MCID: 3BT001
MIFTS: 43

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

MalaCards integrated aliases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

Name: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 53 25
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 29 6 40 73
3b-Hydroxysteroid Dehydrogenase Deficiency 53 25
Adrenal Hyperplasia 2 53 73
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 53
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 53
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 53
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 25
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 25
3β-Hydroxysteroid Dehydrogenase Deficiency 25
3 Beta-Ol Dehydrogenase Deficiency 25
Hydroxysteroid Dehydrogenase 3 13
Adrenal Hyperplasia Ii 53
3-Beta-Hsd Deficiency 53
3 Beta-Hsd Deficiency 25
3β-Hsd Deficiency 25
Hsd3b Deficiency 53

Classifications:



Summaries for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, also known as 3 beta-hydroxysteroid dehydrogenase deficiency, is related to hyperandrogenism and lipoid congenital adrenal hyperplasia. An important gene associated with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency is HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and Metabolism of steroid hormones. The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, ovary and testes, and related phenotypes are cryptorchidism and ambiguous genitalia, male

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.

Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Graphical network of the top 20 diseases related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:



Diseases related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Symptoms & Phenotypes for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Human phenotypes related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

32 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 hallmark (90%) HP:0000028
2 ambiguous genitalia, male 32 hallmark (90%) HP:0000033
3 male pseudohermaphroditism 32 hallmark (90%) HP:0000037
4 bifid scrotum 32 frequent (33%) HP:0000048
5 perineal hypospadias 32 hallmark (90%) HP:0000051
6 ambiguous genitalia, female 32 frequent (33%) HP:0000061
7 renal salt wasting 32 hallmark (90%) HP:0000127
8 abnormality of the menstrual cycle 32 hallmark (90%) HP:0000140
9 gynecomastia 32 frequent (33%) HP:0000771
10 delayed puberty 32 hallmark (90%) HP:0000823
11 glucose intolerance 32 hallmark (90%) HP:0000833
12 adrenogenital syndrome 32 hallmark (90%) HP:0000840
13 increased circulating renin level 32 hallmark (90%) HP:0000848
14 insulin resistance 32 frequent (33%) HP:0000855
15 decreased fertility in females 32 frequent (33%) HP:0000868
16 osteoporosis 32 hallmark (90%) HP:0000939
17 hirsutism 32 occasional (7.5%) HP:0001007
18 acne 32 occasional (7.5%) HP:0001061
19 acidosis 32 hallmark (90%) HP:0001941
20 dehydration 32 hallmark (90%) HP:0001944
21 neonatal hypoglycemia 32 hallmark (90%) HP:0001998
22 vomiting 32 hallmark (90%) HP:0002013
23 hyperkalemia 32 hallmark (90%) HP:0002153
24 hypotension 32 hallmark (90%) HP:0002615
25 delayed skeletal maturation 32 hallmark (90%) HP:0002750
26 hyponatremia 32 hallmark (90%) HP:0002902
27 increased circulating acth level 32 hallmark (90%) HP:0003154
28 decreased circulating aldosterone level 32 hallmark (90%) HP:0004319
29 abnormal oral glucose tolerance 32 hallmark (90%) HP:0004924
30 accelerated skeletal maturation 32 hallmark (90%) HP:0005616
31 generalized hyperpigmentation 32 hallmark (90%) HP:0007440
32 decreased circulating cortisol level 32 hallmark (90%) HP:0008163
33 absence of secondary sex characteristics 32 frequent (33%) HP:0008187
34 androgen insufficiency 32 hallmark (90%) HP:0008226
35 elevated circulating follicle stimulating hormone level 32 hallmark (90%) HP:0008232
36 congenital adrenal hyperplasia 32 hallmark (90%) HP:0008258
37 clitoral hypertrophy 32 frequent (33%) HP:0008665
38 enlarged polycystic ovaries 32 frequent (33%) HP:0008675
39 female external genitalia in individual with 46,xy karyotype 32 hallmark (90%) HP:0008730
40 decreased testicular size 32 frequent (33%) HP:0008734
41 hypovolemia 32 hallmark (90%) HP:0011106
42 ectopic adrenal gland 32 occasional (7.5%) HP:0011742
43 adrenocorticotropic hormone excess 32 hallmark (90%) HP:0011749
44 feeding difficulties 32 hallmark (90%) HP:0011968
45 elevated circulating luteinizing hormone level 32 hallmark (90%) HP:0011969
46 decreased fertility in males 32 frequent (33%) HP:0012041
47 abnormal sex determination 32 hallmark (90%) HP:0012244
48 premature adrenarche 32 hallmark (90%) HP:0012412
49 hypernatriuria 32 hallmark (90%) HP:0012605
50 abnormality of the labia majora 32 occasional (7.5%) HP:0012881

GenomeRNAi Phenotypes related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 CYP21A2 HSD3BP4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 CYP21A2 HSD3BP4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.4 HSD3BP4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 CYP21A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 CYP21A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 HSD3BP4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.4 CYP21A2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 CYP21A2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.4 HSD3BP4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.4 HSD3BP4

Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Drugs for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Androgens
4 Hormone Antagonists
5 Hormones
6 Hormones, Hormone Substitutes, and Hormone Antagonists
7 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

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

Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

# Genetic test Affiliating Genes
1 3 Beta-Hydroxysteroid Dehydrogenase Deficiency 29 HSD3B2

Anatomical Context for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

41
Adrenal Gland, Ovary, Testes, Kidney, Pituitary, Bone

Publications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Articles related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

(show all 43)
# Title Authors Year
1
[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency]. ( 15559435 )
2004
2
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. ( 11344940 )
2001
3
Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation. ( 9251925 )
1997
4
Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency. ( 9029734 )
1997
5
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. ( 8777917 )
1996
6
Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency. ( 7626445 )
1995
7
Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency. ( 7633460 )
1995
8
Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency. ( 7590644 )
1995
9
A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. ( 7633426 )
1995
10
[Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]. ( 7984541 )
1994
11
Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency. ( 7962268 )
1994
12
Non-classical 3 beta-hydroxysteroid dehydrogenase deficiency in children in central Iowa. Difficulties in differentiating this entity from cases of precocious adrenarche without an adrenal enzyme defect. ( 8186821 )
1994
13
Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation. ( 8000336 )
1994
14
[3 beta-Hydroxysteroid dehydrogenase deficiency]. ( 7757657 )
1993
15
3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. ( 8456898 )
1993
16
Partial 3 beta-hydroxysteroid dehydrogenase deficiency presenting as new-onset gynecomastia in a eugonadal adult male. ( 8446050 )
1993
17
Mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. ( 8284113 )
1993
18
Late-onset 3 beta-hydroxysteroid dehydrogenase deficiency with virilization induced by a large ovarian cyst. ( 8112725 )
1993
19
Molecular basis of congenital adrenal hyperplasia due to 3 beta- hydroxysteroid dehydrogenase deficiency. ( 8316254 )
1993
20
Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. ( 8077318 )
1993
21
A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency. ( 7951484 )
1993
22
The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women. ( 1330378 )
1992
23
[Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]. ( 1295433 )
1992
24
Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism. ( 1309452 )
1992
25
Hirsutism due to late onset 3 beta-hydroxysteroid dehydrogenase deficiency. ( 1332666 )
1992
26
Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients. ( 1623993 )
1992
27
[Polycystic ovary syndrome as expression of 3-beta-hydroxysteroid dehydrogenase deficiency]. ( 1668983 )
1991
28
Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency in young girls with hirsutism and premature pubarche. ( 2150813 )
1990
29
Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD). ( 2362435 )
1990
30
Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency with hyperaldosteronism. ( 3220046 )
1988
31
Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty. ( 2826919 )
1987
32
Detection of 3 beta-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis. ( 3479282 )
1987
33
Normal ovarian function in a mild form of late-onset 3 beta-hydroxysteroid dehydrogenase deficiency. ( 3023147 )
1986
34
Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3-beta-hydroxysteroid dehydrogenase deficiency. ( 3160950 )
1985
35
Late-onset adrenal steroid 3 beta-hydroxysteroid dehydrogenase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. ( 2982896 )
1985
36
Detection of 3 beta-hydroxysteroid-dehydrogenase deficiency by urinary steroid profiling: solvolysis of urinary samples should be a necessary prerequisite. ( 3157507 )
1985
37
Possible testicular 3 beta-hydroxysteroid dehydrogenase deficiency in cryptorchid neonates. ( 6136257 )
1983
38
Nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. ( 6300166 )
1983
39
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency. ( 6968003 )
1980
40
Plasma and urinary androgens and oestrogens in a pubertal boy with 3 beta-hydroxysteroid dehydrogenase deficiency. ( 6247574 )
1980
41
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. ( 295036 )
1979
42
CONCURRENT 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY IN ADRENAL AND SCLEROCYSTIC OVARY. ( 14260992 )
1965
43
Adrenogenital syndrome. Association with 3-beta-hydroxysteroid dehydrogenase deficiency. ( 5846696 )
1965

Variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

ClinVar genetic disease variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD3B2 NM_001166120.1(HSD3B2): c.512G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs80358216 GRCh37 Chromosome 1, 119964636: 119964636
2 HSD3B2 NM_001166120.1(HSD3B2): c.512G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs80358216 GRCh38 Chromosome 1, 119422013: 119422013
3 HSD3B2 HSD3B2, 1-BP INS insertion Pathogenic
4 HSD3B2 NM_001166120.1(HSD3B2): c.742_743delGTinsAA (p.Val248Asn) indel Pathogenic rs121964896 GRCh37 Chromosome 1, 119964866: 119964867
5 HSD3B2 NM_001166120.1(HSD3B2): c.742_743delGTinsAA (p.Val248Asn) indel Pathogenic rs121964896 GRCh38 Chromosome 1, 119422243: 119422244
6 HSD3B2 NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu) single nucleotide variant Pathogenic rs28934880 GRCh37 Chromosome 1, 119958071: 119958071
7 HSD3B2 NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu) single nucleotide variant Pathogenic rs28934880 GRCh38 Chromosome 1, 119415448: 119415448
8 HSD3B2 NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys) single nucleotide variant Pathogenic rs80358218 GRCh37 Chromosome 1, 119965243: 119965243
9 HSD3B2 NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys) single nucleotide variant Pathogenic rs80358218 GRCh38 Chromosome 1, 119422620: 119422620
10 HSD3B2 NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs80358219 GRCh37 Chromosome 1, 119964548: 119964548
11 HSD3B2 NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs80358219 GRCh38 Chromosome 1, 119421925: 119421925
12 HSD3B2 NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr) single nucleotide variant Pathogenic rs80358220 GRCh37 Chromosome 1, 119964788: 119964788
13 HSD3B2 NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr) single nucleotide variant Pathogenic rs80358220 GRCh38 Chromosome 1, 119422165: 119422165
14 HSD3B2 NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs80358221 GRCh37 Chromosome 1, 119964900: 119964900
15 HSD3B2 NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs80358221 GRCh38 Chromosome 1, 119422277: 119422277
16 HSD3B2 HSD3B2, 1-BP DEL, 867G deletion Pathogenic
17 HSD3B2 NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu) single nucleotide variant Pathogenic rs121964897 GRCh37 Chromosome 1, 119965146: 119965146
18 HSD3B2 NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu) single nucleotide variant Pathogenic rs121964897 GRCh38 Chromosome 1, 119422523: 119422523
19 HSD3B2 NM_001166120.1(HSD3B2): c.1064G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs767128094 GRCh38 Chromosome 1, 119422565: 119422565
20 HSD3B2 NM_001166120.1(HSD3B2): c.1064G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs767128094 GRCh37 Chromosome 1, 119965188: 119965188

Expression for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

Pathways for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

GO Terms for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Biological processes related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.16 CYP21A2 HSD3B2
2 glucocorticoid biosynthetic process GO:0006704 8.96 CYP21A2 HSD3B2
3 mineralocorticoid biosynthetic process GO:0006705 8.62 CYP21A2 HSD3B2

Molecular functions related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 CYP21A2 HSD3B2

Sources for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....