eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hyperkalemic periodic paralysis | ||||
| Disease ID | 68 |
|---|---|
| Disease | hyperkalemic periodic paralysis |
| Definition | An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481) |
| Synonym | adynamia episodica hereditaria adynamia episodica hereditaria with or without myotonia disease, gamstorp familial hyperkalaemic periodic paralysis familial hyperkalemic periodic paralysis familial hyperkalemic periodic paralysis (disorder) familial hyperkalemic periodic paralysis (disorder) [ambiguous] gamstorp disease gamstorp episodic adynamy hyperkalaemic periodic paralysis hyperkalemic paralysis periodic hyperkalemic periodic paralysis (disorder) hyperkalemic periodic paralysis, familial hyperkpp hyperpp hypp myotonic periodic paralysis paralysis, hyperkalemic periodic paralysis, hyperkalemic periodic [disease/finding] paralysis, periodic, hyperkalemic, familial periodic hyperkalemic paralysis periodic paralysis hyperkalemic periodic paralysis ii periodic paralysis, hyperkalemic primary hyperkalemic periodic paralysis sodium channel muscle disease |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0238357 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 554 | AVPR2 | 1.324 | DISEASES 779 | CACNA1S | 5.706 | DISEASES 1180 | CLCN1 | 4.699 | DISEASES 7555 | CNBP | 2.657 | DISEASES 1756 | DMD | 1.704 | DISEASES 1760 | DMPK | 3.251 | DISEASES 1798 | DPAGT1 | 2.083 | DISEASES 2170 | FABP3 | 1.5 | DISEASES 2235 | FECH | 1.999 | DISEASES 2632 | GBE1 | 2.239 | DISEASES 3339 | HSPG2 | 1.352 | DISEASES 102723508 | KANTR | 2.211 | DISEASES 23114 | NFASC | 3.611 | DISEASES 5155 | PDGFB | 1.168 | DISEASES 5787 | PTPRB | 3.763 | DISEASES 5803 | PTPRZ1 | 3.508 | DISEASES 6261 | RYR1 | 1.765 | DISEASES 6324 | SCN1B | 2.416 | DISEASES 6329 | SCN4A | 7.872 | DISEASES 6708 | SPTA1 | 2.217 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SCN4A | 17q23.3 |
| Disease ID | 68 |
|---|---|
| Disease | hyperkalemic periodic paralysis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0100021 | Cerebral palsy HP:0003752 | Episodic flaccid weakness HP:0003198 | Myopathy HP:0001635 | Congestive heart failure HP:0003401 | Paresthesia HP:0001371 | Flexion contracture HP:0003326 | Myalgia HP:0002380 | Fasciculations HP:0007215 | Periodic hyperkalemic paralysis HP:0003236 | Elevated serum creatine phosphokinase HP:0003712 | Skeletal muscle hypertrophy HP:0002902 | Hyponatremia HP:0001522 | Death in infancy HP:0001315 | Reduced tendon reflexes HP:0001276 | Hypertonia HP:0008872 | Feeding difficulties in infancy HP:0001288 | Gait disturbance HP:0002093 | Respiratory insufficiency HP:0002607 | Bowel incontinence HP:0002900 | Hypokalemia HP:0003457 | EMG abnormality HP:0011675 | Arrhythmia HP:0002153 | Hyperkalemia HP:0002486 | Myotonia HP:0000597 | Ophthalmoparesis HP:0002047 | Malignant hyperthermia HP:0100749 | Chest pain HP:0100613 | Death in early adulthood HP:0003202 | Skeletal muscle atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 68 |
|---|---|
| Disease | hyperkalemic periodic paralysis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs17215437 | 17395131 | 10008 | KCNE3 | umls:C0238357 | BeFree | Last, because hyperkalemic PP has been described to be associated with an R83H mutation of a MiRP2 potassium channel subunit, evidence refuting disease-causality in this case will be discussed. | 0.120814326 | 2007 | KCNE3 | 11 | 74457316 | C | T |
| rs62070884 | 18046642 | 6329 | SCN4A | umls:C0238357 | UNIPROT | Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. | 0.569238955 | 2008 | SCN4A | 17 | 63957197 | C | T |
| rs80338955 | 23401572 | 6329 | SCN4A | umls:C0238357 | BeFree | Here, the association of slow sensor immobilization and SI is verified by study of Na(V)1.4 channels with a hyperkalemic periodic paralysis mutation; L689I produces complex changes in SI, and these are found to manifest directly in altered sensor movements. | 0.569238955 | 2013 | SCN4A | 17 | 63957473 | G | T |
| rs80338957 | 12933953 | 6329 | SCN4A | umls:C0238357 | BeFree | Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. | 0.569238955 | 2003 | SCN4A | 17 | 63957427 | G | A |
| rs80338957 | NA | 6329 | SCN4A | umls:C0238357 | CLINVAR | NA | 0.569238955 | NA | SCN4A | 17 | 63957427 | G | A |
| rs80338962 | NA | 6329 | SCN4A | umls:C0238357 | CLINVAR | NA | 0.569238955 | NA | SCN4A | 17 | 63941508 | T | C |
| rs80338962 | 18317596 | 6329 | SCN4A | umls:C0238357 | BeFree | We introduced a missense substitution corresponding to a human familial HyperKPP mutation (Met1592Val) into the mouse gene encoding the skeletal muscle voltage-gated Na+ channel NaV1.4. | 0.569238955 | 2008 | SCN4A | 17 | 63941508 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0011774 | abnormal urinary bladder detrusor smooth muscle morphology | any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0003752 | Episodic flaccid weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0002047 | Malignant hyperthermia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007215 | Periodic hyperkalemic paralysis | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002153 | Hyperkalemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003712 | Skeletal muscle hypertrophy | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000597 | Ophthalmoparesis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001371 | Flexion contracture | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003752 | Episodic flaccid weakness | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002380 | Fasciculations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100613 | Death in early adulthood | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0002486 | Myotonia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100021 | Cerebral palsy | MP:0013026 | decreased Ly6C low monocyte number | decrease in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002902 | Hyponatremia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002047 | Malignant hyperthermia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 68 |
|---|---|
| Disease | hyperkalemic periodic paralysis |
| Case | (Waiting for update.) |