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 50 29 52 69
11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency of 50
Hsd 11b1 Deficiency 50
Cortrd 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0090139

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 1 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 Metabolism of steroid hormones and Steroid hormone biosynthesis. Affiliated tissues include ovary and pituitary.

Wikipedia : 72 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

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:

id Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 29

Anatomical Context for Cortisone Reductase Deficiency

MalaCards organs/tissues related to Cortisone Reductase Deficiency:

39
Ovary, Pituitary

Publications for Cortisone Reductase Deficiency

Articles related to Cortisone Reductase Deficiency:

id Title Authors Year
1
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. ( 21325058 )
2011
2
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. ( 18628520 )
2008
3
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. ( 16817821 )
2006
4
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
5
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. ( 12858176 )
2003
6
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. ( 11150889 )
2000
7
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. ( 10522997 )
1999
8
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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.9 CYP21A2 HSD11B1
2
Show member pathways
10.43 CYP21A2 HSD11B1

GO Terms for Cortisone Reductase Deficiency

Cellular components related to Cortisone Reductase Deficiency according to GeneCards Suite gene sharing:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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