MCID: CRT020
MIFTS: 30

Cortisone Reductase Deficiency

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cortisone Reductase Deficiency

MalaCards integrated aliases for Cortisone Reductase Deficiency:

Name: Cortisone Reductase Deficiency 12 52 36 29 54 43 15 71
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 52
Hsd 11b1 Deficiency 52
Cortrd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090139
KEGG 36 H01111
MeSH 43 C536447
UMLS 71 C1291245

Summaries for Cortisone Reductase Deficiency

KEGG : 36 Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between CRD and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD.

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 HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1), and among its related pathways/superpathways are Pentose phosphate pathway and Steroid hormone biosynthesis. Affiliated tissues include ovary, pituitary and cortex.

Disease Ontology : 12 An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.

Wikipedia : 74 Cortisone reductase deficiency is caused by dysregulation of the 11?-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 all 44)
# Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 2 35.1 HSD11B1-AS1 HSD11B1
2 hyperandrogenism due to cortisone reductase deficiency 34.5 HSD11B1 H6PD
3 hyperandrogenism 30.3 POMC HSD11B1 CYP21A2
4 apparent mineralocorticoid excess 29.8 POMC HSD11B2 HSD11B1
5 lipoid congenital adrenal hyperplasia 29.8 POR POMC CYP21A2
6 cortisone reductase deficiency 1 13.1
7 polycystic ovary syndrome 10.2
8 acute adrenal insufficiency 10.2 POMC CYP21A2
9 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.1 POMC CYP21A2
10 adrenal rest tumor 10.1 POMC CYP21A2
11 laryngeal tuberculosis 10.1 POMC CYP21A2
12 adrenal cortical hypofunction 10.1 POMC CYP21A2
13 corticosteroid-binding globulin deficiency 10.1 POMC HSD11B2
14 sex development disorder 10.1 POMC CYP21A2
15 testicular leydig cell tumor 10.0 NNT CYP21A2
16 hyperaldosteronism, familial, type i 10.0 POMC HSD11B2
17 persistent fetal circulation syndrome 10.0 POMC HSD11B2
18 cytochrome p450 oxidoreductase deficiency 10.0 POR POMC CYP21A2
19 sebaceous gland disease 10.0 POMC CYP21A2
20 adult syndrome 9.9 POMC HSD11B2
21 antley-bixler syndrome 9.9 POR POMC CYP21A2
22 neurofibromatosis, type ii 9.9
23 alopecia, androgenetic, 1 9.9
24 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
25 androgenic alopecia 9.9
26 amenorrhea 9.9
27 teratoma 9.9
28 alopecia 9.9
29 precocious puberty 9.9
30 central precocious puberty 9.9
31 adenoma 9.9 POMC HSD11B2 CYP21A2
32 adrenal cortical carcinoma 9.9 POMC HSD11B2 CYP21A2
33 familial glucocorticoid deficiency 9.9 POMC NNT
34 adrenal cortical adenoma 9.8 POMC CYP21A2
35 adrenal cortex disease 9.7 POMC HSD11B2 HSD11B1 CYP21A2
36 adrenal gland disease 9.7 POMC HSD11B2 HSD11B1 CYP21A2
37 adrenal adenoma 9.7 POMC HSD11B2 HSD11B1 CYP21A2
38 achalasia-addisonianism-alacrima syndrome 9.7 POMC NNT CYP21A2
39 conn's syndrome 9.7 POMC HSD11B2 HSD11B1 CYP21A2
40 steroid inherited metabolic disorder 9.7 POR POMC HSD11B2 CYP21A2
41 hypoadrenocorticism, familial 9.7 POMC CYP21A2
42 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.5 POR POMC NNT CYP21A2
43 body mass index quantitative trait locus 11 9.4 POMC HSD11B2 HSD11B1 H6PD CYP21A2
44 diabetes mellitus, noninsulin-dependent 9.2 POMC HSD11B2 HSD11B1 H6PD CYP21A2

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



Diseases related to Cortisone Reductase Deficiency

Symptoms & Phenotypes for Cortisone Reductase Deficiency

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 29

Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

40
Ovary, Pituitary, Cortex, Adrenal Gland, Adrenal Cortex

Publications for Cortisone Reductase Deficiency

Articles related to Cortisone Reductase Deficiency:

(show all 32)
# Title Authors PMID Year
1
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. 54 61
19935835 2010
2
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. 54 61
18628520 2008
3
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism. 54 61
17240046 2007
4
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. 54 61
17062770 2007
5
Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome. 54 61
16551740 2006
6
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. 54 61
16091483 2005
7
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. 54 61
15827106 2005
8
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1. 54 61
15956339 2005
9
11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. 54 61
15466942 2004
10
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. 54 61
12858176 2003
11
Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase. 54 61
11469811 2001
12
Alterations of Cortisol Metabolism in Human Disorders. 61
29843121 2018
13
A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis. 61
29073307 2017
14
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. 61
26297192 2015
15
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. 61
25096886 2014
16
Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling. 61
23132696 2013
17
Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage. 61
22238371 2012
18
Genetics of adrenocortical disease: an update. 61
22476103 2012
19
Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis. 61
21874273 2012
20
Premature adrenarche: novel lessons from early onset androgen excess. 61
21622478 2011
21
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 61
21325058 2011
22
Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome. 61
21050867 2011
23
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). 61
20417277 2010
24
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase. 61
18622204 2008
25
[11beta-hydroxysteroide dehydrogenases. Recent advances]. 61
17368420 2007
26
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. 61
16817821 2006
27
11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. 61
16079253 2005
28
11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy. 61
12649576 2003
29
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. 61
11150889 2000
30
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. 61
10522997 1999
31
Apparent cortisone reductase deficiency: a unique form of hypercortisolism. 61
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. 61
8370690 1993

Variations for Cortisone Reductase Deficiency

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 KEGG:

36
# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030
2 Steroid hormone biosynthesis hsa00140
3 Metabolism of xenobiotics by cytochrome P450 hsa00980

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 9.35 POR HSD17B6 HSD11B2 H6PD CYP21A2
2 endoplasmic reticulum GO:0005783 9.1 POR HSD17B6 HSD11B2 HSD11B1 H6PD CYP21A2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.5 POR NNT HSD17B6 HSD11B2 HSD11B1 H6PD
2 steroid metabolic process GO:0008202 9.33 HSD17B6 HSD11B1 CYP21A2
3 glucocorticoid biosynthetic process GO:0006704 8.8 HSD11B2 HSD11B1 CYP21A2

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

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.43 POR NNT H6PD
2 NAD binding GO:0051287 9.32 NNT HSD11B2
3 oxidoreductase activity GO:0016491 9.17 POR NNT HSD17B6 HSD11B2 HSD11B1 H6PD
4 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity GO:0003845 9.16 HSD11B2 HSD11B1
5 steroid binding GO:0005496 9.13 HSD11B2 HSD11B1 CYP21A2

Sources for Cortisone Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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