Liddle syndrome 1

Preferred Label : Liddle syndrome 1;

Symbol : LIDLS1;

CISMeF acronym : LIDLS; LIDLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PSEUDOALDOSTERONISM; LIDLS; PSEUDOHYPERALDOSTERONISM; Liddle syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, beta gene (SCNN1B, 600760.0001);

Prefixed ID : #177200;

Details

Origin ID

177200;

UMLS CUI

C0221043;

Automatic exact mappings (from CISMeF team)
- Pseudohyperaldosteronism [MedDRA LLT]
- Pseudohyperaldosteronism type 1 [ICD-11 More detail]
- sodium channel epithelial 1 subunit beta [ORDO Gene]
- sodium channel epithelial 1 subunit beta [HGNC gene]
Currated CISMeF NLP mapping
- Liddle Syndrome [NCIt concept]
- Liddle syndrome [DO Concept]
- Liddle syndrome [ORDO Disease]
- Liddle's syndrome [MedDRA Preferred Term]
- Pseudoaldosteronism [MedDRA Preferred Term]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
- Pseudoprimary hyperaldosteronism (disorder) [SNOMED CT concept]
- liddle syndrome [MeSH Descriptor]
- liddle syndrome [MeSH concept]
- pseudohyperaldosteronism [Disease (Nov.)]
- pseudoprimary aldosteronism [SNOMED Notion]
DO Cross reference
- Liddle syndrome [DO Concept]
Genes related to phenotype
- Sodium channel, epithelial 1, beta subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Decreased circulating renin level [HPO term]
- Hypertension [HPO term]
- Hypoaldosteronism [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic alkalosis [HPO term]
- Metabolic alkalosis [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Liddle syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Liddle Syndrome [NCIt concept]
- Liddle syndrome [ORDO Disease]
- Liddle syndrome [DO Concept]
- Liddle's syndrome [MedDRA Preferred Term]
- Pseudo aldosteronism [MedDRA LLT]
- Pseudoaldosteronism [MedDRA Preferred Term]
- Pseudohyperaldosteronism [MedDRA LLT]
- Pseudoprimary aldosteronism (disorder) [Inactive SNOMED CT concept]
- Pseudoprimary hyperaldosteronism (disorder) [SNOMED CT concept]
- liddle syndrome [MeSH Descriptor]
- liddle syndrome [MeSH concept]
- pseudohyperaldosteronism [Disease (Nov.)]
- pseudoprimary aldosteronism [SNOMED Notion]

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