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 ¹² ⁵⁴ ³⁸ ³⁰ ⁵⁶ ⁴⁵ ¹⁵ ⁷⁴

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of ⁵⁴

Hsd 11b1 Deficiency ⁵⁴

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

KEGG ³⁸ H01111

MeSH ⁴⁵ C536447

UMLS ⁷⁴ 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 hyperandrogenism due to cortisone reductase deficiency and cortisone reductase deficiency 2. 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 and pituitary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : ⁷⁷ 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 all 13)

#	Related Disease	Score	Top Affiliating Genes
1	hyperandrogenism due to cortisone reductase deficiency	33.6	HSD11B1 H6PD
2	cortisone reductase deficiency 2	12.9
3	cortisone reductase deficiency 1	12.9
4	hyperandrogenism	10.0	CYP21A2 HSD11B1
5	polycystic ovary syndrome	9.9
6	adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete	9.9	CYP21A2 NNT
7	adrenal adenoma	9.8	CYP21A2 HSD11B1
8	adrenal rest tumor	9.8	CYP21A2 NNT
9	cytochrome p450 oxidoreductase deficiency	9.7	CYP21A2 POR
10	antley-bixler syndrome	9.7	CYP21A2 POR
11	pituitary-dependent cushing's disease	9.7	NNT HSD11B1 CYP21A2
12	body mass index quantitative trait locus 11	9.5	CYP21A2 H6PD HSD11B1
13	lipoid congenital adrenal hyperplasia	9.4	CYP21A2 POR

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:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.28	CYP21A2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.28	CYP21A2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.28	POR
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.28	CYP21A2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.28	CYP21A2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.28	CYP21A2 POR
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.28	CYP21A2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-8	9.28	CYP21A2

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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 ³⁰

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Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

⁴²

Ovary, Pituitary

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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 )	Lawson AJ...Ride JP	2011
3	Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. ( 18628520 )	Lavery GG...Stewart PM	2008
4	Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. ( 16817821 )	Draper N...McCarthy MI	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 PC	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 PM	2003
7	Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. ( 11150889 )	Biason-Lauber A...Zachmann M	2000
8	Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. ( 10522997 )	Jamieson A...Connell JM	1999
9	Apparent cortisone reductase deficiency: a unique form of hypercortisolism. ( 8923828 )	Phillipov G...Shackleton CH	1996

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Genes for Cortisone Reductase Deficiency

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HSD11B1	Hydroxysteroid 11-Beta Dehydrogenase 1	Protein Coding	67.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	58.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	POR	Cytochrome P450 Oxidoreductase	Protein Coding	16.42	DISEASES inferred ¹⁵
5	NNT	Nicotinamide Nucleotide Transhydrogenase	Protein Coding	15.18	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:

³⁸

#	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 ⁶⁷ Show member pathways Metabolic pathways ³⁸ Metabolism of lipids and lipoproteins ⁶⁷	13.2	CYP21A2 H6PD HSD11B1 NNT POR
2	Metabolism of steroid hormones ⁶⁷ Show member pathways Androgen biosynthesis ⁶⁷ Estrogen biosynthesis ⁶⁷ Glucocorticoid andamp; Mineralcorticoid Metabolism ¹ glucocorticoid biosynthesis ¹ Glucocorticoid biosynthesis ⁶⁷ mineralocorticoid biosynthesis ¹ Mineralocorticoid biosynthesis ⁶⁷ Pregnenolone biosynthesis ⁶⁷	10.9	CYP21A2 HSD11B1
3	Steroid hormone biosynthesis ³⁸ Show member pathways allopregnanolone biosynthesis ¹	10.44	CYP21A2 HSD11B1

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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	endoplasmic reticulum membrane	GO:0005789	9.33	CYP21A2 HSD11B1 POR
2	intracellular membrane-bounded organelle	GO:0043231	9.13	CYP21A2 H6PD POR
3	endoplasmic reticulum	GO:0005783	8.92	CYP21A2 H6PD HSD11B1 POR

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

#	Name	GO ID	Score	Top Affiliating Genes
1	steroid metabolic process	GO:0008202	9.16	CYP21A2 HSD11B1
2	oxidation-reduction process	GO:0055114	9.02	CYP21A2 H6PD HSD11B1 NNT POR
3	glucocorticoid biosynthetic process	GO:0006704	8.96	CYP21A2 HSD11B1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	steroid binding	GO:0005496	9.16	CYP21A2 HSD11B1
2	NADP binding	GO:0050661	9.13	H6PD NNT POR
3	oxidoreductase activity	GO:0016491	9.02	CYP21A2 H6PD HSD11B1 NNT POR

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