AH2
MCID: 3BT003
MIFTS: 33

3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency (AH2) malady

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

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

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

Name: 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 54 13
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 50 25 29
Adrenal Hyperplasia 2 50 66 69
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 50 56
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 50 56
3b-Hydroxysteroid Dehydrogenase Deficiency 50 25
3-Beta-Hsd Deficiency 50 66
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 66
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 66
3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency of 54
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 50
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 66
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 25
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 25
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 69
3β-Hydroxysteroid Dehydrogenase Deficiency 25
3 Beta-Ol Dehydrogenase Deficiency 25
Hydroxysteroid Dehydrogenase 3 13
Adrenal Hyperplasia Type Ii 66
Adrenal Hyperplasia Ii 50
3 Beta-Hsd Deficiency 25
3β-Hsd Deficiency 25
Hsd3b Deficiency 50
Ah-Ii 66
Ah2 66

Characteristics:

Orphanet epidemiological data:

56
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:

OMIM 54 201810
Orphanet 56 ORPHA90791
ICD10 via Orphanet 34 E25.0
MedGen 40 C0342471
MeSH 42 D000312

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

NIH Rare Diseases : 50 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 vomiting, hypotension and delayed skeletal maturation. 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 : 66 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: 201810

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

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

id Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 2 12.3
2 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia 12.3
3 pseudohermaphroditism, male, with gynecomastia 12.0
4 acth-independent macronodular adrenal hyperplasia 11.0
5 polycystic ovary syndrome 10.1
6 congenital adrenal hyperplasia 10.1
7 hyperandrogenism 10.1
8 pseudohermaphroditism 10.0

Graphical network of the top 20 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

Clinical features from OMIM:

201810

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

56 32 (show top 50) (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 56 32 Very frequent (99-80%) HP:0002013
2 hypotension 56 32 Very frequent (99-80%) HP:0002615
3 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
4 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
5 dehydration 56 32 Very frequent (99-80%) HP:0001944
6 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
7 feeding difficulties 56 32 Very frequent (99-80%) HP:0011968
8 acne 56 32 Occasional (29-5%) HP:0001061
9 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
10 hypospadias 56 32 Very frequent (99-80%) HP:0000047
11 absence of secondary sex characteristics 56 32 Frequent (79-30%) HP:0008187
12 decreased testicular size 56 32 Frequent (79-30%) HP:0008734
13 hyponatremia 56 32 Very frequent (99-80%) HP:0002902
14 abnormality of the menstrual cycle 56 32 Very frequent (99-80%) HP:0000140
15 gynecomastia 56 32 Frequent (79-30%) HP:0000771
16 male pseudohermaphroditism 56 32 Very frequent (99-80%) HP:0000037
17 bifid scrotum 56 32 Frequent (79-30%) HP:0000048
18 enlarged polycystic ovaries 56 32 Frequent (79-30%) HP:0008675
19 generalized hyperpigmentation 56 32 Very frequent (99-80%) HP:0007440
20 accelerated skeletal maturation 56 32 Very frequent (99-80%) HP:0005616
21 ambiguous genitalia, male 56 32 Very frequent (99-80%) HP:0000033
22 perineal hypospadias 56 32 Very frequent (99-80%) HP:0000051
23 urogenital sinus anomaly 56 32 Very frequent (99-80%) HP:0100779
24 renal salt wasting 56 32 Very frequent (99-80%) HP:0000127
25 increased circulating renin level 56 32 Very frequent (99-80%) HP:0000848
26 acidosis 56 32 Very frequent (99-80%) HP:0001941
27 neonatal hypoglycemia 56 32 Very frequent (99-80%) HP:0001998
28 hyperkalemia 56 32 Very frequent (99-80%) HP:0002153
29 decreased circulating aldosterone level 56 32 Very frequent (99-80%) HP:0004319
30 increased circulating acth level 56 32 Very frequent (99-80%) HP:0003154
31 hypernatriuria 56 32 Very frequent (99-80%) HP:0012605
32 decreased circulating cortisol level 56 32 Very frequent (99-80%) HP:0008163
33 elevated follicle stimulating hormone 56 32 Very frequent (99-80%) HP:0008232
34 female external genitalia in individual with 46,xy karyotype 56 32 Very frequent (99-80%) HP:0008730
35 hypovolemia 56 32 Very frequent (99-80%) HP:0011106
36 adrenocorticotropic hormone excess 56 32 Very frequent (99-80%) HP:0011749
37 elevated luteinizing hormone 56 32 Very frequent (99-80%) HP:0011969
38 abnormal sex determination 56 32 Very frequent (99-80%) HP:0012244
39 decreased fertility in females 56 32 Frequent (79-30%) HP:0000868
40 decreased fertility in males 56 32 Frequent (79-30%) HP:0012041
41 insulin resistance 56 32 Frequent (79-30%) HP:0000855
42 hirsutism 56 32 Occasional (29-5%) HP:0001007
43 glucose intolerance 56 32 Very frequent (99-80%) HP:0000833
44 abnormal oral glucose tolerance 56 32 Very frequent (99-80%) HP:0004924
45 ambiguous genitalia, female 56 32 Frequent (79-30%) HP:0000061
46 premature adrenarche 56 32 Very frequent (99-80%) HP:0012412
47 hyperpigmented genitalia 56 32 Frequent (79-30%) HP:0030258
48 abnormality of the labia majora 56 32 Occasional (29-5%) HP:0012881
49 adrenogenital syndrome 56 32 Very frequent (99-80%) HP:0000840
50 androgen insufficiency 56 32 Very frequent (99-80%) HP:0008226

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

Search Clinical Trials , NIH Clinical Center for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

Genetic Tests for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

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

Anatomical Context for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

39
Adrenal Gland, Ovary, Testes, Kidney, Bone

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

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

UniProtKB/Swiss-Prot genetic disease variations for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency:

66 (show all 27)
id Symbol AA change Variation ID SNP ID
1 HSD3B2 p.Glu142Lys VAR_000006 rs80358219
2 HSD3B2 p.Leu205Pro VAR_000007
3 HSD3B2 p.Ala245Pro VAR_000008
4 HSD3B2 p.Tyr253Asn VAR_000009
5 HSD3B2 p.Tyr254Asp VAR_000010
6 HSD3B2 p.Thr259Arg VAR_000011
7 HSD3B2 p.Ala10Glu VAR_010517 rs28934880
8 HSD3B2 p.Ala10Val VAR_010518
9 HSD3B2 p.Gly15Asp VAR_010519
10 HSD3B2 p.Ala82Thr VAR_010520 rs757033996
11 HSD3B2 p.Asn100Ser VAR_010521
12 HSD3B2 p.Leu108Trp VAR_010522
13 HSD3B2 p.Gly129Arg VAR_010523 rs587628683
14 HSD3B2 p.Pro155Leu VAR_010524 rs779418168
15 HSD3B2 p.Ala167Val VAR_010525 rs35486059
16 HSD3B2 p.Leu173Arg VAR_010526 rs762479018
17 HSD3B2 p.Pro186Leu VAR_010527
18 HSD3B2 p.Ser213Gly VAR_010528 rs759422374
19 HSD3B2 p.Lys216Glu VAR_010529
20 HSD3B2 p.Pro222His VAR_010530
21 HSD3B2 p.Pro222Gln VAR_010531 rs765547422
22 HSD3B2 p.Leu236Ser VAR_010533 rs35887327
23 HSD3B2 p.Thr259Met VAR_010534 rs80358221
24 HSD3B2 p.Gly294Val VAR_010535
25 HSD3B2 p.Pro222Thr VAR_015411 rs80358220
26 HSD3B2 p.Pro341Leu VAR_065665 rs121964897
27 HSD3B2 p.Ala82Pro VAR_070028

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

6
id 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 HSD3B2, 1-BP INS insertion Pathogenic
3 HSD3B2 NM_001166120.1(HSD3B2): c.742_743delGTinsAA (p.Val248Asn) indel Pathogenic rs121964896 GRCh37 Chromosome 1, 119964866: 119964867
4 HSD3B2 NM_001166120.1(HSD3B2): c.29C> A (p.Ala10Glu) single nucleotide variant Pathogenic rs28934880 GRCh37 Chromosome 1, 119958071: 119958071
5 HSD3B2 NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys) single nucleotide variant Pathogenic rs80358218 GRCh37 Chromosome 1, 119965243: 119965243
6 HSD3B2 NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs80358219 GRCh37 Chromosome 1, 119964548: 119964548
7 HSD3B2 NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr) single nucleotide variant Pathogenic rs80358220 GRCh37 Chromosome 1, 119964788: 119964788
8 HSD3B2 NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met) single nucleotide variant Pathogenic rs80358221 GRCh37 Chromosome 1, 119964900: 119964900
9 HSD3B2 HSD3B2, 1-BP DEL, 867G deletion Pathogenic
10 HSD3B2 NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu) single nucleotide variant Pathogenic rs121964897 GRCh37 Chromosome 1, 119965146: 119965146

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

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

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

GO Terms for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency

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

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