Genopathy
Gene-Disorder Association · Article
Gene
HSD11B2
Hydroxysteroid 11-Beta Dehydrogenase 2
Disorder
Apparent Mineralocorticoid Excess
First reported 1995
Supporting publications 12
Key publication · gene–disorder Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.Nature genetics · 1995
Key publication · disorder Taxonomic features of seven serotypes of simian and ape foamy viruses.Infection and immunity · 1971
Manually curated
Association Review

In brief

The association between HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2) and Apparent Mineralocorticoid Excess is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 89
Symptoms 27
Compounds 0
Trials 0
Publications 12
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

5 sources

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

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03
HSD11B2

The gene

1 source summary

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

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04
Apparent Mineralocorticoid Excess

The disorder

14 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

20 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

89 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
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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08
Literature

Reading

12 publications

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

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09
Provenance

References & sources

20 references

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

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