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

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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
6congenital adrenal hyperplasia10.1
7hyperandrogenism10.1
8pseudohermaphroditism10.0

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 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Very frequent (99-80%) HP:0000028
2 ambiguous genitalia, male64 54 Very frequent (99-80%) HP:0000033
3 male pseudohermaphroditism64 54 Very frequent (99-80%) HP:0000037
4 hypospadias64 54 Very frequent (99-80%) HP:0000047
5 bifid scrotum64 54 Frequent (79-30%) HP:0000048
6 perineal hypospadias64 54 Very frequent (99-80%) HP:0000051
7 clitoromegaly54 Frequent (79-30%)
8 ambiguous genitalia, female64 54 Frequent (79-30%) HP:0000061
9 ambiguous genitalia54 Frequent (79-30%)
10 renal salt wasting64 54 Very frequent (99-80%) HP:0000127
11 abnormality of the menstrual cycle64 54 Very frequent (99-80%) HP:0000140
12 abnormality of the vagina54 Occasional (29-5%)
13 decreased fertility54 Very frequent (99-80%)
14 polycystic ovaries54 Frequent (79-30%)
15 gynecomastia64 54 Frequent (79-30%) HP:0000771
16 delayed puberty64 54 Very frequent (99-80%) HP:0000823
17 glucose intolerance64 54 Very frequent (99-80%) HP:0000833
18 adrenogenital syndrome64 54 Very frequent (99-80%) HP:0000840
19 decreased fertility in females64 54 Frequent (79-30%) HP:0000868
20 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
21 increased circulating renin level64 54 Very frequent (99-80%) HP:0000848
22 insulin resistance64 54 Frequent (79-30%) HP:0000855
23 primary adrenal insufficiency54 Very frequent (99-80%)
24 osteoporosis64 54 Very frequent (99-80%) HP:0000939
25 hirsutism64 54 Occasional (29-5%) HP:0001007
26 acne64 54 Occasional (29-5%) HP:0001061
27 acidosis64 54 Very frequent (99-80%) HP:0001941
28 dehydration64 54 Very frequent (99-80%) HP:0001944
29 abnormal glucose tolerance54 Very frequent (99-80%)
30 neonatal hypoglycemia64 54 Very frequent (99-80%) HP:0001998
31 vomiting64 54 Very frequent (99-80%) HP:0002013
32 hyperkalemia64 54 Very frequent (99-80%) HP:0002153
33 hypotension64 54 Very frequent (99-80%) HP:0002615
34 hyponatremia64 54 Very frequent (99-80%) HP:0002902
35 decreased circulating aldosterone level64 54 Very frequent (99-80%) HP:0004319
36 increased circulating acth level64 54 Very frequent (99-80%) HP:0003154
37 hypernatriuria64 54 Very frequent (99-80%) HP:0012605
38 reduced bone mineral density54 Very frequent (99-80%)
39 abnormal oral glucose tolerance64 54 Very frequent (99-80%) HP:0004924
40 accelerated skeletal maturation64 54 Very frequent (99-80%) HP:0005616
41 generalized hyperpigmentation64 54 Very frequent (99-80%) HP:0007440
42 decreased circulating cortisol level64 54 Very frequent (99-80%) HP:0008163
43 absence of secondary sex characteristics64 54 Frequent (79-30%) HP:0008187
44 androgen insufficiency64 54 Very frequent (99-80%) HP:0008226
45 elevated follicle stimulating hormone64 54 Very frequent (99-80%) HP:0008232
46 congenital adrenal hyperplasia64 54 Very frequent (99-80%) HP:0008258
47 enlarged polycystic ovaries64 54 Frequent (79-30%) HP:0008675
48 female external genitalia in individual with 46,xy karyotype64 54 Very frequent (99-80%) HP:0008730
49 decreased testicular size64 54 Frequent (79-30%) HP:0008734
50 hypovolemia64 54 Very frequent (99-80%) HP:0011106
51 ectopic adrenal gland64 54 Occasional (29-5%) HP:0011742
52 adrenocorticotropic hormone excess64 54 Very frequent (99-80%) HP:0011749
53 feeding difficulties64 54 Very frequent (99-80%) HP:0011968
54 elevated luteinizing hormone64 54 Very frequent (99-80%) HP:0011969
55 decreased fertility in males64 54 Frequent (79-30%) HP:0012041
56 abnormal sex determination64 54 Very frequent (99-80%) HP:0012244
57 premature adrenarche64 54 Very frequent (99-80%) HP:0012412
58 hyperpigmented genitalia64 54 Frequent (79-30%) HP:0030258
59 abnormality of the labia majora64 54 Occasional (29-5%) HP:0012881
60 urogenital sinus anomaly64 54 Very frequent (99-80%) HP:0100779
61 enlarged ovaries54 Frequent (79-30%)
62 adrenal hyperplasia64 HP:0008221
63 clitoral hypertrophy64 HP:0008665

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 INSinsertionPathogenic
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, 867GdeletionPathogenic
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