CORTISONE REDUCTASE DEFICIENCY 2

General Information (adopted from Orphanet):

Synonyms, Signs: CORTRD2
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614662
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
2
(HPO:0100000) Early onset of sexual maturation 9 / 7739
3
(HPO:0012411) Premature pubarche rare [HPO:skoehler] 3 / 7739
4
(HPO:0000826) Precocious puberty 42 / 7739
5
(HPO:0004233) Advanced ossification of carpal bones 14 / 7739
6
(HPO:0005616) Accelerated skeletal maturation rare [HPO:skoehler] 46 / 7739
7
(HPO:0001513) Obesity rare [HPO:skoehler] 172 / 7739
8
(HPO:0000956) Acanthosis nigricans rare [HPO:skoehler] 54 / 7739
9
(HPO:0000855) Insulin resistance rare [HPO:skoehler] 32 / 7739
10
(OMIM) High absolute level of cortisone metabolites 1 / 7739
11
(OMIM) Elevated androgen metabolite excretion level 1 / 7739
12
(OMIM) Increased cortisol excretion rate 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Low cortols-to-cortolone ratio 1 / 7739
15
(OMIM) Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio 2 / 7739
16
(OMIM) Low to normal absolute level of cortisol metabolites 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Lawson et al. (2011) studied 2 unrelated boys who presented at 8 years and 13 years of age, respectively, with hyperandrogenism and premature pseudopuberty with biochemical features of cortisone reductase deficiency. The 8-year-old boy had premature pubarche and ...
Molecular genetics OMIM In 2 young boys with a mild form of cortisone reductase deficiency, in whom no mutations were detected in the H6PD gene (138090), Lawson et al. (2011) identified heterozygosity for different missense mutations in the HSD11B1 gene (600713.0002 ...