MCID: 3BT001
MIFTS: 42

3-Beta-Hydroxysteroid Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Genetics Home Reference:21 3-beta (╬▓)-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 3╬▓-HSD deficiency lack many of the hormones that are made in these glands. 3╬▓-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 based summary: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, also known as 3b-hydroxysteroid dehydrogenase deficiency, is related to congenital adrenal hyperplasia and hyperandrogenism, and has symptoms including An important gene associated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency is HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). The compounds trilostane and 17-hydroxypregnenolone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, ovary and kidney.

Wikipedia:65 3?-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3?-HSD CAH) is an uncommon... more...

Description from OMIM:46 201810

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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3-Beta-Hydroxysteroid Dehydrogenase Deficiency, Aliases & Descriptions:

Name: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 42 22 21
3b-Hydroxysteroid Dehydrogenase Deficiency 42 21 62
3 Beta-Ol Dehydrogenase Deficiency 21 62
Adrenal Hyperplasia Ii 42 62
3 Beta-Hsd Deficiency 21 62
Adrenal Hyperplasia 2 42 62
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48
3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 46
 
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 42
Type Ii 3╬▓-Hydroxysteroid Dehydrogenase Deficiency 21
3╬▓-Hsd Deficiency Congenital Adrenal Hyperplasia 21
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 62
3╬▓-Hydroxysteroid Dehydrogenase Deficiency 21
3-Beta-Hsd Deficiency 42
3╬▓-Hsd Deficiency 21
Hsd3b Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 201810
ICD10 via Orphanet26 E25.0

Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Diseases related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia30.5HSD3BP4, HSD3B2
2hyperandrogenism30.4HSD3BP4, HSD3B2
3polycystic ovary syndrome30.3HSD3BP4, HSD3B2
43-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia10.6
5pseudohermaphroditism10.3
6acth-independent macronodular adrenal hyperplasia 210.3
7insulin resistance10.2
8prostate cancer9.9HSD3BP4, HSD3B2

Graphical network of diseases related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:



Diseases related to 3-beta-hydroxysteroid dehydrogenase deficiency

Symptoms for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Clinical features from OMIM:

201810

HPO human phenotypes related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

id Description Frequency HPO Source Accession
1 male pseudohermaphroditism HP:0000037
2 hypospadias HP:0000047
3 adrenal hyperplasia HP:0008221

Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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Drug clinical trials:

Search ClinicalTrials for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

32
Adrenal gland, Ovary, Kidney, 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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Articles related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency. (7590644)
1995
2
Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]. (7984541)
1994
3
Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]. (1295433)
1992
4
Polycystic ovary syndrome as expression of 3-beta-hydroxysteroid dehydrogenase deficiency]. (1668983)
1991
5
Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency. (3160950)
1985
6
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency. (6968003)
1980
7
CONCURRENT 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY IN ADRENAL AND SCLEROCYSTIC OVARY. (14260992)
1965
8
Adrenogenital syndrome. Association with 3-beta-hydroxysteroid dehydrogenase deficiency. (5846696)
1965

Variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

64 (show all 27)
id Symbol AA change Variation ID SNP ID
1HSD3B2p.Glu142LysVAR_000006
2HSD3B2p.Leu205ProVAR_000007
3HSD3B2p.Ala245ProVAR_000008
4HSD3B2p.Tyr253AsnVAR_000009
5HSD3B2p.Tyr254AspVAR_000010
6HSD3B2p.Thr259ArgVAR_000011
7HSD3B2p.Ala10GluVAR_010517rs28934880
8HSD3B2p.Ala10ValVAR_010518
9HSD3B2p.Gly15AspVAR_010519
10HSD3B2p.Ala82ThrVAR_010520
11HSD3B2p.Asn100SerVAR_010521
12HSD3B2p.Leu108TrpVAR_010522
13HSD3B2p.Gly129ArgVAR_010523
14HSD3B2p.Pro155LeuVAR_010524
15HSD3B2p.Ala167ValVAR_010525rs35486059
16HSD3B2p.Leu173ArgVAR_010526
17HSD3B2p.Pro186LeuVAR_010527
18HSD3B2p.Ser213GlyVAR_010528
19HSD3B2p.Lys216GluVAR_010529
20HSD3B2p.Pro222HisVAR_010530
21HSD3B2p.Pro222GlnVAR_010531
22HSD3B2p.Leu236SerVAR_010533rs35887327
23HSD3B2p.Thr259MetVAR_010534
24HSD3B2p.Gly294ValVAR_010535
25HSD3B2p.Pro222ThrVAR_015411
26HSD3B2p.Pro341LeuVAR_065665
27HSD3B2p.Ala82ProVAR_070028

Clinvar genetic disease variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1HSD3B2NM_001166120.1(HSD3B2): c.512G> A (p.Trp171Ter)single nucleotide variantPathogenicrs80358216GRCh37Chr 1, 119964636: 119964636
2HSD3B2HSD3B2, 1-BP INSinsertionPathogenic
3HSD3B2NM_001166120.1(HSD3B2): c.742_743delGTinsAA (p.Val248Asn)indelPathogenicrs121964896GRCh37Chr 1, 119964866: 119964867
4HSD3B2NM_001166120.1(HSD3B2): c.745C> T (p.Arg249Ter)single nucleotide variantPathogenicrs80358217GRCh37Chr 1, 119964869: 119964869
5HSD3B2NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu)single nucleotide variantPathogenicrs28934880GRCh37Chr 1, 119958071: 119958071
6HSD3B2NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys)single nucleotide variantPathogenicrs80358218GRCh37Chr 1, 119965243: 119965243
7HSD3B2NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs80358219GRCh37Chr 1, 119964548: 119964548
8HSD3B2NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr)single nucleotide variantPathogenicrs80358220GRCh37Chr 1, 119964788: 119964788
9HSD3B2NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met)single nucleotide variantPathogenicrs80358221GRCh37Chr 1, 119964900: 119964900
10HSD3B2HSD3B2, 1-BP DEL, 867GdeletionPathogenic
11HSD3B2NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu)single nucleotide variantPathogenicrs121964897GRCh37Chr 1, 119965146: 119965146

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

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

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

(show all 17)
idCompoundScoreTop Affiliating Genes
1trilostane44 1110.4HSD3B2, HSD3BP4
217-hydroxypregnenolone449.4HSD3B2, HSD3BP4
317-hydroxyprogesterone44 2410.4HSD3B2, HSD3BP4
411beta-hydroxysteroid449.4HSD3B2, HSD3BP4
53beta-hydroxysteroid449.4HSD3BP4, HSD3B2
617beta-hydroxysteroid449.4HSD3B2, HSD3BP4
7dehydroepiandrosterone sulfate449.4HSD3B2, HSD3BP4
8dhea449.4HSD3B2, HSD3BP4
9androstenedione44 2410.3HSD3BP4, HSD3B2
10acth449.3HSD3B2, HSD3BP4
11nadh44 24 1111.3HSD3B2, HSD3BP4
12forskolin44 50 1111.2HSD3B2, HSD3BP4
13progesterone44 28 61 24 1113.2HSD3BP4, HSD3B2
14testosterone44 61 24 1112.1HSD3B2, HSD3BP4
15estrogen449.1HSD3B2, HSD3BP4
16cholesterol44 28 24 1112.0HSD3B2, HSD3BP4
17steroid448.8HSD3B2, HSD3BP4

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

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet