Genopathy
Gene-Disorder Association · Article
Gene
H6PD
Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase
Disorder
Cortisone Reductase Deficiency
First reported 2003
Supporting publications 7
Key publication · gene–disorder Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.Nature genetics · 2003
Key publication · disorder Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.The Journal of clinical endocrinology and metabolism · 1993
Manually curated
Association Review

In brief

The association between H6PD (Hexose-6-Phosphate Dehydrogenase/Glucose 1-Dehydrogenase) and Cortisone Reductase Deficiency is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 10
Compounds 0
Trials 0
Publications 7
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
H6PD

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Cortisone Reductase Deficiency

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

10 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Literature

Reading

7 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

16 references

Every source and publication cited across this dossier, as one numbered reference list.

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