Liddle syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: pseudoaldosteronism
Pseudohyperaldosteronism type 1
Number of Symptoms 16
OrphanetNr: 526
OMIM Id: 177200
ICD-10: I15.1
UMLs: C0221043
MeSH: D056929
MedDRA: 10037113
10052313
Snomed: 71275003

Prevalence, inheritance and age of onset:

Prevalence: 80 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
2
(HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
3
(HPO:0004319) Hypoaldosteronism 9 / 7739
4
(HPO:0003351) Decreased circulating renin level 8 / 7739
5
(HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
6
(HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
7
(HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
8
(HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
9
(HPO:0002900) Hypokalemia Very frequent [Orphanet] 45 / 7739
10
(HPO:0001949) Hypokalemic alkalosis 5 / 7739
11
(HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(MedDRA:10038557) Renin decreased 2 / 7739
14
(OMIM) Renal epithelial sodium channel defect 1 / 7739
15
(MedDRA:10037113) Pseudoaldosteronism 1 / 7739
16
(OMIM) Decreased angiotensin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: