MCID: CRT065
MIFTS: 20

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 54 12 29 13 69
Cortisone Reductase Deficiency 71 69
Cortrd1 12
Crd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cortisone reductase deficiency 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cortisone Reductase Deficiency 1

OMIM : 54
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 cortisone reductase deficiency and cone-rod dystrophy, and has symptoms including hirsutism, 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:

id Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 12.6
2 cone-rod dystrophy 11.8
3 chylomicron retention disease 11.6
4 cortisone reductase deficiency 2 10.9

Symptoms & Phenotypes for Cortisone Reductase Deficiency 1

Symptoms via clinical synopsis from OMIM:

54

Endocrine Features:
high to high-normal cortisol secretion rate
high level of cortisone metabolites
low to normal level of cortisol metabolites
low urinary cortols-to-cortolone ratio
low tetrahydrocortisol (thf) plus 5-alpha-thf/tetrahydrocortisone (the) ratio
more
Skin Nails & Hair- Skin:
acne

Genitourinary- External Genitalia Male:
precocious puberty, gonadotropin-independent

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

Genitourinary- Internal Genitalia Female:
infertility
oligomenorrhea

Growth- Weight:
central fat distribution
obesity


Clinical features from OMIM:

604931

Human phenotypes related to Cortisone Reductase Deficiency 1:

32
id Description HPO Frequency HPO Source Accession
1 hirsutism 32 HP:0001007
2 acne 32 HP:0001061
3 infertility 32 HP:0000789
4 obesity 32 HP:0001513
5 oligomenorrhea 32 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:

id Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 1 29

Anatomical Context for Cortisone Reductase Deficiency 1

MalaCards organs/tissues related to Cortisone Reductase Deficiency 1:

39
Ovary

Publications for Cortisone Reductase Deficiency 1

Variations for Cortisone Reductase Deficiency 1

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

71
id 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
id 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

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7 CNVD
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11 DGIdb
16 ExPASy
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30 HGMD
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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