Cortisone Reductase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0090139

MeSH ⁴³ C536447

UMLS ⁷¹ C1291245

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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...

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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:

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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

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Drugs & Therapeutics for Cortisone Reductase Deficiency

Search Clinical Trials, NIH Clinical Center for Cortisone Reductase Deficiency

Cochrane evidence based reviews: cortisone reductase deficiency

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Genetic Tests for Cortisone Reductase Deficiency

Genetic tests related to Cortisone Reductase Deficiency:

#	Genetic test	Affiliating Genes
1	Cortisone Reductase Deficiency ²⁸

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Anatomical Context for Cortisone Reductase Deficiency

Organs/tissues related to Cortisone Reductase Deficiency:

MalaCards : Ovary, Pituitary, Bone

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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	Lavery GG...Stewart PM	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	Draper N...Stewart PM	12858176	2003
3	Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. ⁶² ⁵	Biason-Lauber A...Zachmann M	11150889	2000
4	Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. ⁶² ⁵	Jamieson A...Connell JM	10522997	1999
5	Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. ⁵³ ⁶²	Alcina A...Matesanz F	19935835	2010
6	Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolism. ⁵³ ⁶²	White PC...Lavery GG	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	Smit P...Lamberts SW	17062770	2007
8	Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome. ⁵³ ⁶²	Gambineri A...Walker BR	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	White PC	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	San Millan JL...Escobar-Morreale HF	15827106	2005
11	Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1. ⁵³ ⁶²	Bujalska IJ...Stewart PM	15956339	2005
12	11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. ⁵³ ⁶²	Tomlinson JW...Stewart PM	15466942	2004
13	Cortisol metabolism and the role of 11beta-hydroxysteroid dehydrogenase. ⁵³ ⁶²	Tomlinson JW...Stewart PM	11469811	2001
14	Alterations of Cortisol Metabolism in Human Disorders. ⁶²	White PC	29843121	2018
15	A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis. ⁶²	Zajkowska A...Bossowski A	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	Dhayat NA...Fluck CE	26297192	2015
17	Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. ⁶²	Malikova J...Fluck CE	25096886	2014
18	Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling. ⁶²	Lavery GG...Stewart PM	23132696	2013
19	Association study of CYP17 and HSD11B1 in polycystic ovary syndrome utilizing comprehensive gene coverage. ⁶²	Chua AK...Goodarzi MO	22238371	2012
20	Genetics of adrenocortical disease: an update. ⁶²	Bar-Lev A...Annes JP	22476103	2012
21	Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis. ⁶²	Shackleton CH	21874273	2012
22	Premature adrenarche: novel lessons from early onset androgen excess. ⁶²	Idkowiak J...Arlt W	21622478	2011
23	Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. ⁶²	Lawson AJ...Ride JP	21325058	2011
24	Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome. ⁶²	Qin K...Rosenfield RL	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	Krone N...Shackleton CH	20417277	2010
26	Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase. ⁶²	White PC...McMillan DR	18622204	2008
27	[11beta-hydroxysteroide dehydrogenases. Recent advances]. ⁶²	Vantyghem MC...Wemeau JL	17368420	2007
28	Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. ⁶²	Draper N...McCarthy MI	16817821	2006
29	11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. ⁶²	Draper N...Stewart PM	16079253	2005
30	11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy. ⁶²	Malunowicz EM...Bossowski A	12649576	2003
31	Apparent cortisone reductase deficiency: a unique form of hypercortisolism. ⁶²	Phillipov G...Shackleton CH	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	Nikkila H...White PC	8370690	1993

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Genes for Cortisone Reductase Deficiency

Genes related to Cortisone Reductase Deficiency (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	H6PD	Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase	Protein Coding	437.73	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10522997 11150889 12858176 (more) 18628520 15956339 17062770 16091483 17240046 15466942 15827106 19935835
2	HSD11B1	Hydroxysteroid 11-Beta Dehydrogenase 1	Protein Coding	47.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17062770 15466942 15827106 (more) 11469811 18628520 16551740
3	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	12.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
4	PAPSS2	3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2	Protein Coding	6.26	DISEASES inferred ¹⁴
5	POR	Cytochrome P450 Oxidoreductase	Protein Coding	6.09	DISEASES inferred ¹⁴
6	HSD11B2	Hydroxysteroid 11-Beta Dehydrogenase 2	Protein Coding	5.89	DISEASES inferred ¹⁴
7	DHRS7B	Dehydrogenase/Reductase 7B	Protein Coding	5.87	DISEASES inferred ¹⁴
8	POMC	Proopiomelanocortin	Protein Coding	5.63	DISEASES inferred ¹⁴
9	SULT2A1	Sulfotransferase Family 2A Member 1	Protein Coding	5.51	DISEASES inferred ¹⁴
10	PAPSS1	3'-Phosphoadenosine 5'-Phosphosulfate Synthase 1	Protein Coding	5.47	DISEASES inferred ¹⁴
11	CR1L	Complement C3b/C4b Receptor 1 Like	Protein Coding	5.4	DISEASES inferred ¹⁴
12	CYP11B1	Cytochrome P450 Family 11 Subfamily B Member 1	Protein Coding	5.39	DISEASES inferred ¹⁴
13	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	5.29	DISEASES inferred ¹⁴
14	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	5.18	DISEASES inferred ¹⁴

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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

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Expression for Cortisone Reductase Deficiency

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

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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	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.5	POMC PAPSS2 PAPSS1 CYP21A2 CYP17A1 CYP11B2
2	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.39	SULT2A1 POR POMC PAPSS2 PAPSS1 HSD11B2
3	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.53	POMC PAPSS2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
4	Oxidation by cytochrome P450 ⁷⁴ Show member pathways Amine Oxidase reactions ⁶⁶ Aryl hydrocarbon receptor signalling ⁶⁶ Atomoxetine Pathway, Pharmacokinetics ⁶⁰ Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB ⁶⁶ Celecoxib Pathway, Pharmacokinetics ⁶⁰ Cyclophosphamide Pathway, Pharmacokinetics ⁶⁰ CYP2E1 reactions ⁶⁶ Cytochrome P450 - arranged by substrate type ⁶⁶ Defective CYP24A1 causes HCAI ⁶⁶ Defective CYP26B1 causes RHFCA ⁶⁶ Defective CYP26C1 causes FFDD4 ⁶⁶ Defective CYP27A1 causes CTX ⁶⁶ Defective CYP27B1 causes VDDR1A ⁶⁶ Defective CYP27B1 causes VDDR1B ⁶⁶ Defective CYP4F22 causes ARCI5 ⁶⁶ Defective MAOA causes BRUNS ⁶⁶ Eicosanoids ⁶⁶ Endogenous sterols ⁶⁶ Ethanol oxidation ⁶⁶ Fatty acid omega-oxidation ⁷⁴ Fatty acids ⁶⁶ Fluvoxamine Pathway, Pharmacokinetics ⁶⁰ Lidocaine Pathway, Pharmacokinetics ⁶⁰ Miscellaneous substrates ⁶⁶ Phase I - Functionalization of compounds ⁶⁶ Prasugrel Pathway, Pharmacokinetics ⁶⁰ Sterols are 12-hydroxylated by CYP8B1 ⁶⁶ Vitamin D2 (ergocalciferol) metabolism ²² Vitamins ⁶⁶ Xenobiotics ⁶⁶	12.48	POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
5	Metapathway biotransformation Phase I and II ⁷⁴ Show member pathways Acetaminophen metabolism ²² Aflatoxin B1 metabolism ⁷⁴ Artemisinin and Derivatives Pathway, Pharmacokinetics ⁶⁰ Arylamine metabolism ⁷⁴ Benzo(a)pyrene metabolism ⁷⁴ Benzo[a]pyrene metabolism ²² Benzodiazepine Pathway, Pharmacokinetics ⁶⁰ Biological oxidations ⁶⁶ Cannabidiol Pathway, Pharmacokinetics ⁶⁰ Doxepin Pathway, Pharmacokinetics ⁶⁰ Estradiol metabolism ²² Flurbiprofen Pathway, Pharmacokinetics ⁶⁰ Haloperidol Pathway, Pharmacokinetics ⁶⁰ Methylation ⁶⁶ Naproxen Pathway, Pharmacokinetics ⁶⁰ Phase II - Conjugation of compounds ⁶⁶ Phenprocoumon Pathway, Pharmacokinetics ⁶⁰ Sorafenib Pharmacokinetics ⁶⁰ Tamoxifen Pathway, Pharmacokinetics ⁶⁰ Voriconazole Pathway, Pharmacokinetics ⁶⁰	12.45	SULT2A1 POR POMC PAPSS2 PAPSS1 CYP21A2
6	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	12.36	POMC HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2
7	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.69	SULT2A1 POMC CYP21A2 CYP11B1
8	Androstenedione and testosterone biosynthesis and metabolism p.1 ²² Show member pathways Estrogen biosynthesis ²² Estrone metabolism ²² Steroid biosynthesis ⁷⁴	11.39	SULT2A1 CYP17A1 CYP11B1
9	Cytosolic sulfonation of small molecules ⁶⁶ Show member pathways Defective SLC26A2 causes chondrodysplasias ⁶⁶ Sulfation biotransformation reaction ⁷⁴ Transport and synthesis of PAPS ⁶⁶	11.31	SULT2A1 PAPSS2 PAPSS1
10	Metabolic disorders of biological oxidation enzymes ⁶⁶	11.15	CYP11B1 CYP11B2 CYP17A1 CYP21A2
11	Metabolism of steroid hormones ⁶⁶ Show member pathways Androgen biosynthesis ⁶⁶ Defective CYP11A1 causes AICSR ⁶⁶ Defective CYP11B1 causes AH4 ⁶⁶ Defective CYP21A2 causes AH3 ⁶⁶ Electron transport from NADPH to Ferredoxin ⁶⁶ Estrogen biosynthesis ⁶⁶ Glucocorticoid and Mineralcorticoid Metabolism ⁷⁴ Glucocorticoid biosynthesis ⁶⁶ Mineralocorticoid biosynthesis ⁶⁶ Pregnenolone biosynthesis ⁶⁶	11.15	POMC HSD11B2 HSD11B1 CYP21A2 CYP17A1 CYP11B2
12	Alternative pathway of fetal androgen synthesis ⁷⁴	10.55	POR CYP17A1
13	Classical pathway of steroidogenesis with glucocorticoid and mineralocorticoid metabolism ⁷⁴ Show member pathways Defective CYP11B2 causes CMO-1 deficiency ⁶⁶ progesterone biosynthesis ⁶¹	10.4	POR CYP11B2

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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

Sources for Cortisone Reductase Deficiency

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CRT020 MIFTS: 37	Cortisone Reductase Deficiency Categories: Endocrine diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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