CORTRD2
MCID: CRT066
MIFTS: 31

Cortisone Reductase Deficiency 2 (CORTRD2)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases
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Aliases & Classifications for Cortisone Reductase Deficiency 2

MalaCards integrated aliases for Cortisone Reductase Deficiency 2:

Name: Cortisone Reductase Deficiency 2 57 11 73 28 5 14 38 71
Cortrd2 57 11 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:



External Ids:

Disease Ontology 11 DOID:0090140
OMIM® 57 614662
OMIM Phenotypic Series 57 PS604931
MeSH 43 D008661
NCIt 49 C131084
UMLS 71 C3553382

Summaries for Cortisone Reductase Deficiency 2

OMIM®: 57 Cortisone reductase deficiency 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, CORTRD 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 CORTRD 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) (Updated 08-Dec-2022)

MalaCards based summary: Cortisone Reductase Deficiency 2, also known as cortrd2, is related to intracranial hypertension, idiopathic and intracranial hypertension. An important gene associated with Cortisone Reductase Deficiency 2 is HSD11B1 (Hydroxysteroid 11-Beta Dehydrogenase 1), and among its related pathways/superpathways are Interleukin-4 and Interleukin-13 signaling and Metabolism of steroid hormones. Affiliated tissues include pituitary, liver and bone, and related phenotypes are obesity and acanthosis nigricans

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Related Diseases for Cortisone Reductase Deficiency 2

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 intracranial hypertension, idiopathic 10.0 POMC HSD11B1
2 intracranial hypertension 10.0 POMC HSD11B1
3 apparent mineralocorticoid excess 10.0 POMC HSD11B1
4 steroid inherited metabolic disorder 10.0 POMC HSD11B1
5 adrenal adenoma 10.0 POMC HSD11B1
6 adrenal gland disease 10.0 POMC HSD11B1
7 hyperandrogenism 9.9 POMC HSD11B1
8 hypopituitarism 9.8 POMC HSD11B1
9 somatization disorder 9.8 POMC OXT
10 acute stress disorder 9.8 POMC OXT
11 cortisone reductase deficiency 9.8 POMC HSD11B1 DHRS7B
12 melancholia 9.8 POMC OXT
13 neurotic disorder 9.8 POMC OXT
14 hypochondriasis 9.8 POMC OXT
15 sexual sadism 9.8 POMC OXT
16 flying phobia 9.8 POMC OXT
17 adjustment disorder 9.8 POMC OXT
18 diabetes insipidus, neurohypophyseal 9.8 POMC OXT
19 diabetes insipidus 9.8 POMC OXT
20 inappropriate adh syndrome 9.8 POMC OXT
21 dysthymic disorder 9.8 POMC OXT
22 postpartum depression 9.8 POMC OXT
23 central diabetes insipidus 9.8 POMC OXT
24 phobic disorder 9.8 POMC OXT
25 persistent fetal circulation syndrome 9.8 POMC OXT
26 pigmentation disease 9.8 POMC OXT
27 social phobia 9.8 POMC OXT
28 endogenous depression 9.8 POMC OXT
29 acromegaly 9.8 POMC HSD11B1
30 pain agnosia 9.7 POMC OXT
31 agnosia 9.7 POMC OXT
32 generalized anxiety disorder 9.7 POMC OXT
33 conduct disorder 9.7 POMC OXT
34 conn's syndrome 9.7 POMC HSD11B1 BCL2A1
35 asperger syndrome 9.7 OXT HSD11B1
36 mental depression 9.7 POMC OXT
37 amenorrhea 9.7 POMC OXT
38 fibromyalgia 9.7 POMC OXT
39 substance abuse 9.7 POMC OXT
40 lipoid congenital adrenal hyperplasia 9.7 POMC HSD11B1
41 eating disorder 9.6 POMC OXT
42 post-traumatic stress disorder 9.5 POMC OXT BCL2A1
43 anxiety 9.5 POMC OXT BCL2A1
44 major depressive disorder 9.5 POMC OXT BCL2A1
45 pheochromocytoma 9.4 POMC OXT HSP90AA1

Graphical network of the top 20 diseases related to Cortisone Reductase Deficiency 2:



Diseases related to Cortisone Reductase Deficiency 2

Symptoms & Phenotypes for Cortisone Reductase Deficiency 2

Human phenotypes related to Cortisone Reductase Deficiency 2:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 30 Occasional (7.5%) HP:0001513
2 acanthosis nigricans 30 Occasional (7.5%) HP:0000956
3 accelerated skeletal maturation 30 Occasional (7.5%) HP:0005616
4 insulin resistance 30 Occasional (7.5%) HP:0000855
5 premature pubarche 30 Occasional (7.5%) HP:0012411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cortisone Reductase Deficiency 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 DHRS7B HSD11B1 HSP90AA1 OXT POMC

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 28 HSD11B1

Anatomical Context for Cortisone Reductase Deficiency 2

Organs/tissues related to Cortisone Reductase Deficiency 2:

MalaCards : Pituitary, Liver, Bone, Brain
ODiseA: Brain, Liver, Adipose-Subcutaneous, Adipose, Adipose-Visceral

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. 57 5
21325058 2011

Variations for Cortisone Reductase Deficiency 2

ClinVar genetic disease variations for Cortisone Reductase Deficiency 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD11B1-AS1, HSD11B1 NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys) SNV Pathogenic
31588 rs387907168 GRCh37: 1:209880365-209880365
GRCh38: 1:209707020-209707020
2 HSD11B1-AS1, HSD11B1 NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn) SNV Pathogenic
31589 rs756817759 GRCh37: 1:209905824-209905824
GRCh38: 1:209732479-209732479
3 HSD11B1-AS1, HSD11B1 NM_005525.4(HSD11B1):c.331+53dup DUP Uncertain Significance
8911 rs45487298 GRCh37: 1:209880216-209880217
GRCh38: 1:209706871-209706872
4 HSD11B1-AS1, HSD11B1 NM_005525.4(HSD11B1):c.332-29T>G SNV Benign
375729 rs12086634 GRCh37: 1:209880259-209880259
GRCh38: 1:209706914-209706914

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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