Thyrotoxic periodic paralysis
Synonyms: Thyrotoxic hypokalemic periodic paralysis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
A form of acquired hypokalemic periodic paralysis characterized by a triad of acute flaccid paralysis, hypokalemia, and thyrotoxicosis. These episodes vary in duration, lasting from 2 to 72 hours, and in severity, ranging from paresis to complete paralysis. Attacks are triggered by carbohydrate-rich meals or by strenuous physical activity, followed by a period of rest.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thyrotoxic periodic paralysis | Thyrotoxic hypokalemic periodic paralysis |
| fr | Paralysie périodique thyrotoxique | Paralysie périodique thyrotoxique hypokaliémique |
| de | Paralyse, periodische thyreotoxische | Thyreotoxische hypokaliämische periodische Paralyse |
| es | Parálisis periódica tirotóxica | |
| it | Paralisi periodica tireotossica | |
| nl | Thyreotoxische periodieke paralyse | Thyreotoxische hypokaliëmische periodieke paralyse · Thyreotoxische periodieke verlamming |
| pt | Paralisia periódica tireotóxica | |
| pl | Tyreotoksyczny paraliż okresowy | Tyreotoksyczny hipokalemiczny paraliż okresowy |
| cs | Tyreotoxická periodická paralýza | Tyreotoxická hypokalemická periodická paralýza |
| uk | Тиреотоксичний періодичний параліч | Тиреотоксичний гіпокаліємічний періодичний параліч |
| zh | 甲状腺毒性周期性麻痹 | 甲状腺毒性低钾周期性麻痹 |
| tr | Tirotoksik periyodik paraliz | Tirotoksik hipokalemik periyodik paraliz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188580 | BTNT | validated | |
| OMIM | 613239 | BTNT | validated | |
| OMIM | 614834 | BTNT | validated | |
| ICD-10 | G72.3 | NTBT | attributed | validated |
| ICD-11 | 5A02.Y | NTBT | index | validated |
| MONDO | 0019201 | E | validated | |
| UMLS | C0268446 | E | validated | |
| GARD | 10814 | E | validated | |
| MedDRA | 10043788 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206976Periodic paralysis
rare neurological diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1S | Candidate gene tested in | Not yet assessed | HGNC:1397 | ENSG00000081248 | 114208 | 1q32.1 | calcium voltage-gated channel subunit alpha1 S | 15001631[PMID] |
| GABRA3 | Major susceptibility factor in | Assessed | HGNC:4077 | ENSG00000011677 | 305660 | Xq28 | gamma-aminobutyric acid type A receptor subunit alpha3 | 17970773[PMID] |
| KCNJ18 | Major susceptibility factor in | Assessed | HGNC:39080 | ENSG00000260458 | 613236 | 17p11.2 | potassium inwardly rectifying channel subfamily J member 18 | 20074522[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
HPO phenotypes
42 annotations · validated 2016-06-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012726 | Episodic hypokalemia | |
| HP:0000836 | Hyperthyroidism | Diagnostic criterion |
| HP:0008153 | Periodic hypokalemic paresis | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0012364 | Decreased urinary potassium | |
| HP:0003457 | EMG abnormality | |
| HP:0003752 | Episodic flaccid weakness | |
| HP:0100647 | Graves disease | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002917 | Hypomagnesemia | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0001513 | Obesity | |
| HP:0001962 | Palpitations | |
| HP:0003470 | Paralysis | |
| HP:0002445 | Tetraplegia | |
| HP:0011784 | Thyrotoxicosis with diffuse goiter | |
| HP:0011785 | Thyrotoxicosis with toxic multinodular goitre | |
| HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule | |
| HP:0008285 | Transient hypophosphatemia | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0001265 | Hyporeflexia | |
| HP:0003394 | Muscle spasm | |
| HP:0003552 | Muscle stiffness | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0001337 | Tremor | |
| HP:0000016 | Urinary retention | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0003694 | Late-onset proximal muscle weakness | |
| HP:0001657 | Prolonged QT interval | |
| HP:0011706 | Second degree atrioventricular block | |
| HP:0005165 | Shortened PR interval | |
| HP:0001663 | Ventricular fibrillation | |
| Very rare (<4-1%) | ||
| HP:0002153 | Hyperkalemia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0002203 | Respiratory paralysis | |
| Excluded (0%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0006670 | Impaired myocardial contractility | |
| HP:0002486 | Myotonia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22918841[PMID]_5353150[PMID]_13696795[PMID]_7092449[PMID]_16467598[PMID]_NBK285567[OTHER]_7711509[PMID]_26935888[PMID]_22863731[PMID]_25566931[PMID]_ 5353150[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79102
- This record as JSON: /data/d/79102.json