ORPHA:682
Hyperkalemic periodic paralysis
Synonyms: Adynamia episodica hereditaria · Familial hyperPP · Familial hyperkalemic periodic paralysis · Gamstorp disease · Gamstorp episodic adynamy · HYPP · HyperKPP · HyperPP · Hyperkalemic PP · Primary hyperPP · Primary hyperkalemic periodic paralysis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperkalemic periodic paralysis | Adynamia episodica hereditaria · Familial hyperPP · Familial hyperkalemic periodic paralysis · Gamstorp disease · Gamstorp episodic adynamy · HYPP · HyperKPP · HyperPP · Hyperkalemic PP · Primary hyperPP · Primary hyperkalemic periodic paralysis |
| fr | Paralysie périodique hyperkaliémique | Adynamie épisodique de Gamstorp · Adynamie épisodique héréditaire · HYPP · HyperPP · Maladie de Gamstorp · PPHyperK |
| de | Paralyse, hyperkaliämische periodische | Adynamia episodica hereditaria · Familiäre HyperPP · Familiäre hyperkaliämische periodische Paralyse · Gamstorp-Syndrom · HyperPP · Hyperkaliämische PP · Primäre HyperPP |
| es | Parálisis periódica hiperpotasémica | Adinamia episódica de Gamstorp · Adinamia episódica hereditaria · Enfermedad de Gamstorp · HYPP · HiperKPP · HiperPP · HiperPP familiar · HiperPP primaria · PP hipercalémica · Parálisis periódica hipercaliémica · Parálisis periódica hipercalémica · Parálisis periódica hipercalémica primaria |
| it | Paralisi periodica iperkaliemica | Adinamia episodica di Gamstorp · Adinamia episodica ereditaria · HYPP · IperKPP · IperPP · IperPP familiare · IperPP primitiva · Malattia di Gamstorp · PP iperkaliemica · Paralisi periodica iperkaliemica familiare · Paralisi periodica iperkaliemica primitiva |
| nl | Hyperkaliëmische periodieke paralyse | Adynamia episodica hereditaria · Familiale HyperPP · Familiale hyperkaliëmische periodieke verlamming · Gamstorp episodische adynamie · HYPP · HyperKPP · HyperPP · Hyperkaliëmische PP · Primaire hyperPP · Primaire hyperkaliëmische periodieke verlamming · Ziekte van Gamstorp |
| pt | Paralisia periódica hipercaliémica | Adinamia episódica de Gamstorp |
| pl | Okresowe porażenie hiperkaliemiczne | Adynamia okresowa Gamstorpa · Choroba Gamstorpa · HiperKPP · Hiperpotasemiczne · HiperPP · HYPP · Okresowa adynamia wrodzona · Pierwotne hiperPP · Pierwotne okresowe porażenie hiperkaliemiczne · Rodzinne hiperPP · Rodzinne okresowe porażenie hiperkaliemiczne |
| cs | Hyperkalemická periodická paralýza | Adynamia episodica hereditaria · Rodinná hyperPP · Familiární hyperkalemická periodická paralýza · Gamstorpova nemoc · Gamstorpova epizodická adynamie · HYPP · HyperKPP · HyperPP · Hyperkalemická PP · Primární hyperPP · Primární hyperkalemická periodická paralýza |
| uk | Гіперкаліємічний періодичний параліч | Епізодична спадкова адинамія · Сімейний гіперкаліємічний періодичний параліч · Сімейний гіперПП · Хвороба Гамсторпа · Епізодична динаміка Gamstorp · Гіперкаліємічний ПП · HyperKPP · HyperPP · HYPP · Первинний гіперкаліємічний періодичний параліч · Первинний гіперПП |
| zh | 高钾性周期性麻痹 | 遗传性周期性肌无力 |
| tr | Hiperkalemik periyodik paralizi | HYPP · HyperPP · HyperKPP · Hiperkalemik PP · Primer hiperPP · Ailesel hiperPP · Gamstorp hastalığı · Gamstorp epizodik adinami · Adinami episodika hereditari · Primer hiperkalemik periyodik paraliz · Ailesel hiperkalemik periyodik paraliz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 170500 | E | validated | |
| ICD-10 | G72.3 | NTBT | inclusion | validated |
| ICD-11 | 8C74.11 | E | specific | validated |
| MONDO | 0008224 | E | validated | |
| MeSH | D020513 | E | validated | |
| UMLS | C0238357 | E | validated | |
| GARD | 195 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:371433Genetic periodic paralysis
rare genetic diseases - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases - ORPHA:206976Periodic paralysis
rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:680Normokalemic periodic paralysis moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN4A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10591 | ENSG00000007314 | 603967 | 17q23.3 | sodium voltage-gated channel alpha subunit 4 | 20301669[PMID]_17395131[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | 20301669[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.06 / 100 000 | Netherlands | Value and class | Validated | 29606556[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | United Kingdom | Value and class | Validated | 23516313[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100021 | Cerebral palsy | |
| HP:0003457 | EMG abnormality | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003752 | Episodic flaccid weakness | |
| HP:0007215 | Periodic hyperkalemic paralysis | |
| HP:0001315 | Reduced tendon reflexes | |
| Frequent (79-30%) | ||
| HP:0002380 | Fasciculations | |
| HP:0001288 | Gait disturbance | |
| HP:0002153 | Hyperkalemia | |
| HP:0003326 | Myalgia | |
| HP:0002486 | Myotonia | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0002607 | Bowel incontinence | |
| HP:0100749 | Chest pain | |
| HP:0001635 | Congestive heart failure | |
| HP:0100613 | Death in early adulthood | |
| HP:0001522 | Death in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001371 | Flexion contracture | |
| HP:0001276 | Hypertonia | |
| HP:0002900 | Hypokalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0003198 | Myopathy | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0003401 | Paresthesia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003712 | Skeletal muscle hypertrophy | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/682
- This record as JSON: /data/d/682.json