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 52 12
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48 25 27
Adrenal Hyperplasia 2 48 70 68
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48 54
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48 54
3b-Hydroxysteroid Dehydrogenase Deficiency 48 25
3-Beta-Hsd Deficiency 48 70
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 70
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 70
3-@beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency of 52
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 70
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 48
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 25
 
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 25
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 68
3β-Hydroxysteroid Dehydrogenase Deficiency 25
3 Beta-Ol Dehydrogenase Deficiency 25
Hydroxysteroid Dehydrogenase 3 12
Adrenal Hyperplasia Type Ii 70
Adrenal Hyperplasia Ii 48
3 Beta-Hsd Deficiency 25
3β-Hsd Deficiency 25
Hsd3b Deficiency 48
Ah-Ii 70
Ah2 70

Characteristics:

Orphanet epidemiological data:

54
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:

OMIM52 201810
Orphanet54 ORPHA90791
ICD10 via Orphanet31 E25.0
MedGen37 C0342471
MeSH39 D000312

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

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NIH Rare Diseases:48 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.

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.

UniProtKB/Swiss-Prot:70 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.

Description from OMIM:52 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 & Phenotypes 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:

 54 64 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism54 Very frequent (99-80%)
2 ambiguous genitalia, male54 Very frequent (99-80%)
3 male pseudohermaphroditism64 54 Very frequent (99-80%) HP:0000037
4 hypospadias64 54 Very frequent (99-80%) HP:0000047
5 bifid scrotum54 Frequent (79-30%)
6 perineal hypospadias54 Very frequent (99-80%)
7 clitoromegaly54 Frequent (79-30%)
8 ambiguous genitalia, female54 Frequent (79-30%)
9 ambiguous genitalia54 Frequent (79-30%)
10 renal salt wasting54 Very frequent (99-80%)
11 abnormality of the menstrual cycle54 Very frequent (99-80%)
12 abnormality of the vagina54 Occasional (29-5%)
13 decreased fertility54 Very frequent (99-80%)
14 polycystic ovaries54 Frequent (79-30%)
15 gynecomastia54 Frequent (79-30%)
16 delayed puberty54 Very frequent (99-80%)
17 glucose intolerance54 Very frequent (99-80%)
18 adrenogenital syndrome54 Very frequent (99-80%)
19 decreased fertility in females54 Frequent (79-30%)
20 delayed skeletal maturation54 Very frequent (99-80%)
21 increased circulating renin level54 Very frequent (99-80%)
22 insulin resistance54 Frequent (79-30%)
23 primary adrenal insufficiency54 Very frequent (99-80%)
24 osteoporosis54 Very frequent (99-80%)
25 hirsutism54 Occasional (29-5%)
26 acne54 Occasional (29-5%)
27 acidosis54 Very frequent (99-80%)
28 dehydration54 Very frequent (99-80%)
29 abnormal glucose tolerance54 Very frequent (99-80%)
30 neonatal hypoglycemia54 Very frequent (99-80%)
31 vomiting54 Very frequent (99-80%)
32 hyperkalemia54 Very frequent (99-80%)
33 hypotension54 Very frequent (99-80%)
34 hyponatremia54 Very frequent (99-80%)
35 decreased circulating aldosterone level54 Very frequent (99-80%)
36 increased circulating acth level54 Very frequent (99-80%)
37 hypernatriuria54 Very frequent (99-80%)
38 reduced bone mineral density54 Very frequent (99-80%)
39 abnormal oral glucose tolerance54 Very frequent (99-80%)
40 accelerated skeletal maturation54 Very frequent (99-80%)
41 generalized hyperpigmentation54 Very frequent (99-80%)
42 decreased circulating cortisol level54 Very frequent (99-80%)
43 absence of secondary sex characteristics54 Frequent (79-30%)
44 androgen insufficiency54 Very frequent (99-80%)
45 elevated follicle stimulating hormone54 Very frequent (99-80%)
46 congenital adrenal hyperplasia54 Very frequent (99-80%)
47 enlarged polycystic ovaries54 Frequent (79-30%)
48 female external genitalia in individual with 46,xy karyotype54 Very frequent (99-80%)
49 decreased testicular size54 Frequent (79-30%)
50 hypovolemia54 Very frequent (99-80%)
51 ectopic adrenal gland54 Occasional (29-5%)
52 adrenocorticotropic hormone excess54 Very frequent (99-80%)
53 feeding difficulties54 Very frequent (99-80%)
54 elevated luteinizing hormone54 Very frequent (99-80%)
55 decreased fertility in males54 Frequent (79-30%)
56 abnormal sex determination54 Very frequent (99-80%)
57 premature adrenarche54 Very frequent (99-80%)
58 hyperpigmented genitalia54 Frequent (79-30%)
59 abnormality of the labia majora54 Occasional (29-5%)
60 urogenital sinus anomaly54 Very frequent (99-80%)
61 enlarged ovaries54 Frequent (79-30%)
62 adrenal hyperplasia64 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 Deficiency27

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:

36
Adrenal gland, Ovary, Testes, Kidney, Bone

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:

70 (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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet