Genopathy
Gene-Disorder Association · Article
Gene
HSD11B2
Hydroxysteroid 11-Beta Dehydrogenase 2
Disorder
Liddle Syndrome 1
First reported 2001
Key publication · gene–disorder Alteration of the activity of the 11beta-hydroxysteroid dehydrogenase in pregnancy: relevance for the development of pregnancy-induced hypertension?The Journal of clinical endocrinology and metabolism · 2001
Key publication · disorder Licorice-induced pseudoaldosteronism. Hypertension, hypokalemia, aldosteronopenia, and suppressed plasma renin activity.JAMA · 1968
Manually curated
Association Review

In brief

The association between HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2) and Liddle Syndrome 1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 17
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
HSD11B2

The gene

1 source summary

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

Request access
04
Liddle Syndrome 1

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

12 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

6 references

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

Request access