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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/188580
http://purl.bioontology.org/ontology/OMIM/188580
|
|---|---|
| Preferred Name | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 |
| Synonyms |
TTPP1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | TTPP1
|
|---|---|
| prefLabel | THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
CACNA1S
CMYO18
TTPP1
MHS5
CCHL1A3
CACNL1A3
HOKPP1
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| Scope Statement | More frequent in individuals of Asian descent [MISCELLANEOUS]
Susceptibility conferred by mutation in the voltage-dependent calcium channel, L type, alpha-1S subunit gene (CACNA1S, 114208.0005) [MOLECULAR BASIS]
Complete recovery upon treatment of hyperthyroidism [MISCELLANEOUS]
More frequent in males [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Attacks may present during or after sleep [MISCELLANEOUS]
Muscle weakness occurs only in the presence of hyperthyroidism [MISCELLANEOUS]
Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise [MISCELLANEOUS]
Usually occurs in young adulthood [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T033
|
| Gene Locus | 1q32
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 188580
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2749982
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |