MCID: 3BT003
MIFTS: 31

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

Categories: Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

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

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

Name: 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 49 11
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 45 23 24
Adrenal Hyperplasia 2 45 67 65
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 45 51
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 45 51
3b-Hydroxysteroid Dehydrogenase Deficiency 45 23
3-Beta-Hsd Deficiency 45 67
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 67
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 67
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 45
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 23
 
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 23
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 65
3β-Hydroxysteroid Dehydrogenase Deficiency 23
3 Beta-Ol Dehydrogenase Deficiency 23
Adrenal Hyperplasia Type Ii 67
Adrenal Hyperplasia Ii 45
3 Beta-Hsd Deficiency 23
3β-Hsd Deficiency 23
Hsd3b Deficiency 45
Ah-Ii 67
Ah2 67

Characteristics:

Orphanet epidemiological data:

51
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM49 201810
Orphanet51 90791
ICD10 via Orphanet28 E25.0
MedGen34 C0342471
MeSH36 D000312
UMLS65 C0342471, C2931782

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

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NIH Rare Diseases:45 3-beta-hydroxysteroid dehydrogenase (3bhsd) deficiency is a form of congenital adrenal hyperplasia, a group of conditions that interfere with the body's ability to make hormones. people with this condition lack many of the hormones made in the gonads (testes or ovaries) and the adrenal glands. there are three types of 3bhsd deficiency - the salt-wasting form, non-salt-wasting form, and non-classic form. signs and symptoms depend on the type of 3bhsd deficiency; the age at diagnosis; and the sex of the affected person. the salt-wasting form is the most severe type and can even be life-threatening. people with this form are generally diagnosed at birth due to symptoms related to abnormal salt reabsorption (i.e. dehydration, poor feeding, vomiting). males with any form of the condition often have abnormalities of the external genitalia and are frequently infertile. females with the condition may have slight genital abnormalities at birth, but often go on to experience irregular menstruation, hirsutism, and infertility as they get older. 3bhsd deficiency is caused by changes (mutations) in the hsd3b2 gene and is inherited in an autosomal recessive manner. treatment varies but may include medications and/or surgery. last updated: 11/17/2015

MalaCards based summary: 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency, also known as 3-beta-hydroxysteroid dehydrogenase deficiency, is related to 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia and acth-independent macronodular adrenal hyperplasia 2, and has symptoms including adrenal hyperplasia, hypospadias and male pseudohermaphroditism. 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, ovary and testes.

UniProtKB/Swiss-Prot:67 Adrenal hyperplasia 2: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.

Genetics Home Reference:23 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.

Wikipedia:68 3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an... more...

Description from OMIM:49 201810

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

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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 adrenal hyperplasia HP:0008221
2 hypospadias HP:0000047
3 male pseudohermaphroditism HP:0000037

Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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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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:

33
Adrenal gland, Ovary, Testes, Kidney

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:

67 (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:

5 (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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet