MCID: 3BT001
MIFTS: 40

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Categories: Endocrine diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

Name: 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 20 43
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 29 6 39 70
3b-Hydroxysteroid Dehydrogenase Deficiency 20 43
Adrenal Hyperplasia 2 20 70
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 20
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 20
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 20
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 43
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 43
3β-Hydroxysteroid Dehydrogenase Deficiency 43
3 Beta-Ol Dehydrogenase Deficiency 43
Adrenal Hyperplasia Ii 20
3-Beta-Hsd Deficiency 20
3 Beta-Hsd Deficiency 43
3β-Hsd Deficiency 43
Hsd3b Deficiency 20

Classifications:



Summaries for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

MedlinePlus Genetics : 43 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.There are three types of 3β-HSD deficiency: the salt-wasting, non-salt-wasting, and non-classic types. In the salt-wasting type, hormone production is extremely low. Individuals with this type lose large amounts of sodium in their urine, which can be life-threatening. Individuals affected with the salt-wasting type are usually diagnosed soon after birth due to complications related to a lack of salt reabsorption, including dehydration, poor feeding, and vomiting. People with the non-salt-wasting type of 3β-HSD deficiency produce enough hormone to allow sodium reabsorption in the kidneys. Individuals with the non-classic type have the mildest symptoms and do not experience salt wasting.In males with any type of 3β-HSD deficiency, problems with male sex hormones lead to abnormalities of the external genitalia. These abnormalities range from having the opening of the urethra on the underside of the penis (hypospadias) to having external genitalia that do not look clearly male or female (ambiguous genitalia). The severity of the genital abnormality does not consistently depend on the type of the condition. Because of the hormone dysfunction in the testes, males with 3β-HSD deficiency are frequently unable to have biological children (infertile).Females with 3β-HSD deficiency may have slight abnormalities of the external genitalia at birth. Females affected with the non-salt-wasting or non-classic types are typically not diagnosed until mid-childhood or puberty, when they may experience irregular menstruation, premature pubic hair growth, and excessive body hair growth (hirsutism). Females with 3β-HSD deficiency have difficulty conceiving a child (impaired fertility).

MalaCards based summary : 3-Beta-Hydroxysteroid Dehydrogenase Deficiency, also known as 3 beta-hydroxysteroid dehydrogenase deficiency, is related to lipoid congenital adrenal hyperplasia and hyperandrogenism. 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. Affiliated tissues include testes, adrenal gland and ovary, and related phenotypes are hypotension and delayed skeletal maturation

GARD : 20 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.

Related Diseases for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 30.9 HSD3B2 CYP21A2
2 hyperandrogenism 30.5 HSD3B2 CYP21A2
3 adrenogenital syndrome 30.4 HSD3BP4 CYP21A2
4 pseudohermaphroditism 30.0 HSD3BP4 HSD3B2 CYP21A2
5 disorder of sexual development 30.0 HSD3B2 CYP21A2
6 polycystic ovary syndrome 29.9 HSD3B2 CYP21A2
7 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.9
8 acth-independent macronodular adrenal hyperplasia 2 11.8
9 acth-independent macronodular adrenal hyperplasia 11.2
10 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.5
11 amenorrhea 10.4
12 hypospadias 10.3
13 infant gynecomastia 10.3
14 gynecomastia 10.3
15 acne 10.3
16 infertility 10.2
17 niemann-pick disease, type c1 10.1
18 androgen insensitivity syndrome 10.1
19 niemann-pick disease 10.1
20 acid sphingomyelinase deficiency 10.1
21 hypogonadism 10.1
22 myoma 10.1
23 ovarian cyst 10.1
24 alopecia 10.1
25 precocious puberty 10.1
26 adrenal rest tumor 10.0 HSD3B2 CYP21A2
27 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 HSD3B2 CYP21A2
28 46,xy sex reversal 10.0 HSD3B2 CYP21A2
29 steroid inherited metabolic disorder 9.9 HSD3B2 CYP21A2
30 corticosterone methyloxidase type i deficiency 9.9 HSD3B2 CYP21A2
31 46,xy sex reversal 2 9.9 HSD3B2 CYP21A2
32 adrenal cortex disease 9.9 HSD3B2 CYP21A2
33 hypoadrenocorticism, familial 9.9 HSD3B2 CYP21A2
34 adrenal gland disease 9.9 HSD3B2 CYP21A2
35 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 9.9
36 leydig cell tumor 9.9 HSD3BP4 CYP21A2
37 familial glucocorticoid deficiency 9.8 HSD3B2 CYP21A2
38 adrenal carcinoma 9.7 HSD3B2 CYP21A2

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:

31 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 hypotension 31 hallmark (90%) HP:0002615
2 delayed skeletal maturation 31 hallmark (90%) HP:0002750
3 delayed puberty 31 hallmark (90%) HP:0000823
4 dehydration 31 hallmark (90%) HP:0001944
5 vomiting 31 hallmark (90%) HP:0002013
6 cryptorchidism 31 hallmark (90%) HP:0000028
7 osteoporosis 31 hallmark (90%) HP:0000939
8 hyponatremia 31 hallmark (90%) HP:0002902
9 abnormality of the menstrual cycle 31 hallmark (90%) HP:0000140
10 generalized hyperpigmentation 31 hallmark (90%) HP:0007440
11 hyperkalemia 31 hallmark (90%) HP:0002153
12 male pseudohermaphroditism 31 hallmark (90%) HP:0000037
13 neonatal hypoglycemia 31 hallmark (90%) HP:0001998
14 accelerated skeletal maturation 31 hallmark (90%) HP:0005616
15 ambiguous genitalia, male 31 hallmark (90%) HP:0000033
16 perineal hypospadias 31 hallmark (90%) HP:0000051
17 urogenital sinus anomaly 31 hallmark (90%) HP:0100779
18 feeding difficulties 31 hallmark (90%) HP:0011968
19 premature adrenarche 31 hallmark (90%) HP:0012412
20 decreased circulating aldosterone level 31 hallmark (90%) HP:0004319
21 elevated circulating follicle stimulating hormone level 31 hallmark (90%) HP:0008232
22 female external genitalia in individual with 46,xy karyotype 31 hallmark (90%) HP:0008730
23 elevated circulating luteinizing hormone level 31 hallmark (90%) HP:0011969
24 abnormal sex determination 31 hallmark (90%) HP:0012244
25 hypovolemia 31 hallmark (90%) HP:0011106
26 congenital adrenal hyperplasia 31 hallmark (90%) HP:0008258
27 increased circulating acth level 31 hallmark (90%) HP:0003154
28 decreased circulating cortisol level 31 hallmark (90%) HP:0008163
29 adrenocorticotropic hormone excess 31 hallmark (90%) HP:0011749
30 renal salt wasting 31 hallmark (90%) HP:0000127
31 adrenogenital syndrome 31 hallmark (90%) HP:0000840
32 hypernatriuria 31 hallmark (90%) HP:0012605
33 increased circulating renin level 31 hallmark (90%) HP:0000848
34 acidosis 31 hallmark (90%) HP:0001941
35 abnormal oral glucose tolerance 31 hallmark (90%) HP:0004924
36 androgen insufficiency 31 hallmark (90%) HP:0008226
37 bifid scrotum 31 frequent (33%) HP:0000048
38 gynecomastia 31 frequent (33%) HP:0000771
39 decreased testicular size 31 frequent (33%) HP:0008734
40 enlarged polycystic ovaries 31 frequent (33%) HP:0008675
41 insulin resistance 31 frequent (33%) HP:0000855
42 decreased fertility in males 31 frequent (33%) HP:0012041
43 clitoral hypertrophy 31 frequent (33%) HP:0008665
44 decreased fertility in females 31 frequent (33%) HP:0000868
45 absence of secondary sex characteristics 31 frequent (33%) HP:0008187
46 ambiguous genitalia, female 31 frequent (33%) HP:0000061
47 hyperpigmented genitalia 31 frequent (33%) HP:0030258
48 acne 31 occasional (7.5%) HP:0001061
49 hirsutism 31 occasional (7.5%) HP:0001007
50 ectopic adrenal gland 31 occasional (7.5%) HP:0011742

Drugs & Therapeutics for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Search Clinical Trials , 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:

40
Testes, Adrenal Gland, Ovary, Pituitary, Testis

Publications for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Articles related to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency:

(show top 50) (show all 79)
# Title Authors PMID Year
1
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. 61 6
8284113 1993
2
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. 61 6
295036 1979
3
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 6
18252794 2008
4
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. 6
12050213 2002
5
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. 6
10843183 2000
6
Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3beta-hydroxysteroid dehydrogenase (3betaHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3betaHSD deficiency disorder. 6
10770215 2000
7
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. 6
10599696 1999
8
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. 6
1363812 1992
9
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit. 61
29420188 2018
10
[Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency]. 61
15559435 2004
11
The prevalence of late onset congenital adrenal hyperplasia in hirsute women from Central Anatolia. 61
14709856 2003
12
Sigmoid reconfigured vaginal construction in children. 61
11547104 2001
13
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. 61
11344940 2001
14
Congenital adrenal hyperplasia in pregnancy. 61
9880115 1998
15
Congenital adrenal hyperplasia. 61
9536212 1997
16
Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome. 61
9120982 1997
17
Structure-function relationships of 3 beta-hydroxysteroid dehydrogenase: contribution made by the molecular genetics of 3 beta-hydroxysteroid dehydrogenase deficiency. 61
9029734 1997
18
Pubertal changes in testicular 3 beta-hydroxysteroid dehydrogenase activity in a male with classical 3 beta-hydroxysteroid dehydrogenase deficiency showing spontaneous secondary sexual maturation. 61
9251925 1997
19
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. 61
8777917 1996
20
High prevalence of abnormal adrenal response in girls with central precocious puberty at early pubertal stages. 61
7581962 1995
21
Defects in steroidogenic enzymes. Discrepancies between clinical steroid research and molecular biology results. 61
7626448 1995
22
Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency. 61
7626445 1995
23
Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency. 61
7633460 1995
24
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. 61
7633426 1995
25
Serum and urinary steroids in girls with precocious pubarche and/or hirsutism due to mild 3-beta-hydroxysteroid dehydrogenase deficiency. 61
7590644 1995
26
Anti-müllerian hormone in children with androgen insensitivity. 61
7962305 1994
27
[Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]. 61
7984541 1994
28
Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency. 61
7962268 1994
29
Isolated precocious pubarche: an approach. 61
8045980 1994
30
Hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency with accessory adrenocortical tissue: a hormonal and metabolic evaluation. 61
8000336 1994
31
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. 61
8186821 1994
32
Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt-wasting 3 beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. 61
8077318 1993
33
Hyperandrogenism in female adolescents. 61
8374678 1993
34
Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. 61
8316254 1993
35
3 beta-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. 61
8456898 1993
36
A case of late-onset congenital adrenal hyperplasia due to partial 3 beta-hydroxysteroid dehydrogenase deficiency. 61
7951484 1993
37
Late-onset 3 beta-hydroxysteroid dehydrogenase deficiency with virilization induced by a large ovarian cyst. 61
8112725 1993
38
Partial 3 beta-hydroxysteroid dehydrogenase deficiency presenting as new-onset gynecomastia in a eugonadal adult male. 61
8446050 1993
39
[3 beta-Hydroxysteroid dehydrogenase deficiency]. 61
7757657 1993
40
Hirsutism due to late onset 3 beta-hydroxysteroid dehydrogenase deficiency. 61
1332666 1992
41
Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients. 61
1623993 1992
42
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. 61
1605242 1992
43
The incidence of late-onset congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency among hirsute women. 61
1330378 1992
44
Adrenal steroidogenic defects in children with precocious pubarche. 61
1337057 1992
45
Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism. 61
1309452 1992
46
[Partial 3-beta-hydroxysteroid dehydrogenase deficiencies]. 61
1295433 1992
47
[Dehydroepiandrosterone and dehydroepiandrosterone-sulfate content of the amniotic fluid]. 61
1834971 1991
48
Adrenal and ovarian steroid hormone responses to gonadotropin-releasing hormone agonist treatment in polycystic ovary syndrome. 61
1832519 1991
49
17 alpha-hydroxylation deficiency. 61
1879398 1991
50
[Polycystic ovary syndrome as expression of 3-beta-hydroxysteroid dehydrogenase deficiency]. 61
1668983 1991

Variations for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

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

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD3B2 NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) SNV Pathogenic 12184 rs80358216 GRCh37: 1:119964636-119964636
GRCh38: 1:119422013-119422013
2 HSD3B2 NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) Duplication Pathogenic 12185 rs770815049 GRCh37: 1:119964679-119964680
GRCh38: 1:119422056-119422057
3 HSD3B2 NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) SNV Pathogenic 12188 rs28934880 GRCh37: 1:119958071-119958071
GRCh38: 1:119415448-119415448
4 HSD3B2 NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) SNV Pathogenic 12189 rs80358218 GRCh37: 1:119965243-119965243
GRCh38: 1:119422620-119422620
5 HSD3B2 NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) SNV Pathogenic 12190 rs80358219 GRCh37: 1:119964548-119964548
GRCh38: 1:119421925-119421925
6 HSD3B2 NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) SNV Pathogenic 12191 rs80358220 GRCh37: 1:119964788-119964788
GRCh38: 1:119422165-119422165
7 HSD3B2 NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) SNV Pathogenic 12192 rs80358221 GRCh37: 1:119964900-119964900
GRCh38: 1:119422277-119422277
8 HSD3B2 NM_000198.4(HSD3B2):c.867del (p.Met290fs) Deletion Pathogenic 12193 rs767167623 GRCh37: 1:119964991-119964991
GRCh38: 1:119422368-119422368
9 HSD3B2 NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) SNV Pathogenic 12194 rs121964897 GRCh37: 1:119965146-119965146
GRCh38: 1:119422523-119422523
10 HSD3B2 NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn) Indel Pathogenic 12186 rs121964896 GRCh37: 1:119964866-119964867
GRCh38: 1:119422243-119422244
11 HSD3B2 NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) SNV Pathogenic 12187 GRCh37: 1:119964869-119964869
GRCh38: 1:119422246-119422246
12 HSD3B2 NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) SNV Likely pathogenic 517183 rs767128094 GRCh37: 1:119965188-119965188
GRCh38: 1:119422565-119422565
13 HSD3B2 NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala) SNV Uncertain significance 874297 GRCh37: 1:119964783-119964783
GRCh38: 1:119422160-119422160
14 HSD3B2 NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) SNV Uncertain significance 874298 GRCh37: 1:119964933-119964933
GRCh38: 1:119422310-119422310
15 HSD3B2 NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) SNV Uncertain significance 874299 GRCh37: 1:119965136-119965136
GRCh38: 1:119422513-119422513
16 LOC109029530 , HSD3B2 NM_000198.4(HSD3B2):c.-106T>C SNV Uncertain significance 876143 GRCh37: 1:119957809-119957809
GRCh38: 1:119415186-119415186
17 HSD3B2 NM_000198.4(HSD3B2):c.308-14C>A SNV Uncertain significance 876144 GRCh37: 1:119964418-119964418
GRCh38: 1:119421795-119421795
18 HSD3B2 NM_000198.4(HSD3B2):c.*411T>C SNV Uncertain significance 876191 GRCh37: 1:119965654-119965654
GRCh38: 1:119423031-119423031
19 HSD3B2 NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) SNV Uncertain significance 715626 rs114527791 GRCh37: 1:119964589-119964589
GRCh38: 1:119421966-119421966
20 HSD3B2 NM_000198.4(HSD3B2):c.*46C>T SNV Uncertain significance 292269 rs371081728 GRCh37: 1:119965289-119965289
GRCh38: 1:119422666-119422666
21 HSD3B2 NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) SNV Uncertain significance 292258 rs886045196 GRCh37: 1:119964457-119964457
GRCh38: 1:119421834-119421834
22 HSD3B2 NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) SNV Uncertain significance 292255 rs376207606 GRCh37: 1:119958055-119958055
GRCh38: 1:119415432-119415432
23 HSD3B2 NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) SNV Uncertain significance 292261 rs886045197 GRCh37: 1:119964634-119964634
GRCh38: 1:119422011-119422011
24 HSD3B2 NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) SNV Uncertain significance 292267 rs781770416 GRCh37: 1:119965180-119965180
GRCh38: 1:119422557-119422557
25 HSD3B2 NM_000198.4(HSD3B2):c.*397T>A SNV Uncertain significance 292276 rs753468192 GRCh37: 1:119965640-119965640
GRCh38: 1:119423017-119423017
26 HSD3B2 NM_000198.4(HSD3B2):c.*121C>A SNV Uncertain significance 292271 rs886045198 GRCh37: 1:119965364-119965364
GRCh38: 1:119422741-119422741
27 HSD3B2 NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) SNV Uncertain significance 292266 rs771688849 GRCh37: 1:119964913-119964913
GRCh38: 1:119422290-119422290
28 HSD3B2 NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) SNV Uncertain significance 292263 rs587669956 GRCh37: 1:119964749-119964749
GRCh38: 1:119422126-119422126
29 HSD3B2 NM_000198.4(HSD3B2):c.*177C>T SNV Uncertain significance 292272 rs886045199 GRCh37: 1:119965420-119965420
GRCh38: 1:119422797-119422797
30 HSD3B2 NM_000198.4(HSD3B2):c.*9T>A SNV Uncertain significance 990730 GRCh37: 1:119965252-119965252
GRCh38: 1:119422629-119422629
31 HSD3B2 NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) SNV Uncertain significance 36370 rs35887327 GRCh37: 1:119964831-119964831
GRCh38: 1:119422208-119422208
32 HSD3B2 NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) SNV Uncertain significance 292264 rs755461071 GRCh37: 1:119964874-119964874
GRCh38: 1:119422251-119422251
33 HSD3B2 NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) SNV Uncertain significance 292256 rs150892928 GRCh37: 1:119962120-119962120
GRCh38: 1:119419497-119419497
34 HSD3B2 NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) SNV Uncertain significance 292262 rs143758913 GRCh37: 1:119964745-119964745
GRCh38: 1:119422122-119422122
35 HSD3B2 NM_000198.4(HSD3B2):c.423C>T (p.His141=) SNV Uncertain significance 292259 rs751470493 GRCh37: 1:119964547-119964547
GRCh38: 1:119421924-119421924
36 HSD3B2 NM_000198.4(HSD3B2):c.308-8G>A SNV Uncertain significance 292257 rs371712928 GRCh37: 1:119964424-119964424
GRCh38: 1:119421801-119421801
37 HSD3B2 NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) SNV Uncertain significance 292260 rs6207 GRCh37: 1:119964625-119964625
GRCh38: 1:119422002-119422002
38 HSD3B2 NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) SNV Uncertain significance 726142 rs34412477 GRCh37: 1:119965084-119965084
GRCh38: 1:119422461-119422461
39 HSD3B2 NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val) SNV Uncertain significance 990727 GRCh37: 1:119964752-119964752
GRCh38: 1:119422129-119422129
40 HSD3B2 NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=) SNV Uncertain significance 990728 GRCh37: 1:119964796-119964796
GRCh38: 1:119422173-119422173
41 HSD3B2 NM_000198.4(HSD3B2):c.308-9C>T SNV Uncertain significance 736354 rs375047799 GRCh37: 1:119964423-119964423
GRCh38: 1:119421800-119421800
42 HSD3B2 NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) SNV Uncertain significance 724290 rs35486059 GRCh37: 1:119964624-119964624
GRCh38: 1:119422001-119422001
43 HSD3B2 NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys) Indel Uncertain significance 1028127 GRCh37: 1:119965179-119965180
GRCh38: 1:119422556-119422557
44 HSD3B2 NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln) SNV Likely benign 990729 GRCh37: 1:119964870-119964870
GRCh38: 1:119422247-119422247
45 HSD3B2 NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) SNV Likely benign 753566 rs370732845 GRCh37: 1:119958166-119958166
GRCh38: 1:119415543-119415543
46 HSD3B2 NM_000198.4(HSD3B2):c.613C>T (p.Leu205=) SNV Likely benign 738184 rs138811555 GRCh37: 1:119964737-119964737
GRCh38: 1:119422114-119422114
47 HSD3B2 NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) SNV Likely benign 792224 rs116342586 GRCh37: 1:119965138-119965138
GRCh38: 1:119422515-119422515
48 HSD3B2 NM_000198.4(HSD3B2):c.*321C>G SNV Benign 292275 rs1361530 GRCh37: 1:119965564-119965564
GRCh38: 1:119422941-119422941
49 HSD3B2 NM_000198.4(HSD3B2):c.*276C>T SNV Benign 292274 rs1819698 GRCh37: 1:119965519-119965519
GRCh38: 1:119422896-119422896
50 HSD3B2 NM_000198.4(HSD3B2):c.*202A>G SNV Benign 292273 rs9282704 GRCh37: 1:119965445-119965445
GRCh38: 1:119422822-119422822

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

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

# Super pathways Score Top Affiliating Genes
1 11.12 HSD3B2 CYP21A2
2
Show member pathways
10.86 HSD3B2 CYP21A2
3
Show member pathways
10.45 HSD3B2 CYP21A2

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 HSD3B2 CYP21A2
2 glucocorticoid biosynthetic process GO:0006704 8.96 HSD3B2 CYP21A2
3 mineralocorticoid biosynthetic process GO:0006705 8.62 HSD3B2 CYP21A2

Sources for 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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