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cortisone reductase deficiency 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cortisone reductase deficiency 1

MONDO:0011503

Also known as:CORTRD1H6PD cortisone reductase deficiencyapparent cortisone reductase deficiency

Overview

Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency.

GeneticsAutosomal recessive · H6PD (chr 1)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Infertility, Oligomenorrhea, and Hirsutism; and sometimes findings: Alopecia, Precocious puberty, and Acne. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	2	Precocious puberty, Infertility

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

H6PD encodes hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase (791 aa). Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and metabolic intermediates for biosynthetic processes. Highest expression in Ovary (105.0 TPM) and Liver (68.4 TPM).

Cortisone reductase deficiency 1 is associated with mutations in the H6PD gene on chromosome 1.

The H6PD protein participates in NADPH regeneration pathway.

H6PD is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for H6PD is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cortisone reductase deficiency 1.

2 publications have been identified in PubMed for cortisone reductase deficiency 1. Kisho has analyzed 1 by research type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Hiltunen J (2024). [PMID: 39027480](https://pubmed.ncbi.nlm.nih.gov/39027480/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604931

GARD

Genetic and Rare Diseases Info Center

GARD:15375

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cortisone reductase deficiency 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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