CORTRD2
MCID: CRT066
MIFTS: 24

Cortisone Reductase Deficiency 2 (CORTRD2)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Cortisone Reductase Deficiency 2

MalaCards integrated aliases for Cortisone Reductase Deficiency 2:

Name: Cortisone Reductase Deficiency 2 56 12 73 29 13 6 39 71
Cortrd2 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated boys reported with relatively mild phenotype (last curated may 2012)
carrier mothers have urine biochemistry profiles identical to those of their sons


HPO:

31
cortisone reductase deficiency 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090140
OMIM 56 614662
OMIM Phenotypic Series 56 PS604931
MeSH 43 D008661
NCIt 49 C131084
UMLS 71 C3553382

Summaries for Cortisone Reductase Deficiency 2

OMIM : 56 Cortisone reductase deficiency (CRD) is a disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase, encoded by the HSD11B1 gene. Purified 11-beta-HSD acts readily as a dehydrogenase, inactivating cortisol to cortisone; however, in the presence of a high NADPH/NADP+ ratio, generated in vivo through the activity of microsomal hexose-6-phosphate dehydrogenase (H6PD; 138090), 11-beta-HSD switches to ketoreductase activity and generates active glucocorticoid. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting later with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lawson et al., 2011). For a discussion of genetic heterogeneity of cortisone reductase deficiency, see CORTRD1 (604931). (614662)

MalaCards based summary : Cortisone Reductase Deficiency 2, also known as cortrd2, is related to cortisone reductase deficiency. An important gene associated with Cortisone Reductase Deficiency 2 is HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1). Affiliated tissues include pituitary, bone and ovary, and related phenotypes are obesity and acanthosis nigricans

Disease Ontology : 12 A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has material basis in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.

UniProtKB/Swiss-Prot : 73 Cortisone reductase deficiency 2: An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males.

Related Diseases for Cortisone Reductase Deficiency 2

Diseases related to Cortisone Reductase Deficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cortisone reductase deficiency 9.2 HSD11B1-AS1 HSD11B1

Symptoms & Phenotypes for Cortisone Reductase Deficiency 2

Human phenotypes related to Cortisone Reductase Deficiency 2:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 occasional (7.5%) HP:0001513
2 acanthosis nigricans 31 occasional (7.5%) HP:0000956
3 premature pubarche 31 occasional (7.5%) HP:0012411
4 accelerated skeletal maturation 31 occasional (7.5%) HP:0005616
5 insulin resistance 31 occasional (7.5%) HP:0000855

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
low tetrahydrocortisol (thf) plus 5-alpha-thf/tetrahydrocortisone (the) ratio
low cortols-to-cortolone ratio
low to normal absolute level of cortisol metabolites
high absolute level of cortisone metabolites
increased cortisol excretion rate
more
Genitourinary External Genitalia Male:
premature pubarche (in some patients)

Skin Nails Hair Skin:
acanthosis nigricans (in some patients)

Growth Weight:
obesity (in some patients)

Skeletal:
advanced bone age (in some patients)

Clinical features from OMIM:

614662

Drugs & Therapeutics for Cortisone Reductase Deficiency 2

Search Clinical Trials , NIH Clinical Center for Cortisone Reductase Deficiency 2

Genetic Tests for Cortisone Reductase Deficiency 2

Genetic tests related to Cortisone Reductase Deficiency 2:

# Genetic test Affiliating Genes
1 Cortisone Reductase Deficiency 2 29 HSD11B1

Anatomical Context for Cortisone Reductase Deficiency 2

MalaCards organs/tissues related to Cortisone Reductase Deficiency 2:

40
Pituitary, Bone, Ovary

Publications for Cortisone Reductase Deficiency 2

Articles related to Cortisone Reductase Deficiency 2:

# Title Authors PMID Year
1
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 56 6
21325058 2011
2
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. 6
17062770 2007
3
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. 6
16817821 2006
4
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. 6
16091483 2005
5
A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome. 6
15827106 2005
6
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. 6
12858176 2003

Variations for Cortisone Reductase Deficiency 2

ClinVar genetic disease variations for Cortisone Reductase Deficiency 2:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSD11B1 NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys)SNV Pathogenic 31588 rs387907168 1:209880365-209880365 1:209707020-209707020
2 HSD11B1 NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn)SNV Pathogenic 31589 1:209905824-209905824 1:209732479-209732479
3 HSD11B1 NM_005525.4(HSD11B1):c.332-29T>GSNV no interpretation for the single variant 375729 rs12086634 1:209880259-209880259 1:209706914-209706914
4 HSD11B1 NM_005525.4(HSD11B1):c.331+53dupduplication no interpretation for the single variant 375731 rs45487298 1:209880216-209880217 1:209706871-209706872

Expression for Cortisone Reductase Deficiency 2

Search GEO for disease gene expression data for Cortisone Reductase Deficiency 2.

Pathways for Cortisone Reductase Deficiency 2

GO Terms for Cortisone Reductase Deficiency 2

Sources for Cortisone Reductase Deficiency 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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