MCID: 3BT003
MIFTS: 33

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 51 12
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 47 25 26
Adrenal Hyperplasia 2 47 69 67
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 47 53
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 47 53
3b-Hydroxysteroid Dehydrogenase Deficiency 47 25
3-Beta-Hsd Deficiency 47 69
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 69
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 69
3-@beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency of 51
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 69
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 47
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 25
 
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 25
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 67
3β-Hydroxysteroid Dehydrogenase Deficiency 25
3 Beta-Ol Dehydrogenase Deficiency 25
Hydroxysteroid Dehydrogenase 3 12
Adrenal Hyperplasia Type Ii 69
Adrenal Hyperplasia Ii 47
3 Beta-Hsd Deficiency 25
3β-Hsd Deficiency 25
Hsd3b Deficiency 47
Ah-Ii 69
Ah2 69

Characteristics:

Orphanet epidemiological data:

53
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:

OMIM51 201810
Orphanet53 ORPHA90791
ICD10 via Orphanet30 E25.0
MedGen36 C0342471
MeSH38 D000312

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

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NIH Rare Diseases:47 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 acth-independent macronodular adrenal hyperplasia 2 and 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia, and has symptoms including Array, Array and Array. 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:69 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:25 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.

Description from OMIM:51 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
1acth-independent macronodular adrenal hyperplasia 212.3
23-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia12.3
3pseudohermaphroditism, male, with gynecomastia12.0
4acth-independent macronodular adrenal hyperplasia11.0
5polycystic ovary syndrome10.1
6hyperandrogenism10.1
7pseudohermaphroditism10.0

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

Human phenotypes related to 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency:

 53 63 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism53 Very frequent (99-80%)
2 ambiguous genitalia, male53 Very frequent (99-80%)
3 male pseudohermaphroditism63 53 Very frequent (99-80%) HP:0000037
4 hypospadias63 53 Very frequent (99-80%) HP:0000047
5 bifid scrotum53 Frequent (79-30%)
6 perineal hypospadias53 Very frequent (99-80%)
7 clitoromegaly53 Frequent (79-30%)
8 ambiguous genitalia, female53 Frequent (79-30%)
9 ambiguous genitalia53 Frequent (79-30%)
10 renal salt wasting53 Very frequent (99-80%)
11 abnormality of the menstrual cycle53 Very frequent (99-80%)
12 abnormality of the vagina53 Occasional (29-5%)
13 decreased fertility53 Very frequent (99-80%)
14 polycystic ovaries53 Frequent (79-30%)
15 gynecomastia53 Frequent (79-30%)
16 delayed puberty53 Very frequent (99-80%)
17 glucose intolerance53 Very frequent (99-80%)
18 adrenogenital syndrome53 Very frequent (99-80%)
19 decreased fertility in females53 Frequent (79-30%)
20 delayed skeletal maturation53 Very frequent (99-80%)
21 increased circulating renin level53 Very frequent (99-80%)
22 insulin resistance53 Frequent (79-30%)
23 primary adrenal insufficiency53 Very frequent (99-80%)
24 osteoporosis53 Very frequent (99-80%)
25 hirsutism53 Occasional (29-5%)
26 acne53 Occasional (29-5%)
27 acidosis53 Very frequent (99-80%)
28 dehydration53 Very frequent (99-80%)
29 abnormal glucose tolerance53 Very frequent (99-80%)
30 neonatal hypoglycemia53 Very frequent (99-80%)
31 vomiting53 Very frequent (99-80%)
32 hyperkalemia53 Very frequent (99-80%)
33 hypotension53 Very frequent (99-80%)
34 hyponatremia53 Very frequent (99-80%)
35 decreased circulating aldosterone level53 Very frequent (99-80%)
36 increased circulating acth level53 Very frequent (99-80%)
37 hypernatriuria53 Very frequent (99-80%)
38 reduced bone mineral density53 Very frequent (99-80%)
39 abnormal oral glucose tolerance53 Very frequent (99-80%)
40 accelerated skeletal maturation53 Very frequent (99-80%)
41 generalized hyperpigmentation53 Very frequent (99-80%)
42 decreased circulating cortisol level53 Very frequent (99-80%)
43 absence of secondary sex characteristics53 Frequent (79-30%)
44 androgen insufficiency53 Very frequent (99-80%)
45 elevated follicle stimulating hormone53 Very frequent (99-80%)
46 congenital adrenal hyperplasia53 Very frequent (99-80%)
47 enlarged polycystic ovaries53 Frequent (79-30%)
48 female external genitalia in individual with 46,xy karyotype53 Very frequent (99-80%)
49 decreased testicular size53 Frequent (79-30%)
50 hypovolemia53 Very frequent (99-80%)
51 ectopic adrenal gland53 Occasional (29-5%)
52 adrenocorticotropic hormone excess53 Very frequent (99-80%)
53 feeding difficulties53 Very frequent (99-80%)
54 elevated luteinizing hormone53 Very frequent (99-80%)
55 decreased fertility in males53 Frequent (79-30%)
56 abnormal sex determination53 Very frequent (99-80%)
57 premature adrenarche53 Very frequent (99-80%)
58 hyperpigmented genitalia53 Frequent (79-30%)
59 abnormality of the labia majora53 Occasional (29-5%)
60 urogenital sinus anomaly53 Very frequent (99-80%)
61 enlarged ovaries53 Frequent (79-30%)
62 adrenal hyperplasia63 HP:0008221

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

id Genetic test Affiliating Genes
1 3 Beta-Hydroxysteroid Dehydrogenase Deficiency26

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:

35
Adrenal gland, Ovary, Testes, Kidney, Bone

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:

69 (show all 27)
id Symbol AA change Variation ID SNP ID
1HSD3B2p.Glu142LysVAR_000006rs80358219
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_010520rs757033996
11HSD3B2p.Asn100SerVAR_010521
12HSD3B2p.Leu108TrpVAR_010522
13HSD3B2p.Gly129ArgVAR_010523rs587628683
14HSD3B2p.Pro155LeuVAR_010524rs779418168
15HSD3B2p.Ala167ValVAR_010525rs35486059
16HSD3B2p.Leu173ArgVAR_010526rs762479018
17HSD3B2p.Pro186LeuVAR_010527
18HSD3B2p.Ser213GlyVAR_010528rs759422374
19HSD3B2p.Lys216GluVAR_010529
20HSD3B2p.Pro222HisVAR_010530
21HSD3B2p.Pro222GlnVAR_010531rs765547422
22HSD3B2p.Leu236SerVAR_010533rs35887327
23HSD3B2p.Thr259MetVAR_010534rs80358221
24HSD3B2p.Gly294ValVAR_010535
25HSD3B2p.Pro222ThrVAR_015411rs80358220
26HSD3B2p.Pro341LeuVAR_065665rs121964897
27HSD3B2p.Ala82ProVAR_070028

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1HSD3B2NM_001166120.1(HSD3B2): c.512G> A (p.Trp171Ter)SNVPathogenicrs80358216GRCh37Chr 1, 119964636: 119964636
2HSD3B2HSD3B2, 1-BP INSinsertionPathogenicChr na, -1: -1
3HSD3B2NM_001166120.1(HSD3B2): c.742_743delGTinsAA (p.Val248Asn)indelPathogenicrs121964896GRCh37Chr 1, 119964866: 119964867
4HSD3B2NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu)SNVPathogenicrs28934880GRCh37Chr 1, 119958071: 119958071
5HSD3B2NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys)SNVPathogenicrs80358218GRCh37Chr 1, 119965243: 119965243
6HSD3B2NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys)SNVPathogenicrs80358219GRCh37Chr 1, 119964548: 119964548
7HSD3B2NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr)SNVPathogenicrs80358220GRCh37Chr 1, 119964788: 119964788
8HSD3B2NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met)SNVPathogenicrs80358221GRCh37Chr 1, 119964900: 119964900
9HSD3B2HSD3B2, 1-BP DEL, 867GdeletionPathogenicChr na, -1: -1
10HSD3B2NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu)SNVPathogenicrs121964897GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet