HSD11B1 gene related symptoms and diseases

All the information presented here about the HSD11B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HSD11B1 gene

Symptoms // Phenotype % Cases
Obesity Uncommon - Between 30% and 50% cases
Infertility Uncommon - Between 30% and 50% cases
Hirsutism Uncommon - Between 30% and 50% cases
Epidermal acanthosis Uncommon - Between 30% and 50% cases
Insulin resistance Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HSD11B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Accelerated skeletal maturation
  • Acanthosis nigricans
  • Oligomenorrhea
  • Premature pubarche
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Rare diseases associated to HSD11B1 gene

Here you will find a list of rare diseases related to the HSD11B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2


Description

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 ), 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 (OMIM ).

Most common symptoms of CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2

  • Obesity
  • Infertility
  • Hirsutism
  • Epidermal acanthosis
  • Insulin resistance


More info about CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2

SOURCES: OMIM

HYPERANDROGENISM DUE TO CORTISONE REDUCTASE DEFICIENCY


Alternate names

HYPERANDROGENISM DUE TO CORTISONE REDUCTASE DEFICIENCY Is also known as 11-beta-hydroxysteroid dehydrogenase deficiency type 1


More info about HYPERANDROGENISM DUE TO CORTISONE REDUCTASE DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for HSD11B1 gene

HSD11B1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the HSD11B1 gene.

More info about this panel

Single gene testing HSD11B1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HSD11B1 gene.

More info about this panel

HSD11B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HSD11B1 gene.

More info about this panel

11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL 11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1 that also includes the following genes: H6PD HSD11B1

More info about this panel


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