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:
|
(HPO:0000112) | Nephropathy | Frequent [Orphanet] | 92 / 7739 | |||
|
(HPO:0000083) | Renal insufficiency | Frequent [Orphanet] | 232 / 7739 | |||
|
(HPO:0004319) | Hypoaldosteronism | 9 / 7739 | ||||
|
(HPO:0003351) | Decreased circulating renin level | 8 / 7739 | ||||
|
(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
|
(HPO:0000822) | Hypertension | Very frequent [Orphanet] | 224 / 7739 | |||
|
(HPO:0002140) | Ischemic stroke | Frequent [Orphanet] | 70 / 7739 | |||
|
(HPO:0011675) | Arrhythmia | Very frequent [Orphanet] | 226 / 7739 | |||
|
(HPO:0002900) | Hypokalemia | Very frequent [Orphanet] | 45 / 7739 | |||
|
(HPO:0001949) | Hypokalemic alkalosis | 5 / 7739 | ||||
|
(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(MedDRA:10038557) | Renin decreased | 2 / 7739 | ||||
|
(OMIM) | Renal epithelial sodium channel defect | 1 / 7739 | ||||
|
(MedDRA:10037113) | Pseudoaldosteronism | 1 / 7739 | ||||
|
(OMIM) | Decreased angiotensin | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|