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TTPP2
MCID: THY083
MIFTS: 30
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Thyrotoxic Periodic Paralysis 2 (TTPP2)
Categories:
Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Thyrotoxic Periodic Paralysis 2:
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
genetic heterogeneity more frequent in males attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise attacks may present during or after sleep usually occurs in young adulthood muscle weakness occurs only in the presence of hyperthyroidism more frequent in individuals of asian descent complete recovery upon treatment of hyperthyroidism HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases |
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UniProtKB/Swiss-Prot
:
76
Thyrotoxic periodic paralysis 2: A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.
MalaCards based summary : Thyrotoxic Periodic Paralysis 2, also known as thyrotoxic periodic paralysis, susceptibility to, 2, is related to thyrotoxic periodic paralysis and thyrotoxic periodic paralysis 1. An important gene associated with Thyrotoxic Periodic Paralysis 2 is KCNJ18 (Potassium Voltage-Gated Channel Subfamily J Member 18). Affiliated tissues include thyroid and colon, and related phenotypes are muscle weakness and hypokalemia
Description from OMIM:
613239
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Human phenotypes related to Thyrotoxic Periodic Paralysis 2:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:613239 |
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MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis 2:42
Thyroid,
Colon
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Articles related to Thyrotoxic Periodic Paralysis 2:(show all 48)
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Genes related to Thyrotoxic Periodic Paralysis 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Thyrotoxic Periodic Paralysis 2:76
ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis 2:6
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Search
GEO
for disease gene expression data for Thyrotoxic Periodic Paralysis 2.
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