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

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 ¹² ⁵³ ³⁷ ²⁹ ⁵⁵ ⁴⁴ ¹⁵ ⁷³

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of ⁵³

Hsd 11b1 Deficiency ⁵³

Cortrd ¹²

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0090139

MeSH ⁴⁴ C536447

KEGG ³⁷ H01111

UMLS ⁷³ C1291245

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Summaries for Cortisone Reductase Deficiency

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

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, and related phenotypes are Increased transferrin (TF) endocytosis and behavior/neurological

Wikipedia : ⁷⁶ 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 53)

#	Related Disease	Score	Top Affiliating Genes
1	cortisone reductase deficiency 2	34.6	HSD11B1 HSD11B1-AS1
2	hyperandrogenism due to cortisone reductase deficiency	34.0	H6PD HSD11B1
3	polycystic ovary syndrome	29.9	CYP11A1 CYP17A1 CYP21A2
4	cortisone reductase deficiency 1	12.8
5	aldosterone-producing adenoma	10.2	CYP21A2 KCNJ5
6	classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	10.2	CYP21A2 POMC
7	adrenal rest tumor	10.1	CYP21A2 NNT POMC
8	pontocerebellar hypoplasia, type 2d	10.1	NNT TXNRD2
9	transsexualism	10.1	CYP17A1 CYP21A2
10	arthrogryposis, distal, type 3	10.1	NR3C2 REN
11	leydig cell tumor	10.1	CYP11A1 CYP17A1 CYP21A2
12	hypoadrenocorticism, familial	10.1	CYP11A1 CYP21A2 POMC
13	pituitary-dependent cushing's disease	10.1	CYP21A2 HSD11B1 NNT POMC
14	hypoaldosteronism	10.1	POMC REN
15	pseudohypoaldosteronism, type i, autosomal dominant	10.1	NR3C2 REN
16	autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	10.1	CYP11A1 CYP17A1 CYP21A2
17	anuria	10.1	HSD11B2 NR3C2 REN
18	cytochrome p450 oxidoreductase deficiency	10.0	CYP17A1 CYP21A2 POMC
19	adenoma	10.0	CYP21A2 HSD11B2 KCNJ5 POMC
20	pseudohyperkalemia, familial, 2, due to red cell leak	10.0	CYP21A2 NR3C2 REN
21	familial hypertension	10.0	HSD11B2 NR3C2 REN
22	inappropriate adh syndrome	10.0	POMC REN
23	ovarian serous adenofibroma	10.0	NR3C1 POMC
24	hyperandrogenism	10.0	CYP17A1 CYP21A2 HSD11B1 POMC
25	corticosteroid-binding globulin deficiency	10.0	HSD11B2 NR3C1 POMC
26	endocrine organ benign neoplasm	10.0	KCNJ5 POMC REN
27	nelson syndrome	10.0	NR3C1 POMC
28	cell type benign neoplasm	10.0	KCNJ5 POMC REN
29	primary pigmented nodular adrenocortical disease	10.0	NR3C1 PDE11A POMC
30	achalasia-addisonianism-alacrima syndrome	9.9	NNT POMC
31	acute adrenal insufficiency	9.9	CYP11A1 CYP21A2 POMC REN
32	adrenal cortical hypofunction	9.9	CYP11A1 CYP21A2 POMC REN
33	sex differentiation disease	9.9	CYP17A1 CYP21A2 POMC SULT2A1
34	familial glucocorticoid deficiency	9.9	NNT POMC REN TXNRD2
35	acth-secreting pituitary adenoma	9.9	NR3C1 POMC
36	liddle syndrome 1	9.8	HSD11B2 NR3C1 NR3C2 REN
37	ovarian disease	9.8	CYP11A1 REN SULT2A1
38	adrenal cortical adenoma	9.8	CYP11A1 CYP17A1 CYP21A2 POMC SULT2A1
39	apparent mineralocorticoid excess	9.8	HSD11B1 HSD11B2 NR3C1 NR3C2 REN
40	testicular leydig cell tumor	9.7	POMC HSD17B6 CYP21A2 CYP17A1 CYP11A1
41	adrenal carcinoma	9.7	CYP11A1 CYP17A1 CYP21A2 POMC REN
42	lipoid congenital adrenal hyperplasia	9.7	CYP11A1 CYP17A1 CYP21A2 POMC REN
43	hyperaldosteronism, familial, type i	9.7	HSD11B2 NR3C1 NR3C2 POMC REN
44	adrenocortical carcinoma, hereditary	9.7	CYP11A1 CYP17A1 CYP21A2 HSD11B2 POMC SULT2A1
45	hypokalemia	9.7	HSD11B2 NR3C1 NR3C2 POMC REN
46	hypertension, essential	9.7	HSD11B2 NR3C1 NR3C2 POMC REN
47	steroid inherited metabolic disorder	9.7	CYP11A1 CYP17A1 CYP21A2 HSD11B2 POMC REN
48	body mass index quantitative trait locus 11	9.7	CYP21A2 H6PD HSD11B1 HSD11B2 NR3C1 NR3C2
49	adrenal adenoma	9.6	CYP11A1 CYP17A1 CYP21A2 HSD11B1 KCNJ5 POMC
50	adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	9.5	POMC NNT DECR1 CYP21A2 CYP17A1 CYP11A1

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

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Symptoms & Phenotypes for Cortisone Reductase Deficiency

GenomeRNAi Phenotypes related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased transferrin (TF) endocytosis	GR00363-A	9.36	CYP11A1 CYP21A2 DECR1 H6PD HSD11B1 HSD17B6

MGI Mouse Phenotypes related to Cortisone Reductase Deficiency:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.03	CYP11A1 CYP17A1 DECR1 HSD11B1 HSD11B2 KIF1B
2	cardiovascular system	MP:0005385	9.85	CYP11A1 HSD11B1 HSD11B2 KCNJ5 KIF1B NR3C1
3	homeostasis/metabolism	MP:0005376	9.73	CYP11A1 CYP17A1 DECR1 H6PD HSD11B1 HSD11B2
4	muscle	MP:0005369	9.28	CYP11A1 H6PD HSD11B1 HSD11B2 KIF1B NR3C1

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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 ²⁹

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Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

⁴¹

Ovary, Pituitary, Cortex, Adrenal Gland, Adrenal Cortex

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Publications for Cortisone Reductase Deficiency

Articles related to Cortisone Reductase Deficiency:

#	Title	Authors	Year
1	A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis. ( 29073307 )	Zajkowska A....Bossowski A.	2017
2	Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. ( 21325058 )		2011
3	Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. ( 18628520 )	Lavery G.G....Stewart P.M.	2008
4	Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. ( 16817821 )	Draper N....McCarthy M.I.	2006
5	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. ( 16091483 )	White P.C.	2005
6	Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. ( 12858176 )	Draper N....Stewart P.M.	2003
7	Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. ( 11150889 )		2000
8	Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. ( 10522997 )		1999
9	Apparent cortisone reductase deficiency: a unique form of hypercortisolism. ( 8923828 )	Phillipov G....Shackleton C.H.	1996

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Genes for Cortisone Reductase Deficiency

Genes related to Cortisone Reductase Deficiency (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HSD11B1	Hydroxysteroid 11-Beta Dehydrogenase 1	Protein Coding	67.52	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17062770 15466942 15827106 (more) 11469811 18628520 16551740
2	H6PD	Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase	Protein Coding	58.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	15956339 17062770 16091483 (more) 17240046 12858176 15466942 15827106 19935835 18628520
3	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	17.15	GeneCards inferred via : Publications (show sections)
4	HSD11B2	Hydroxysteroid 11-Beta Dehydrogenase 2	Protein Coding	16.07	DISEASES inferred ¹⁵
5	PDE11A	Phosphodiesterase 11A	Protein Coding	15.19	DISEASES inferred ¹⁵
6	MCM4	Minichromosome Maintenance Complex Component 4	Protein Coding	14.94	DISEASES inferred ¹⁵
7	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	14.74	DISEASES inferred ¹⁵
8	KIF1B	Kinesin Family Member 1B	Protein Coding	14.58	DISEASES inferred ¹⁵
9	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	14.48	DISEASES inferred ¹⁵
10	KCNJ5	Potassium Voltage-Gated Channel Subfamily J Member 5	Protein Coding	14.42	DISEASES inferred ¹⁵
11	TXNRD2	Thioredoxin Reductase 2	Protein Coding	14.31	DISEASES inferred ¹⁵
12	CYP11A1	Cytochrome P450 Family 11 Subfamily A Member 1	Protein Coding	14.11	DISEASES inferred ¹⁵
13	POMC	Proopiomelanocortin	Protein Coding	13.94	DISEASES inferred ¹⁵
14	SULT2A1	Sulfotransferase Family 2A Member 1	Protein Coding	13.47	DISEASES inferred ¹⁵
15	CYP17A1	Cytochrome P450 Family 17 Subfamily A Member 1	Protein Coding	13.45	DISEASES inferred ¹⁵
16	REN	Renin	Protein Coding	13.35	DISEASES inferred ¹⁵
17	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	13.14	DISEASES inferred ¹⁵
18	HSD11B1-AS1	HSD11B1 Antisense RNA 1	RNA Gene	8.15	GeneCards inferred via : Variants (show sections)
19	DECR1	2,4-Dienoyl-CoA Reductase 1	Protein Coding	5.69	DISEASES inferred ¹⁵
20	HSD17B6	Hydroxysteroid 17-Beta Dehydrogenase 6	Protein Coding	4.2	DISEASES inferred ¹⁵

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Variations for Cortisone Reductase Deficiency

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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 KEGG:

³⁷

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.81	CYP11A1 CYP17A1 CYP21A2 DECR1 H6PD HSD11B1
2	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Insulin secretion ³⁷ Thyroid hormone synthesis ³⁷	12.44	CYP11A1 CYP17A1 CYP21A2 KCNJ5 POMC
3	Glucose / Energy Metabolism ⁴	12.2	CYP11A1 CYP17A1 HSD17B6 TXNRD2
4	Cushing syndrome ³⁷ Show member pathways Melanogenesis ³⁷	12.06	CYP11A1 CYP17A1 CYP21A2 PDE11A POMC
5	Corticotropin-releasing hormone signaling pathway ¹	11.43	CYP11A1 CYP21A2 POMC SULT2A1
6	Metabolism of steroid hormones ⁶⁶ Show member pathways Androgen biosynthesis ⁶⁶ Estrogen biosynthesis ⁶⁶ Glucocorticoid andamp; Mineralcorticoid Metabolism ¹ glucocorticoid biosynthesis ¹ Glucocorticoid biosynthesis ⁶⁶ mineralocorticoid biosynthesis ¹ Mineralocorticoid biosynthesis ⁶⁶ Pregnenolone biosynthesis ⁶⁶	11.38	CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD11B2 POMC
7	Prostaglandin Synthesis and Regulation ¹	10.97	CYP11A1 HSD11B1 HSD11B2
8	Steroid hormone biosynthesis ³⁷ Show member pathways allopregnanolone biosynthesis ¹	10.92	CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD11B2 HSD17B6
9	superpathway of steroid hormone biosynthesis ¹ Show member pathways androgen biosynthesis ¹ estradiol biosynthesis I ¹	10.78	CYP17A1 CYP21A2

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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	mitochondrion	GO:0005739	9.5	CYP11A1 DECR1 H6PD KIF1B NNT NR3C1
2	mitochondrial matrix	GO:0005759	9.46	CYP11A1 DECR1 NR3C1 TXNRD2
3	endoplasmic reticulum	GO:0005783	9.17	CYP17A1 CYP21A2 H6PD HSD11B1 HSD11B2 HSD17B6

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

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.8	CYP11A1 DECR1 HSD11B1 HSD17B6 SULT2A1
2	oxidation-reduction process	GO:0055114	9.65	CYP11A1 CYP17A1 CYP21A2 DECR1 H6PD HSD11B1
3	steroid metabolic process	GO:0008202	9.63	CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD17B6 SULT2A1
4	steroid biosynthetic process	GO:0006694	9.5	CYP11A1 CYP17A1 CYP21A2
5	sterol metabolic process	GO:0016125	9.43	CYP11A1 CYP17A1 CYP21A2
6	androgen biosynthetic process	GO:0006702	9.37	CYP17A1 HSD17B6
7	glucocorticoid biosynthetic process	GO:0006704	9.02	CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD11B2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.54	CYP11A1 CYP17A1 CYP21A2
2	iron ion binding	GO:0005506	9.5	CYP11A1 CYP17A1 CYP21A2
3	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	9.43	CYP11A1 CYP17A1 CYP21A2
4	steroid binding	GO:0005496	9.35	CYP21A2 HSD11B1 HSD11B2 NR3C1 NR3C2
5	oxidoreductase activity	GO:0016491	9.32	CYP11A1 CYP17A1 CYP21A2 DECR1 H6PD HSD11B1
6	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	GO:0003845	9.16	HSD11B1 HSD11B2

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