MCID: CRT020
MIFTS: 37

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 53 37 29 55 44 15 73
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 53
Hsd 11b1 Deficiency 53
Cortrd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090139
MeSH 44 C536447
KEGG 37 H01111
UMLS 73 C1291245

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...

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:



Diseases related to Cortisone Reductase Deficiency

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

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:

41
Ovary, Pituitary, Cortex, Adrenal Gland, Adrenal Cortex

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 )
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 )
2008
4
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. ( 16817821 )
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 )
2005
6
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. ( 12858176 )
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 )
1996

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:

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
Show member pathways
13.81 CYP11A1 CYP17A1 CYP21A2 DECR1 H6PD HSD11B1
2
Show member pathways
12.44 CYP11A1 CYP17A1 CYP21A2 KCNJ5 POMC
3 12.2 CYP11A1 CYP17A1 HSD17B6 TXNRD2
4
Show member pathways
12.06 CYP11A1 CYP17A1 CYP21A2 PDE11A POMC
5 11.43 CYP11A1 CYP21A2 POMC SULT2A1
6
Show member pathways
11.38 CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD11B2 POMC
7 10.97 CYP11A1 HSD11B1 HSD11B2
8
Show member pathways
10.92 CYP11A1 CYP17A1 CYP21A2 HSD11B1 HSD11B2 HSD17B6
9
Show member pathways
10.78 CYP17A1 CYP21A2

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

Sources for Cortisone Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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