MCID: 3BT003
MIFTS: 34

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 50 12
3-Beta-Hydroxysteroid Dehydrogenase Deficiency 46 24 25
Adrenal Hyperplasia 2 46 68 66
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 46 52
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 46 52
3b-Hydroxysteroid Dehydrogenase Deficiency 46 24
3-Beta-Hsd Deficiency 46 68
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 68
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 68
3-@beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency of 50
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 46
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 68
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency 24
 
3β-Hsd Deficiency Congenital Adrenal Hyperplasia 24
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 66
3β-Hydroxysteroid Dehydrogenase Deficiency 24
3 Beta-Ol Dehydrogenase Deficiency 24
Hydroxysteroid Dehydrogenase 3 12
Adrenal Hyperplasia Type Ii 68
Adrenal Hyperplasia Ii 46
3 Beta-Hsd Deficiency 24
3β-Hsd Deficiency 24
Hsd3b Deficiency 46
Ah-Ii 68
Ah2 68

Characteristics:

Orphanet epidemiological data:

52
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:

OMIM50 201810
Orphanet52 ORPHA90791
ICD10 via Orphanet29 E25.0
MedGen35 C0342471
MeSH37 D000312

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

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NIH Rare Diseases:46 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 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia and acth-independent macronodular adrenal hyperplasia 2, 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.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Wikipedia:69 3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3β-HSD CAH) is an... more...

Description from OMIM:50 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
13-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia12.4
2acth-independent macronodular adrenal hyperplasia 212.3
3pseudohermaphroditism, male, with gynecomastia11.8
4acth-independent macronodular adrenal hyperplasia11.1
5polycystic ovary syndrome10.2
6congenital adrenal hyperplasia10.2
7hyperandrogenism10.2
8pseudohermaphroditism10.1

Graphical network of diseases related to 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency:



Diseases related to 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency

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

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Clinical features from OMIM:

201810

Symptoms:

 52 (show all 61)
  • cryptorchidism
  • ambiguous genitalia, male
  • male pseudohermaphroditism
  • hypospadias
  • bifid scrotum
  • perineal hypospadias
  • clitoromegaly
  • ambiguous genitalia, female
  • ambiguous genitalia
  • renal salt wasting
  • abnormality of the menstrual cycle
  • abnormality of the vagina
  • decreased fertility
  • polycystic ovaries
  • gynecomastia
  • delayed puberty
  • glucose intolerance
  • adrenogenital syndrome
  • decreased fertility in females
  • delayed skeletal maturation
  • increased circulating renin level
  • insulin resistance
  • primary adrenal insufficiency
  • osteoporosis
  • hirsutism
  • acne
  • acidosis
  • dehydration
  • abnormal glucose tolerance
  • neonatal hypoglycemia
  • vomiting
  • hyperkalemia
  • hypotension
  • hyponatremia
  • decreased circulating aldosterone level
  • increased circulating acth level
  • hypernatriuria
  • reduced bone mineral density
  • abnormal oral glucose tolerance
  • accelerated skeletal maturation
  • generalized hyperpigmentation
  • decreased circulating cortisol level
  • absence of secondary sex characteristics
  • androgen insufficiency
  • elevated follicle stimulating hormone
  • congenital adrenal hyperplasia
  • enlarged polycystic ovaries
  • female external genitalia in individual with 46,xy karyotype
  • decreased testicular size
  • hypovolemia
  • ectopic adrenal gland
  • adrenocorticotropic hormone excess
  • feeding difficulties
  • elevated luteinizing hormone
  • decreased fertility in males
  • abnormal sex determination
  • premature adrenarche
  • hyperpigmented genitalia
  • abnormality of the labia majora
  • urogenital sinus anomaly
  • enlarged ovaries

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

id Description Frequency HPO Source Accession
1 male pseudohermaphroditism HP:0000037
2 hypospadias HP:0000047
3 adrenal hyperplasia 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 Deficiency25

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:

34
Adrenal gland, Ovary, Testes, Kidney, Bone

Animal Models for 3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency or affiliated genes

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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:

68 (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)single nucleotide variantPathogenicrs80358216GRCh37Chr 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)single nucleotide variantPathogenicrs28934880GRCh37Chr 1, 119958071: 119958071
5HSD3B2NM_001166120.1(HSD3B2): c.1119A> C (p.Ter373Cys)single nucleotide variantPathogenicrs80358218GRCh37Chr 1, 119965243: 119965243
6HSD3B2NM_001166120.1(HSD3B2): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs80358219GRCh37Chr 1, 119964548: 119964548
7HSD3B2NM_001166120.1(HSD3B2): c.664C> A (p.Pro222Thr)single nucleotide variantPathogenicrs80358220GRCh37Chr 1, 119964788: 119964788
8HSD3B2NM_001166120.1(HSD3B2): c.776C> T (p.Thr259Met)single nucleotide variantPathogenicrs80358221GRCh37Chr 1, 119964900: 119964900
9HSD3B2HSD3B2, 1-BP DEL, 867GdeletionPathogenic
10HSD3B2NM_001166120.1(HSD3B2): c.1022C> T (p.Pro341Leu)single nucleotide variantPathogenicrs121964897GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet