MCID: CRT065
MIFTS: 27

Cortisone Reductase Deficiency 1

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Cortisone Reductase Deficiency 1

MalaCards integrated aliases for Cortisone Reductase Deficiency 1:

Name: Cortisone Reductase Deficiency 1 53 12 28 13 69
Cortisone Reductase Deficiency 71 69
Cortrd1 53 12
Crd 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cortisone reductase deficiency 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cortisone Reductase Deficiency 1

OMIM : 53 Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lavery et al., 2008). (604931)

MalaCards based summary : Cortisone Reductase Deficiency 1, also known as cortisone reductase deficiency, is related to cone-rod dystrophy 2 and chylomicron retention disease, and has symptoms including obesity, acne and infertility. An important gene associated with Cortisone Reductase Deficiency 1 is H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase). Affiliated tissues include ovary.

Disease Ontology : 12 A cortisone reductase deficiency that has material basis in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36.

UniProtKB/Swiss-Prot : 71 Cortisone reductase deficiency: In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS).

Related Diseases for Cortisone Reductase Deficiency 1

Diseases related to Cortisone Reductase Deficiency 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 12.0
2 chylomicron retention disease 11.8
3 cortisone reductase deficiency 2 11.1
4 spondylometaphyseal dysplasia with cone-rod dystrophy 11.0
5 goiter, multinodular, cystic renal disease, and digital anomalies 10.9
6 refsum disease, classic 10.9
7 daneman davy mancer syndrome 10.9
8 popliteal pterygium syndrome, lethal type 10.4
9 microphthalmia 10.0
10 melanoma 10.0
11 blood group, i system 9.8
12 basal cell carcinoma 1 9.8
13 allergic rhinitis 9.8
14 leukemia 9.8
15 basal cell carcinoma 9.8
16 rhinitis 9.8
17 hypoxia 9.8

Graphical network of the top 20 diseases related to Cortisone Reductase Deficiency 1:



Diseases related to Cortisone Reductase Deficiency 1

Symptoms & Phenotypes for Cortisone Reductase Deficiency 1

Symptoms via clinical synopsis from OMIM:

53
Growth Weight:
obesity
central fat distribution

Genitourinary Internal Genitalia Female:
oligomenorrhea
infertility

Skin Nails Hair Hair:
hirsutism
androgenic alopecia (in some patients)

Genitourinary External Genitalia Male:
precocious puberty, gonadotropin-independent

Skin Nails Hair Skin:
acne

Endocrine Features:
hyperandrogenism
delayed conversion of oral cortisone acetate to plasma cortisol
low tetrahydrocortisol (thf) plus 5-alpha-thf/tetrahydrocortisone (the) ratio
low urinary cortols-to-cortolone ratio
low to normal level of cortisol metabolites
more

Clinical features from OMIM:

604931

Human phenotypes related to Cortisone Reductase Deficiency 1:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 acne 31 HP:0001061
3 infertility 31 HP:0000789
4 hirsutism 31 HP:0001007
5 oligomenorrhea 31 HP:0000876

Drugs & Therapeutics for Cortisone Reductase Deficiency 1

Search Clinical Trials , NIH Clinical Center for Cortisone Reductase Deficiency 1

Genetic Tests for Cortisone Reductase Deficiency 1

Genetic tests related to Cortisone Reductase Deficiency 1:

# Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 1 28 H6PD

Anatomical Context for Cortisone Reductase Deficiency 1

MalaCards organs/tissues related to Cortisone Reductase Deficiency 1:

38
Ovary

Publications for Cortisone Reductase Deficiency 1

Articles related to Cortisone Reductase Deficiency 1:

# 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 1

UniProtKB/Swiss-Prot genetic disease variations for Cortisone Reductase Deficiency 1:

71
# Symbol AA change Variation ID SNP ID
1 H6PD p.Arg453Gln VAR_026487 rs6688832
2 H6PD p.Pro146Leu VAR_069193

ClinVar genetic disease variations for Cortisone Reductase Deficiency 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 H6PD NM_004285.3(H6PD) insertion Pathogenic rs606231222 GRCh38 Chromosome 1, 9264353: 9264354
2 H6PD NM_004285.3(H6PD): c.960G> A (p.Val320=) single nucleotide variant Pathogenic rs398122816 GRCh37 Chromosome 1, 9322332: 9322332
3 H6PD NM_004285.3(H6PD): c.1076G> A (p.Gly359Asp) single nucleotide variant Pathogenic rs387907167 GRCh37 Chromosome 1, 9323628: 9323628
4 H6PD NM_004285.3(H6PD): c.948C> G (p.Tyr316Ter) single nucleotide variant Pathogenic rs398122817 GRCh37 Chromosome 1, 9322320: 9322320
5 H6PD NM_004285.3(H6PD): c.325delC (p.Arg109Alafs) deletion Pathogenic rs398122818 GRCh37 Chromosome 1, 9305318: 9305318

Expression for Cortisone Reductase Deficiency 1

Search GEO for disease gene expression data for Cortisone Reductase Deficiency 1.

Pathways for Cortisone Reductase Deficiency 1

GO Terms for Cortisone Reductase Deficiency 1

Sources for Cortisone Reductase Deficiency 1

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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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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