MCID: HYP625
MIFTS: 13

Hyperandrogenism Due to Cortisone Reductase Deficiency

Categories: Reproductive diseases, Endocrine diseases, Rare 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
Hydroxysteroid, 11-Beta, Dehydrogenase 1 13

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA168588
ICD10 via Orphanet 34 E25.8
UMLS via Orphanet 74 C1291245

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 10.1
2 depression 10.1
3 cortisone reductase deficiency 9.2 H6PD HSD11B1
4 body mass index quantitative trait locus 11 9.0 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....