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 60
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1 60
Hydroxysteroid, 11-Beta, Dehydrogenase 1 13

Characteristics:

Orphanet epidemiological data:

60
hyperandrogenism due to cortisone reductase deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 35 E25.8
UMLS via Orphanet 75 C1291245
Orphanet 60 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 postpartum depression and depression. An important gene associated with Hyperandrogenism Due to Cortisone Reductase Deficiency is HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1).

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 postpartum depression 10.3
2 depression 10.3
3 cortisone reductase deficiency 9.6 H6PD HSD11B1
4 body mass index quantitative trait locus 11 9.5 H6PD HSD11B1

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

Publications for Hyperandrogenism Due to Cortisone Reductase Deficiency

Articles related to Hyperandrogenism Due to Cortisone Reductase Deficiency:

# Title Authors Year
1
Associations between a polymorphism in the hydroxysteroid (11-beta) dehydrogenase 1 gene, neuroticism and postpartum depression. ( 27721188 )
2017

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 H6PD HSD11B1

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 H6PD HSD11B1

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 H6PD HSD11B1

Sources for Hyperandrogenism Due to 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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