MCID: HYP625
MIFTS: 13

Hyperandrogenism Due to Cortisone Reductase Deficiency

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hyperandrogenism Due to Cortisone Reductase Deficiency

MalaCards integrated aliases for Hyperandrogenism Due to Cortisone Reductase Deficiency:

Name: Hyperandrogenism Due to Cortisone Reductase Deficiency 59
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1 59

Characteristics:

Orphanet epidemiological data:

59
hyperandrogenism due to cortisone reductase deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 34 E25.8
UMLS via Orphanet 73 C1291245
Orphanet 59 ORPHA168588

Summaries for Hyperandrogenism Due to Cortisone Reductase Deficiency

MalaCards based summary : Hyperandrogenism Due to Cortisone Reductase Deficiency, also known as 11-beta-hydroxysteroid dehydrogenase deficiency type 1, is related to cortisone reductase deficiency and body mass index quantitative trait locus 11. An important gene associated with Hyperandrogenism Due to Cortisone Reductase Deficiency is H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase). Affiliated tissues include ovary.

Related Diseases for Hyperandrogenism Due to Cortisone Reductase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 9.4 HSD11B1 H6PD
2 body mass index quantitative trait locus 11 9.2 HSD11B1 H6PD

Symptoms & Phenotypes for Hyperandrogenism Due to Cortisone Reductase Deficiency

Drugs & Therapeutics for Hyperandrogenism Due to Cortisone Reductase Deficiency

Search Clinical Trials , NIH Clinical Center for Hyperandrogenism Due to Cortisone Reductase Deficiency

Genetic Tests for Hyperandrogenism Due to Cortisone Reductase Deficiency

Anatomical Context for Hyperandrogenism Due to Cortisone Reductase Deficiency

MalaCards organs/tissues related to Hyperandrogenism Due to Cortisone Reductase Deficiency:

41
Ovary

Publications for Hyperandrogenism Due to Cortisone Reductase Deficiency

Articles related to Hyperandrogenism Due to Cortisone Reductase Deficiency:

# Title Authors PMID Year
1
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 71
21325058 2011
2
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. 71
18628520 2008
3
Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. 71
17062770 2007
4
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. 71
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. 71
16091483 2005
6
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. 71
15827106 2005
7
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. 71
12858176 2003
8
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. 71
11150889 2000
9
Apparent cortisone reductase deficiency: a functional defect in 11beta-hydroxysteroid dehydrogenase type 1. 71
10522997 1999

Variations for Hyperandrogenism Due to Cortisone Reductase Deficiency

Expression for Hyperandrogenism Due to Cortisone Reductase Deficiency

Search GEO for disease gene expression data for Hyperandrogenism Due to Cortisone Reductase Deficiency.

Pathways for Hyperandrogenism Due to Cortisone Reductase Deficiency

GO Terms for Hyperandrogenism Due to Cortisone Reductase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 HSD11B1 H6PD

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 HSD11B1 H6PD

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 HSD11B1 H6PD

Sources for Hyperandrogenism Due to Cortisone Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....