ORPHA:369929
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | |
| fr | Syndrome d'hyperaldostéronisme primitif-épilepsie-anomalies neurologiques | |
| de | Primärer Hyperaldosteronismus-Krämpfe-Neurologische Anomalien-Syndrom | |
| es | Síndrome de hiperaldosteronismo primario-crisis-anomalías neurológicas | |
| it | Sindrome da iperaldosteronismo primitivo-crisi epilettiche-anomalie neurologiche | APA con malattia neuromuscolare complessa · Adenoma di Conn con malattia neuromuscolare complessa · Adenoma secernente adolsterone con malattia neuromuscolare complessa |
| nl | Primair hyperaldosteronisme - insulten - neurologische anomalieën-syndroom | |
| pt | Adenoma secretor de aldosterona com doença neuromuscular complexa | |
| pl | Gruczolak produkujący aldosteron ze złożoną chorobą nerwowo-mięśniową | APA ze złożoną chorobą nerwowo-mięśniową · Gruczolak Conna ze złożoną chorobą nerwowo-mięśniową · Gruczolak wydzielający aldosteron ze złożoną chorobą nerwowo-mięśniową |
| cs | Adenom produkující aldosteron se záchvaty a neurologickými abnormalitami | APA se záchvaty a neurologickými abnormalitami · Adenom sekretující aldosteron se záchvaty a neurologickými abnormalitami · Connův adenom se záchvaty a neurologickými abnormalitami |
| uk | Синдром первинного гіперальдостеронізму-судом-неврологічних порушень | |
| zh | 原发性醛固酮增多症伴癫痫和神经系统异常综合征 | |
| tr | Primer hiperaldosteronizm-nöbetler-nörolojik anormallikler sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615474 | E | validated | |
| ICD-10 | E26.0 | NTBT | attributed | validated |
| MONDO | 0014200 | E | validated | |
| MONDO | 14200 | E | validated | |
| UMLS | C5230308 | 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:371861Genetic hyperaldosteronism
rare genetic diseases - ORPHA:231637Rare surgically correctable form of primary aldosteronism
rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1D | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1391 | ENSG00000157388 | 114206 | 3p21.1 | calcium voltage-gated channel subunit alpha1 D | 23913001[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23913001[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
30 annotations · validated 2016-08-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0040084 | Abnormal circulating renin | |
| HP:0000822 | Hypertension | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| Very frequent (99-80%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0001263 | Global developmental delay | |
| HP:0002900 | Hypokalemia | |
| HP:0001250 | Seizure | |
| HP:0001714 | Ventricular hypertrophy | |
| Frequent (79-30%) | ||
| HP:0002305 | Athetosis | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011410 | Caesarian section | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0100285 | EMG: impaired neuromuscular transmission | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0200114 | Metabolic alkalosis | |
| HP:0001959 | Polydipsia | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0011706 | Second degree atrioventricular block | |
| HP:0001258 | Spastic paraplegia | |
| Occasional (29-5%) | ||
| HP:0000421 | Epistaxis | |
| HP:0002315 | Headache | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0002018 | Nausea | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000360 | Tinnitus | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0008221 | Adrenal hyperplasia | |
| Excluded (0%) | ||
| HP:0011739 | Dexamethasone-suppresible primary hyperaldosteronism | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23913001[PMID]_26934393[PMID]_27036860[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369929
- This record as JSON: /data/d/369929.json