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).
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
Search interest in H6PD
Potential gene panels for H6PD gene
Nuclear-Mito NGS Panel Panel
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 panelH6PD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the H6PD gene.
More info about this panel11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1 Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ATP4A CISD2 AMT EPHB4 BICRA KDM1A HYDIN