MCID: CRT020
MIFTS: 23

Cortisone Reductase Deficiency

Categories: Rare diseases, Endocrine diseases

Aliases & Classifications for Cortisone Reductase Deficiency

MalaCards integrated aliases for Cortisone Reductase Deficiency:

Name: Cortisone Reductase Deficiency 12 49 36 28 51 69
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 49
Hsd 11b1 Deficiency 49
Cortrd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090139
KEGG 36 H01111
UMLS 69 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 polycystic ovary syndrome. 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.

Related Diseases for Cortisone Reductase Deficiency

Diseases related to Cortisone Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperandrogenism due to cortisone reductase deficiency 32.7 H6PD HSD11B1
2 polycystic ovary syndrome 28.5 CYP21A2 H6PD HSD11B1
3 cortisone reductase deficiency 1 12.7
4 cortisone reductase deficiency 2 12.6
5 adrenal gland hyperfunction 9.9
6 pituitary-dependent cushing's disease 9.7 CYP21A2 HSD11B1
7 adrenal adenoma 9.5 CYP21A2 HSD11B1
8 body mass index quantitative trait locus 11 9.1 CYP21A2 H6PD HSD11B1

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



Diseases related to Cortisone Reductase Deficiency

Symptoms & Phenotypes for Cortisone Reductase Deficiency

Drugs & Therapeutics for Cortisone Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for Cortisone Reductase Deficiency

Genetic Tests for Cortisone Reductase Deficiency

Genetic tests related to Cortisone Reductase Deficiency:

# Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 28

Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

38
Ovary

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:

36
# 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
10.9 CYP21A2 HSD11B1
2
Show member pathways
10.44 CYP21A2 HSD11B1

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 GO:0005783 8.8 CYP21A2 H6PD HSD11B1

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 9.13 CYP21A2 H6PD HSD11B1
3 glucocorticoid biosynthetic process GO:0006704 8.62 CYP21A2 HSD11B1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.8 CYP21A2 H6PD HSD11B1

Sources for Cortisone Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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