MCID: 3BT001
MIFTS: 41

3-Beta-Hydroxysteroid Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 congenital adrenal hyperplasia and hyperandrogenism. 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 and ovary.

Wikipedia:66 3?-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3?-HSD CAH) is an uncommon... more...

Description from OMIM:48 201810

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

3-beta-hydroxysteroid dehydrogenase deficiency 44 23 22
3b-hydroxysteroid dehydrogenase deficiency 44 22
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 50
cah due to 3-beta-hydroxysteroid dehydrogenase deficiency 50
3-beta-hydroxysteroid dehydrogenase, type ii, deficiency 48
type ii 3-beta-hydroxysteroid dehydrogenase deficiency 44
type ii 3β-hydroxysteroid dehydrogenase deficiency 22
3β-hsd deficiency congenital adrenal hyperplasia 22
3β-hydroxysteroid dehydrogenase deficiency 22
3 beta-ol dehydrogenase deficiency 22
adrenal hyperplasia ii 44
adrenal hyperplasia 2 44
3-beta-hsd deficiency 44
3 beta-hsd deficiency 22
3β-hsd deficiency 22
hsd3b deficiency 44


External Ids:

SNOMED-CT via Orphanet60 54470008
OMIM48 201810
ICD10 via Orphanet27 E25.0

Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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18GeneCards, 19GeneDecks
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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 hyperplasia30.6HSD3B2, HSD3BP4
2hyperandrogenism30.6HSD3BP4, HSD3B2
3polycystic ovary syndrome30.5HSD3B2, HSD3BP4
43-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia10.6
5pseudohermaphroditism10.3
6insulin resistance10.2
7prostate cancer10.0HSD3B2, HSD3BP4

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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48OMIM
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Clinical features from OMIM:

201810

Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

Search CenterWatch for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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23GTR
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Genetic tests related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 3 Beta-Hydroxysteroid Dehydrogenase Deficiency23

Anatomical Context for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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34MalaCards
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MalaCards organs/tissues related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

34
Adrenal gland, Ovary

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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

65 (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:

1 (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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2BioGPS, 16Gene 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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Compounds for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1trilostane46 1210.4HSD3B2, HSD3BP4
217-hydroxypregnenolone469.4HSD3B2, HSD3BP4
317-hydroxyprogesterone46 2510.4HSD3B2, HSD3BP4
411beta-hydroxysteroid469.4HSD3B2, HSD3BP4
53beta-hydroxysteroid469.4HSD3BP4, HSD3B2
617beta-hydroxysteroid469.4HSD3B2, HSD3BP4
7dehydroepiandrosterone sulfate469.4HSD3B2, HSD3BP4
8dhea469.4HSD3B2, HSD3BP4
9androstenedione46 2510.3HSD3BP4, HSD3B2
10acth469.3HSD3B2, HSD3BP4
11nadh46 25 1211.3HSD3B2, HSD3BP4
12forskolin46 52 1211.2HSD3B2, HSD3BP4
13progesterone46 30 62 25 1213.2HSD3BP4, HSD3B2
14testosterone46 62 25 1212.1HSD3B2, HSD3BP4
15estrogen469.1HSD3B2, HSD3BP4
16cholesterol46 30 25 1212.0HSD3B2, HSD3BP4
17steroid468.8HSD3B2, 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
  • Antibodies

Sources for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet