MCID: CRT020
MIFTS: 37

Cortisone Reductase Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Cortisone Reductase Deficiency

MalaCards integrated aliases for Cortisone Reductase Deficiency:

Name: Cortisone Reductase Deficiency 11 19 28 53 43 14 71 75
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 19 5
Hsd 11b1 Deficiency 19
Cortrd 11

Classifications:



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Disease Ontology 11 DOID:0090139
MeSH 43 C536447
UMLS 71 C1291245

Summaries for Cortisone Reductase Deficiency

GARD: 19 A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.

MalaCards based summary: Cortisone Reductase Deficiency, also known as 11-alpha beta-hydroxysteroid dehydrogenase type i deficiency of, is related to cortisone reductase deficiency 2 and hyperandrogenism due to cortisone reductase deficiency. An important gene associated with Cortisone Reductase Deficiency is H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase), and among its related pathways/superpathways are Disease and Metabolism. Affiliated tissues include ovary, pituitary and bone, and related phenotypes are muscle and renal/urinary system

Disease Ontology: 11 An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.

Wikipedia: 75 Cortisone reductase deficiency is caused by dysregulation of the 11β-hydroxysteroid dehydrogenase type 1... more...

Related Diseases for Cortisone Reductase Deficiency

Diseases related to Cortisone Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 2 33.0 POMC HSD11B1 DHRS7B
2 hyperandrogenism due to cortisone reductase deficiency 32.4 HSD11B1 H6PD
3 hyperandrogenism 29.8 POMC HSD11B1 CYP21A2 CYP17A1
4 acne 29.6 POMC CYP21A2 CYP17A1
5 polycystic ovary syndrome 29.5 SULT2A1 POMC HSD11B1 CYP21A2 CYP17A1
6 apparent mineralocorticoid excess 29.2 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
7 conn's syndrome 28.1 SULT2A1 POR POMC HSD11B2 HSD11B1 CYP21A2
8 lipoid congenital adrenal hyperplasia 27.8 SULT2A1 POR POMC HSD11B2 HSD11B1 CYP21A2
9 cortisone reductase deficiency 1 11.9
10 cloacal exstrophy 10.2 POR CYP21A2
11 polycystic ovary syndrome 1 10.2
12 acute adrenal insufficiency 10.2 POMC CYP21A2
13 intracranial hypertension, idiopathic 10.2 POMC HSD11B1
14 intracranial hypertension 10.2 POMC HSD11B1
15 corticosteroid-binding globulin deficiency 10.1 POMC HSD11B2
16 precocious puberty, male-limited 10.1 POMC CYP21A2
17 atelosteogenesis 10.1 PAPSS2 PAPSS1
18 adrenal cortical hypofunction 10.1 POMC CYP21A2
19 achondrogenesis, type ib 10.1 PAPSS2 PAPSS1
20 adrenal hypoplasia, congenital 10.1 POMC CYP21A2
21 persistent mullerian duct syndrome 10.1 POR CYP21A2
22 brachyolmia 10.1 PAPSS2 PAPSS1
23 postpartum depression 10.1 POMC HSD11B2
24 hypoaldosteronism 10.1 POMC CYP11B2
25 persistent fetal circulation syndrome 10.1 POMC HSD11B2
26 glycerol kinase deficiency 10.0 POR POMC
27 germinoma 10.0 POMC CYP21A2
28 alopecia, androgenetic, 1 10.0
29 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
30 androgenic alopecia 10.0
31 central precocious puberty 10.0
32 amenorrhea 10.0
33 teratoma 10.0
34 pituitary-dependent cushing's disease 10.0
35 alopecia 10.0
36 precocious puberty 10.0
37 adult syndrome 10.0 POMC HSD11B2
38 gender incongruence 10.0 CYP21A2 CYP17A1
39 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 9.9 CYP21A2 CYP17A1
40 androgen insensitivity, partial 9.9 POR CYP17A1
41 complete androgen insensitivity syndrome 9.8 POR CYP17A1
42 sebaceous gland disease 9.8 POMC CYP21A2 CYP17A1
43 acth-independent macronodular adrenal hyperplasia 9.8 POMC CYP11B2 CYP11B1
44 carney complex variant 9.7 POMC CYP11B2 CYP11B1
45 endocrine organ benign neoplasm 9.7 POMC CYP11B2 CYP11B1
46 cryptorchidism, unilateral or bilateral 9.7 POMC CYP21A2 CYP17A1
47 body mass index quantitative trait locus 11 9.7 POMC HSD11B2 HSD11B1 H6PD CYP21A2
48 46,xy sex reversal 2 9.7 CYP21A2 CYP17A1 CYP11B1
49 aromatase excess syndrome 9.7 POMC CYP17A1
50 mineral metabolism disease 9.6 POMC CYP17A1 CYP11B2

Graphical network of the top 20 diseases related to Cortisone Reductase Deficiency:



Diseases related to Cortisone Reductase Deficiency

Symptoms & Phenotypes for Cortisone Reductase Deficiency

MGI Mouse Phenotypes related to Cortisone Reductase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.87 CYP11B1 CYP11B2 DHRS7B H6PD HSD11B1 HSD11B2
2 renal/urinary system MP:0005367 9.85 CR1L CYP11B1 CYP11B2 HSD11B2 POMC POR
3 liver/biliary system MP:0005370 9.73 CYP11B1 CYP11B2 HSD11B1 PAPSS2 POMC POR
4 growth/size/body region MP:0005378 9.65 CR1L CYP11B1 CYP11B2 CYP17A1 CYP21A2 H6PD
5 adipose tissue MP:0005375 9.63 CYP11B1 CYP11B2 CYP17A1 H6PD HSD11B1 POMC
6 cardiovascular system MP:0005385 9.28 CR1L CYP11B1 CYP11B2 CYP17A1 H6PD HSD11B1

Drugs & Therapeutics for Cortisone Reductase Deficiency

Search Clinical Trials, NIH Clinical Center for Cortisone Reductase Deficiency

Cochrane evidence based reviews: cortisone reductase deficiency

Genetic Tests for Cortisone Reductase Deficiency

Genetic tests related to Cortisone Reductase Deficiency:

# Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 28

Anatomical Context for Cortisone Reductase Deficiency

Organs/tissues related to Cortisone Reductase Deficiency:

MalaCards : Ovary, Pituitary, Bone

Publications for Cortisone Reductase Deficiency

Articles related to Cortisone Reductase Deficiency:

(show all 32)
# Title Authors PMID Year
1
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. 53 62 5
18628520 2008
2
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. 53 62 5
12858176 2003
3
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. 62 5
11150889 2000
4
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. 62 5
10522997 1999
5
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. 53 62
19935835 2010
6
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism. 53 62
17240046 2007
7
Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. 53 62
17062770 2007
8
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome. 53 62
16551740 2006
9
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. 53 62
16091483 2005
10
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. 53 62
15827106 2005
11
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1. 53 62
15956339 2005
12
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. 53 62
15466942 2004
13
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase. 53 62
11469811 2001
14
Alterations of Cortisol Metabolism in Human Disorders. 62
29843121 2018
15
A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis. 62
29073307 2017
16
Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis. 62
26297192 2015
17
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. 62
25096886 2014
18
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling. 62
23132696 2013
19
Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage. 62
22238371 2012
20
Genetics of adrenocortical disease: an update. 62
22476103 2012
21
Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis. 62
21874273 2012
22
Premature adrenarche: novel lessons from early onset androgen excess. 62
21622478 2011
23
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 62
21325058 2011
24
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome. 62
21050867 2011
25
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). 62
20417277 2010
26
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase. 62
18622204 2008
27
[11beta-hydroxysteroide dehydrogenases. Recent advances]. 62
17368420 2007
28
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. 62
16817821 2006
29
11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. 62
16079253 2005
30
11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy. 62
12649576 2003
31
Apparent cortisone reductase deficiency: a unique form of hypercortisolism. 62
8923828 1996
32
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. 62
8370690 1993

Variations for Cortisone Reductase Deficiency

ClinVar genetic disease variations for Cortisone Reductase Deficiency:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 H6PD NM_004285.4(H6PD):c.960G>A (p.Val320=) SNV Pathogenic
31584 rs398122816 GRCh37: 1:9322332-9322332
GRCh38: 1:9262273-9262273
2 H6PD NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp) SNV Pathogenic
31585 rs387907167 GRCh37: 1:9323628-9323628
GRCh38: 1:9263569-9263569
3 H6PD NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter) SNV Pathogenic
31586 rs398122817 GRCh37: 1:9322320-9322320
GRCh38: 1:9262261-9262261
4 H6PD NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer) INSERT Pathogenic
16130 rs606231222 GRCh37: 1:9324412-9324413
GRCh38: 1:9264353-9264354
5 H6PD NM_004285.4(H6PD):c.325del (p.Arg109fs) DEL Pathogenic
31587 rs398122818 GRCh37: 1:9305317-9305317
GRCh38: 1:9245258-9245258
6 H6PD NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln) SNV Uncertain Significance
1030761 rs182877860 GRCh37: 1:9323661-9323661
GRCh38: 1:9263602-9263602
7 H6PD NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln) SNV Uncertain Significance
16131 rs6688832 GRCh37: 1:9323910-9323910
GRCh38: 1:9263851-9263851
8 H6PD NM_004285.4(H6PD):c.745+88T>A SNV Benign
191261 rs12032814 GRCh37: 1:9307230-9307230
GRCh38: 1:9247171-9247171

Expression for Cortisone Reductase Deficiency

Search GEO for disease gene expression data for Cortisone Reductase Deficiency.

Pathways for Cortisone Reductase Deficiency

Pathways related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 POMC PAPSS2 PAPSS1 CYP21A2 CYP17A1 CYP11B2
2
Show member pathways
13.39 SULT2A1 POR POMC PAPSS2 PAPSS1 HSD11B2
3
Show member pathways
12.53 POMC PAPSS2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
4
Show member pathways
12.48 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
5
Show member pathways
12.45 SULT2A1 POR POMC PAPSS2 PAPSS1 CYP21A2
6
Show member pathways
12.36 POMC HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2
7 11.69 SULT2A1 POMC CYP21A2 CYP11B1
8
Show member pathways
11.39 SULT2A1 CYP17A1 CYP11B1
9
Show member pathways
11.31 SULT2A1 PAPSS2 PAPSS1
10 11.15 CYP11B1 CYP11B2 CYP17A1 CYP21A2
11
Show member pathways
11.15 POMC HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2
12 10.55 POR CYP17A1
13
Show member pathways
10.4 POR CYP11B2

GO Terms for Cortisone Reductase Deficiency

Cellular components related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.81 POR HSD11B2 HSD11B1 H6PD CYP21A2 CYP17A1
2 endoplasmic reticulum GO:0005783 9.61 POR HSD11B2 HSD11B1 H6PD DHRS7B CYP21A2
3 endoplasmic reticulum membrane GO:0005789 9.44 POR HSD11B2 HSD11B1 DHRS7B CYP21A2 CYP17A1

Biological processes related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 10.06 SULT2A1 CYP11B2 CYP11B1
2 sterol metabolic process GO:0016125 9.93 CYP11B1 CYP11B2 CYP21A2
3 cellular response to potassium ion GO:0035865 9.88 CYP11B2 CYP11B1
4 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 9.87 PAPSS2 PAPSS1
5 lipid metabolic process GO:0006629 9.87 SULT2A1 HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2
6 C21-steroid hormone biosynthetic process GO:0006700 9.86 CYP11B2 CYP11B1
7 cellular response to peptide hormone stimulus GO:0071375 9.85 POR CYP11B2 CYP11B1
8 aldosterone biosynthetic process GO:0032342 9.84 CYP11B1 CYP11B2
9 cortisol biosynthetic process GO:0034651 9.83 CYP11B1 CYP11B2
10 mineralocorticoid biosynthetic process GO:0006705 9.81 CYP21A2 CYP11B2
11 regulation of blood volume by renal aldosterone GO:0002017 9.8 HSD11B2 CYP11B2
12 sulfate assimilation GO:0000103 9.78 PAPSS2 PAPSS1
13 metabolic process GO:0008152 9.77 PAPSS2 PAPSS1 H6PD
14 steroid biosynthetic process GO:0006694 9.73 CYP11B1 CYP11B2 CYP17A1 CYP21A2
15 cortisol metabolic process GO:0034650 9.63 HSD11B2 CYP11B2 CYP11B1
16 sulfur compound metabolic process GO:0006790 9.59 PAPSS2 PAPSS1
17 glucocorticoid biosynthetic process GO:0006704 9.56 CYP21A2 CYP17A1 CYP11B2 CYP11B1
18 purine ribonucleotide biosynthetic process GO:0009152 9.55 PAPSS1 PAPSS2
19 purine nucleoside bisphosphate biosynthetic process GO:0034033 9.43 PAPSS2 PAPSS1
20 ribonucleoside bisphosphate biosynthetic process GO:0034030 9.4 PAPSS2 PAPSS1
21 steroid metabolic process GO:0008202 9.36 SULT2A1 HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2

Molecular functions related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.1 CYP21A2 CYP17A1 CYP11B2 CYP11B1
2 iron ion binding GO:0005506 10.06 CYP21A2 CYP17A1 CYP11B2 CYP11B1
3 NADP binding GO:0050661 9.95 POR HSD11B1 H6PD
4 steroid binding GO:0005496 9.91 HSD11B2 HSD11B1 CYP21A2
5 adenylylsulfate kinase activity GO:0004020 9.71 PAPSS1 PAPSS2
6 steroid 11-beta-monooxygenase activity GO:0004507 9.67 CYP11B1 CYP11B2
7 sulfate adenylyltransferase (ATP) activity GO:0004781 9.62 PAPSS1 PAPSS2
8 corticosterone 18-monooxygenase activity GO:0047783 9.56 CYP11B1 CYP11B2
9 monooxygenase activity GO:0004497 9.46 CYP21A2 CYP17A1 CYP11B2 CYP11B1
10 oxidoreductase activity GO:0016491 9.4 POR HSD11B2 HSD11B1 H6PD DHRS7B CYP21A2
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP21A2 CYP17A1 CYP11B2 CYP11B1

Sources for Cortisone Reductase Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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