MCID: CRT020
MIFTS: 28

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 54 38 30 56 45 15 74
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 54
Hsd 11b1 Deficiency 54
Cortrd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090139
KEGG 38 H01111
MeSH 45 C536447
UMLS 74 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 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...

Related Diseases for Cortisone Reductase Deficiency

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:

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

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 30

Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

42
Ovary, Pituitary

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:

38
# 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 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

Sources for Cortisone Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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