H6PD gene related symptoms and diseases

All the information presented here about the H6PD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to H6PD gene

Symptoms // Phenotype % Cases
Hypertension Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Infertility Uncommon - Between 30% and 50% cases
Hirsutism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with H6PD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Acne
  • Overweight
  • Oligomenorrhea
  • Adrenal hyperplasia

Rare diseases associated to H6PD gene

Here you will find a list of rare diseases related to the H6PD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1

Description

Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1 ). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD ) 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). Genetic Heterogeneity of Cortisone Reductase DeficiencyCORTRD2 (OMIM ) is caused by mutation in the HSD11B1 gene (OMIM ) on chromosome 1q32.

Most common symptoms of CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1

  • Hypertension
  • Obesity
  • Alopecia
  • Infertility
  • Hirsutism


More info about CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1

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 H6PD gene

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

H6PD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the H6PD gene.

More info about this panel
United States.

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
Spain.

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