MCID: 3BT003
MIFTS: 29

3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency, Aliases & Descriptions:

Name: 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 45 10
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 41 21 22
3b-Hydroxysteroid Dehydrogenase Deficiency 41 21
Adrenal Hyperplasia 2 41 60
3-@beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency of 45
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 41
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 21
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 21
 
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 60
3β-Hydroxysteroid Dehydrogenase Deficiency 21
3 Beta-Ol Dehydrogenase Deficiency 21
Adrenal Hyperplasia Ii 41
3 Beta-Hsd Deficiency 21
3-Beta-Hsd Deficiency 41
3β-Hsd Deficiency 21
Hsd3b Deficiency 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


External Ids:

OMIM45 201810

Summaries for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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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 based summary: 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency, also known as 3-beta-hydroxysteroid dehydrogenase deficiency, is related to congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency and 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia, and has symptoms including male pseudohermaphroditism, hypospadias and adrenal hyperplasia. An important gene associated with 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency is HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). Affiliated tissues include adrenal gland, kidney and ovary.

Description from OMIM:45 201810

Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Diseases related to 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency10.8
23-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia10.7
3polycystic ovary syndrome10.4
4congenital adrenal hyperplasia10.4
5hyperandrogenism10.4
6acth-independent macronodular adrenal hyperplasia 210.4
7pseudohermaphroditism10.3

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



Diseases related to 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency

Symptoms for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Clinical features from OMIM:

201810

HPO human phenotypes related to 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, 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, Type Ii, Deficiency

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Drug clinical trials:

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Search NIH Clinical Center for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Genetic tests related to 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency:

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

Anatomical Context for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

31
Adrenal gland, Kidney, Ovary, Testes

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

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Publications for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Variations for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

62 (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, Type Ii, Deficiency:

6 (show all 11)
id Gene Variation 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, Type Ii, Deficiency

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

Pathways for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Compounds for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

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Products for genes affiliated with 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Sources for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet