ORPHA:681
Hypokalemic periodic paralysis
Synonyms: Westphall disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypokalemic periodic paralysis | Westphall disease |
| fr | Paralysie périodique hypokaliémique | Maladie de Westphall |
| de | Paralyse, hypokaliämische periodische | Westphall-Krankheit |
| es | Parálisis periódica hipopotasémica | Enfermedad de Westphall · Parálisis periódica hipocaliémica · Parálisis periódica hipocalémica |
| it | Paralisi periodica ipokaliemica | Malattia di Westphall |
| nl | Hypokaliëmische periodieke paralyse | Hypokaliëmische periodieke verlamming · Ziekte van Westphall |
| pt | Paralisia periódica hipocaliémica | Doença de Westphall |
| pl | Okresowe porażenie hipokaliemiczne | Choroba Westphalla |
| cs | Hypokalemická periodická paralýza | Westphalova nemoc |
| uk | Гіпокаліємічний періодичний параліч | Хвороба Вестфаля |
| zh | 低钾性周期性麻痹 | Westphall病 |
| tr | Hipokalemik periyodik paralizi | Westphall hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 170400 | E | validated | |
| OMIM | 613345 | BTNT | validated | |
| ICD-10 | G72.3 | NTBT | inclusion | validated |
| ICD-11 | 8C74.10 | E | specific | validated |
| MONDO | 0008223 | E | validated | |
| MeSH | D020514 | E | validated | |
| UMLS | C0238358 | E | validated | |
| GARD | 6729 | 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 (6):
- ORPHA:371433Genetic periodic paralysis
rare genetic diseases - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases - ORPHA:98740Neurological muscular channelopathy due to a genetic calcium channel defect
rare genetic diseases; rare neurological diseases - ORPHA:98741Neurological muscular channelopathy due to a genetic potassium channel defect
rare genetic diseases; rare neurological 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.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNE3 | Candidate gene tested in | Not yet assessed | HGNC:6243 | ENSG00000175538 | 604433 | 11q13.4 | potassium voltage-gated channel subfamily E regulatory subunit 3 | 14504341[PMID]_15037713[PMID] |
| CACNA1S | Disease-causing germline mutation(s) in | Assessed | HGNC:1397 | ENSG00000081248 | 114208 | 1q32.1 | calcium voltage-gated channel subunit alpha1 S | 20301512[PMID] |
| SCN4A | Disease-causing germline mutation(s) in | Assessed | HGNC:10591 | ENSG00000007314 | 603967 | 17q23.3 | sodium voltage-gated channel alpha subunit 4 | 20301512[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 20301512[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.53 / 100 000 | Netherlands | Value and class | Validated | 29606556[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 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.
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HPO phenotypes
22 annotations · validated 2024-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012726 | Episodic hypokalemia | |
| HP:0008153 | Periodic hypokalemic paresis | |
| Very frequent (99-80%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0003457 | EMG abnormality | |
| HP:0003752 | Episodic flaccid weakness | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003470 | Paralysis | |
| Frequent (79-30%) | ||
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0001315 | Reduced tendon reflexes | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0003694 | Late-onset proximal muscle weakness | |
| HP:0003394 | Muscle spasm | |
| HP:0012531 | Pain | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0008256 | Adrenocortical adenoma | |
| HP:0030196 | Fatigable weakness of respiratory muscles | |
| HP:0002203 | Respiratory paralysis | |
| Excluded (0%) | ||
| HP:0006670 | Impaired myocardial contractility | |
| HP:0002486 | Myotonia | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301512[PMID]_26935888[PMID]_6022527[PMID]_15534250[PMID]_5637755[PMID]_2276049[PMID]_5353150[PMID]_16467598[PMID]_10074484[PMID]_9066893[PMID]_NBK1338[OTHER]_3659246[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/681
- This record as JSON: /data/d/681.json