CYP17A1, HSD3BP4, HSD3B2
3217-hydroxyprogesterone44 249.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
3311beta-hydroxysteroid448.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
343beta-hydroxysteroid448.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
3517beta-hydroxysteroid448.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
36dehydroepiandrosterone sulfate448.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
37dhea448.4CYP21A2, CYP17A1, HSD3BP4, HSD3B2
38androstenedione44 249.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
39acth448.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
40progesterone44 59 28 11 2412.4CYP21A2, CYP17A1, HSD3BP4, HSD3B2
41testosterone44 59 11 2411.4CYP21A2, CYP17A1, HSD3BP4, HSD3B2
42cholesterol44 28 11 2411.4HSD3B2, HSD3BP4, CYP17A1, CYP21A2
43steroid448.3CYP21A2, CYP17A1, HSD3BP4, HSD3B2

GO Terms for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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16Gene Ontology
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Cellular components related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.5CYP21A2, CYP17A1, HSD3B2

Biological processes related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mineralocorticoid biosynthetic processGO:0067059.4CYP21A2, HSD3B2
2androgen biosynthetic processGO:0067029.1HSD3B2, CYP17A1
3xenobiotic metabolic processGO:0068059.0CYP21A2, CYP17A1
4sterol metabolic processGO:0161258.9CYP21A2, CYP17A1
5steroid biosynthetic processGO:0066948.8CYP17A1, HSD3B2
6glucocorticoid biosynthetic processGO:0067048.7CYP21A2, CYP17A1, HSD3B2
7steroid metabolic processGO:0082028.6CYP21A2, CYP17A1, HSD3B2

Molecular functions related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.0CYP21A2, CYP17A1
2heme bindingGO:0200378.9CYP21A2, CYP17A1
3iron ion bindingGO:0055068.7CYP21A2, CYP17A1

Products for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Sources for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet