ORPHA:526
Liddle syndrome
Synonyms: Pseudoaldosteronism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Liddle syndrome | Pseudoaldosteronism |
| fr | Syndrome de Liddle | Pseudoaldostéronisme |
| de | Liddle-Syndrom | Pseudoaldosteronismus |
| es | Síndrome de Liddle | Pseudoaldosteronismo |
| it | Sindrome di Liddle | Pseudoaldosteronismo |
| nl | Syndroom van Liddle | Pseudoaldosteronisme |
| pt | Síndrome Liddle | Pseudoaldosteronismo |
| pl | Zespół Liddle'a | Pseudoaldosteronizm · Pseudohiperaldosteronizm typu 1 |
| cs | Liddleův syndrom | Pseudoaldosteronismus · Pseudohyperaldosteronismus, typ I |
| uk | Синдром Ліддла | Псевдоальдостеронізм |
| zh | Liddle综合征 | 假性醛固酮增多症1型 |
| tr | Liddle sendromu | Psödoalosteronizm · Psödohiperaldosteronizm tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177200 | BTNT | validated | |
| OMIM | 618114 | BTNT | validated | |
| OMIM | 618126 | BTNT | validated | |
| ICD-10 | I15.1 | NTBT | attributed | validated |
| ICD-11 | BA04.Y | NTBT | index | validated |
| MONDO | 0008323 | E | validated | |
| MeSH | D056929 | E | validated | |
| UMLS | C0221043 | E | validated | |
| GARD | 7381 | E | validated | |
| MedDRA | 10052313 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCNN1A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10599 | ENSG00000111319 | 600228 | 12p13.31 | sodium channel epithelial 1 subunit alpha | 28710092[PMID] |
| SCNN1B | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10600 | ENSG00000168447 | 600760 | 16p12.2 | sodium channel epithelial 1 subunit beta | |
| SCNN1G | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10602 | ENSG00000166828 | 600761 | 16p12.2 | sodium channel epithelial 1 subunit gamma |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 72 families | Worldwide | Family(ies) | Validated | 29534496[PMID]_[EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0002019 | Constipation | |
| HP:0000822 | Hypertension | |
| HP:0002900 | Hypokalemia | |
| Frequent (79-30%) | ||
| HP:0002637 | Cerebral ischemia | |
| HP:0012378 | Fatigue | |
| HP:0001324 | Muscle weakness | |
| HP:0000112 | Nephropathy | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/526
- This record as JSON: /data/d/526.json