MCID: ADR048
MIFTS: 28

Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

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

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

MalaCards integrated aliases for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 57 75
3-Beta-Hsd Deficiency 57 75
Adrenal Hyperplasia 2 75 73
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 75
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 59
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 59
3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency 13
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 75
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 73
3-Beta-Hsd Deficiency; Hsdb 57
Adrenal Hyperplasia Type Ii 75
Adrenal Hyperplasia Ii 57
Ah-Ii 75
Hsdb 57
Ah2 75

Characteristics:

Orphanet epidemiological data:

59
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 201810
Orphanet 59 ORPHA90791
ICD10 via Orphanet 34 E25.0
MedGen 42 C0342471
MeSH 44 D000312

Summaries for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

OMIM : 57 Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992). (201810)

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency, also known as 3-beta-hsd deficiency, is related to acth-independent macronodular adrenal hyperplasia 2 and 3-beta-hydroxysteroid dehydrogenase deficiency. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency is HSD3B2 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 2). Affiliated tissues include testis, ovary and adrenal gland, and related phenotypes are male pseudohermaphroditism and hypospadias

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Diseases related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 2 12.4
2 3-beta-hydroxysteroid dehydrogenase deficiency 11.1

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
bifid scrotum
micropenis
absent scrotum
more
Endocrine Features:
premature pubarche
elevated baseline 17-hydroxypregnenolone levels
elevated acth-stimulated 17-hydroxypregnenolone levels
elevated acth-stimulated 17-hydroxypregnenolone to cortisol ratios
elevated dehydroepiandrosterone (dhea, in some patients)

Genitourinary External Genitalia Female:
ambiguous genitalia

Genitourinary Kidneys:
salt-wasting disorder (in some patients)


Clinical features from OMIM:

201810

Human phenotypes related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male pseudohermaphroditism 59 32 Very frequent (99-80%) HP:0000037
2 hypospadias 59 32 Very frequent (99-80%) HP:0000047
3 bifid scrotum 59 32 Frequent (79-30%) HP:0000048
4 ambiguous genitalia 59 32 Frequent (79-30%) HP:0000062
5 cryptorchidism 59 Very frequent (99-80%)
6 ambiguous genitalia, male 59 Very frequent (99-80%)
7 perineal hypospadias 59 Very frequent (99-80%)
8 clitoromegaly 59 Frequent (79-30%)
9 ambiguous genitalia, female 59 Frequent (79-30%)
10 renal salt wasting 59 Very frequent (99-80%)
11 abnormality of the menstrual cycle 59 Very frequent (99-80%)
12 abnormality of the vagina 59 Occasional (29-5%)
13 decreased fertility 59 Very frequent (99-80%)
14 polycystic ovaries 59 Frequent (79-30%)
15 gynecomastia 59 Frequent (79-30%)
16 delayed puberty 59 Very frequent (99-80%)
17 glucose intolerance 59 Very frequent (99-80%)
18 adrenogenital syndrome 59 Very frequent (99-80%)
19 decreased fertility in females 59 Frequent (79-30%)
20 delayed skeletal maturation 59 Very frequent (99-80%)
21 increased circulating renin level 59 Very frequent (99-80%)
22 insulin resistance 59 Frequent (79-30%)
23 primary adrenal insufficiency 59 Very frequent (99-80%)
24 osteoporosis 59 Very frequent (99-80%)
25 hirsutism 59 Occasional (29-5%)
26 acne 59 Occasional (29-5%)
27 acidosis 59 Very frequent (99-80%)
28 dehydration 59 Very frequent (99-80%)
29 abnormal glucose tolerance 59 Very frequent (99-80%)
30 neonatal hypoglycemia 59 Very frequent (99-80%)
31 vomiting 59 Very frequent (99-80%)
32 hyperkalemia 59 Very frequent (99-80%)
33 hypotension 59 Very frequent (99-80%)
34 hyponatremia 59 Very frequent (99-80%)
35 decreased circulating aldosterone level 59 Very frequent (99-80%)
36 increased circulating acth level 59 Very frequent (99-80%)
37 hypernatriuria 59 Very frequent (99-80%)
38 reduced bone mineral density 59 Very frequent (99-80%)
39 abnormal oral glucose tolerance 59 Very frequent (99-80%)
40 accelerated skeletal maturation 59 Very frequent (99-80%)
41 generalized hyperpigmentation 59 Very frequent (99-80%)
42 decreased circulating cortisol level 59 Very frequent (99-80%)
43 absence of secondary sex characteristics 59 Frequent (79-30%)
44 androgen insufficiency 59 Very frequent (99-80%)
45 elevated follicle stimulating hormone 59 Very frequent (99-80%)
46 congenital adrenal hyperplasia 59 Very frequent (99-80%)
47 enlarged polycystic ovaries 59 Frequent (79-30%)
48 female external genitalia in individual with 46,xy karyotype 59 Very frequent (99-80%)
49 decreased testicular size 59 Frequent (79-30%)
50 hypovolemia 59 Very frequent (99-80%)

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Search Clinical Trials , NIH Clinical Center for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

MalaCards organs/tissues related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

41
Testis, Ovary, Adrenal Gland, Bone

Publications for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Articles related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

# Title Authors Year
1
A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3-beta-hydroxysteroid dehydrogenase (3-beta- HSD) gene causing, respectively, nonclassic and classic 3-beta-HSD deficiency congenital adrenal hyperplasia. ( 12050213 )
2002

Variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

75 (show all 27)
# 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 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 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 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Pathways for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

GO Terms for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid...

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