Hypokalemic periodic paralysis, type 1
- Synonyms
- HypoPP
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Frank Weber
- Frank Lehmann-Horn
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: CACNL1A3, CCHL1A3, CMYO18, CMYP18, Cav1.1, DHPRM, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP, CACNA1S
Summary: calcium voltage-gated channel subunit alpha1 SAlso known as: CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, SCN4A
Summary: sodium voltage-gated channel alpha subunit 4
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hypokalemia
Hypokalemia
- MedGen UID: 5712
- Concept ID: C0020621
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypokalemia
- Abnormality of the musculoskeletal system
- Episodic flaccid weakness
Episodic flaccid weakness
- MedGen UID: 871107
- Concept ID: C4025572
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Myotonia
Myotonia
- MedGen UID: 675119
- Concept ID: C0700153
- Finding: Finding
Abnormality of the musculoskeletal system
- Episodic flaccid weakness
- Abnormality of the nervous system
- Periodic paralysis
Periodic paralysis
- MedGen UID: 488958
- Concept ID: C1279412
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Periodic paralysis
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