AH2
MCID: ADR048
MIFTS: 38

Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (AH2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 56 73
3-Beta-Hsd Deficiency 56 73
Adrenal Hyperplasia 2 73 71
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 73
Congenital Adrenal Hyperplasia Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 58
Cah Due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 58
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency 73
3 Beta-Hydroxysteroid Dehydrogenase Deficiency 71
3-Beta-Hsd Deficiency; Hsdb 56
Adrenal Hyperplasia Type Ii 73
Adrenal Hyperplasia Ii 56
Ah-Ii 73
Hsdb 56
Ah2 73

Characteristics:

Orphanet epidemiological data:

58
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

OMIM : 56 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). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include testis, ovary and bone, and related phenotypes are hypotension and delayed skeletal maturation

UniProtKB/Swiss-Prot : 73 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:

(showing 7, show less)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 2 12.8
2 3-beta-hydroxysteroid dehydrogenase deficiency 11.4
3 acth-independent macronodular adrenal hyperplasia 11.4
4 hepatitis c virus 10.6
5 helix syndrome 10.5
6 lipoid congenital adrenal hyperplasia 10.0
7 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 9.8

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:



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

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

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

58 31 (showing 66, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
8 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
9 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
10 premature adrenarche 58 31 hallmark (90%) Very frequent (99-80%) HP:0012412
11 abnormality of the menstrual cycle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000140
12 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
13 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
14 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
15 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
16 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
17 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
18 perineal hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000051
19 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
20 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
21 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
22 acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001941
23 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
24 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
25 hypernatriuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012605
26 decreased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008163
27 elevated circulating follicle stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008232
28 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
29 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
30 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
31 elevated circulating luteinizing hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011969
32 abnormal sex determination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012244
33 abnormal oral glucose tolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0004924
34 adrenogenital syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000840
35 androgen insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008226
36 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
37 absence of secondary sex characteristics 58 31 frequent (33%) Frequent (79-30%) HP:0008187
38 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
39 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
40 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
41 enlarged polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0008675
42 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%) HP:0000868
43 decreased fertility in males 58 31 frequent (33%) Frequent (79-30%) HP:0012041
44 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
45 ambiguous genitalia, female 58 31 frequent (33%) Frequent (79-30%) HP:0000061
46 hyperpigmented genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0030258
47 clitoral hypertrophy 31 frequent (33%) HP:0008665
48 acne 58 31 occasional (7.5%) Occasional (29-5%) HP:0001061
49 hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001007
50 abnormality of the labia majora 58 31 occasional (7.5%) Occasional (29-5%) HP:0012881
51 ectopic adrenal gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0011742
52 hypospadias 58 31 Very frequent (99-80%) HP:0000047
53 ambiguous genitalia 58 31 Frequent (79-30%) HP:0000062
54 reduced bone mineral density 58 Very frequent (99-80%)
55 glucose intolerance 58 Very frequent (99-80%)
56 primary adrenal insufficiency 58 Very frequent (99-80%)
57 micropenis 31 HP:0000054
58 polycystic ovaries 58 Frequent (79-30%)
59 decreased fertility 58 Very frequent (99-80%)
60 premature pubarche 31 HP:0012411
61 abnormality of the vagina 58 Occasional (29-5%)
62 clitoromegaly 58 Frequent (79-30%)
63 adrenal hyperplasia 31 HP:0008221
64 enlarged ovaries 58 Frequent (79-30%)
65 abnormal glucose tolerance 58 Very frequent (99-80%)
66 absent scrotum 31 HP:0008707

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
hypospadias
micropenis
bifid scrotum
ambiguous genitalia
absent scrotum
more
Genitourinary External Genitalia Female:
ambiguous genitalia

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 Kidneys:
salt-wasting disorder (in some patients)

Clinical features from OMIM:

201810

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

Drugs for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 17, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Sympathomimetics
4 Epinephryl borate
5 Respiratory System Agents
6 Neurotransmitter Agents
7 Vasoconstrictor Agents
8 Anti-Asthmatic Agents
9 Hormone Antagonists
10 Adrenergic beta-Agonists
11 Adrenergic Agonists
12 Bronchodilator Agents
13 Autonomic Agents
14 Androgens
15 Mydriatics
16 Hormones
17 Adrenergic Agents

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
2 Natural History Study of Patients With Excess Androgen Enrolling by invitation NCT00250159

Search 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:

40
Testis, Ovary, Bone, Adrenal Gland, Pituitary

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

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

(showing 37, show less)
# Title Authors PMID Year
1
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 56 6
18252794 2008
2
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. 56 6
1363812 1992
3
3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in a girl with pubertal bone age. 56 6
295036 1979
4
The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. 56
14764797 2004
5
Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. 56
12050224 2002
6
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
7
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
8
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
9
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
10
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. 6
8284113 1993
11
The genes encoding gonadal and nongonadal forms of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase are closely linked on mouse chromosome 3. 56
8486361 1993
12
Mild adrenal 3 beta-hydroxysteroid dehydrogenase deficiency in children with accelerated growth, premature pubarche and/or hirsutism. 56
1309452 1992
13
Regional chromosomal assignment of human 3-beta-hydroxy-5-ene steroid dehydrogenase to 1p13.1 by non-isotopic in situ hybridisation. 56
2066113 1991
14
Assignment of the human 3 beta-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of chromosome 1. 56
2630193 1989
15
Male pseudohermaphroditism due to nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency: gender role change and absence of gynecomastia at puberty. 56
2826919 1987
16
A new inherited variant of the 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency syndrome: evidence for the existence of two isoenzymes. 56
3088022 1986
17
FOUR CLINICAL VARIANTS OF CONGENITAL ADRENAL HYPERPLASIA. 56
14160089 1964
18
The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. 56
13968789 1962
19
Adrenalectomy for non-neuroblastic pathology in children. 61
31691026 2020
20
Frequency and aetiology of hypercalcaemia. 61
26903499 2016
21
Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification. 61
25444050 2015
22
Quality of life evaluation in juveniles with disorders of sexual development. 61
23053598 2012
23
Screening for primary aldosteronism. 61
16980200 2006
24
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. 61
16551734 2006
25
Coenzyme Q10 evaluation in pituitary-adrenal axis disease: preliminary data. 61
16873946 2005
26
Newborn screening in the Philippines. 61
15906705 2003
27
[New approach in the surgical treatment of the urogenital sinus]. 61
12602002 2000
28
Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia. 61
8977749 1996
29
[Disorder of gender identity in a child with asymmetric gonadal dysgenesis with complex karyotype abnormality]. 61
7987465 1994
30
Renin gene polymorphism associated with aldosterone responsiveness to the renin-angiotensin system in patients with aldosterone-producing adenomas. 61
7915644 1994
31
Subtotal de-epithelialization and partial concealment of the glans clitoris: a modification to improve the cosmetic results of feminizing genitoplasty. 61
8326615 1993
32
Altering angiotensin levels by administration of captopril or indomethacin, or by angiotensin infusion, contributes to an understanding of atrial natriuretic peptide regulation in man. 61
2978745 1988
33
Congenital adrenal hyperplasia (2). 61
3295546 1987
34
Aldosterone-producing adenomas responsive to angiotensin pose problems in diagnosis. 61
2822305 1987
35
Adrenal scintigraphy in the morphological and functional evaluation of Cushing's syndrome. 61
2996768 1985
36
19-nor-deoxycorticosterone excretion in primary aldosteronism and low renin hypertension. 61
6337172 1983
37
[Mineralocorticoid syndromes and hypertension]. 61
964885 1976

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

ClinVar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency:

6 (showing 11, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSD3B2 NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)SNV Pathogenic 12184 rs80358216 1:119964636-119964636 1:119422013-119422013
2 HSD3B2 NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)duplication Pathogenic 12185 1:119964679-119964680 1:119422056-119422057
3 HSD3B2 NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn)indel Pathogenic 12186 rs121964896 1:119964866-119964867 1:119422243-119422244
4 HSD3B2 NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)SNV Pathogenic 12188 rs28934880 1:119958071-119958071 1:119415448-119415448
5 HSD3B2 NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)SNV Pathogenic 12189 rs80358218 1:119965243-119965243 1:119422620-119422620
6 HSD3B2 NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)SNV Pathogenic 12190 rs80358219 1:119964548-119964548 1:119421925-119421925
7 HSD3B2 NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)SNV Pathogenic 12191 rs80358220 1:119964788-119964788 1:119422165-119422165
8 HSD3B2 NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)SNV Pathogenic 12192 rs80358221 1:119964900-119964900 1:119422277-119422277
9 HSD3B2 NM_000198.4(HSD3B2):c.867del (p.Met290fs)deletion Pathogenic 12193 1:119964991-119964991 1:119422368-119422368
10 HSD3B2 NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)SNV Pathogenic 12194 rs121964897 1:119965146-119965146 1:119422523-119422523
11 HSD3B2 NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)SNV Likely pathogenic 517183 rs767128094 1:119965188-119965188 1:119422565-119422565

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

73 (showing 27, show less)
# 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 rs139900570
5 HSD3B2 p.Tyr254Asp VAR_000010 rs141102992
6 HSD3B2 p.Thr259Arg VAR_000011
7 HSD3B2 p.Ala10Glu VAR_010517 rs28934880
8 HSD3B2 p.Ala10Val VAR_010518 rs28934880
9 HSD3B2 p.Gly15Asp VAR_010519
10 HSD3B2 p.Ala82Thr VAR_010520 rs757033996
11 HSD3B2 p.Asn100Ser VAR_010521 rs138851794
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

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...

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

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