| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.0%) |
23767205 |
Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome). Thakkar M, Biswas TK, Desle HB. J Assoc Physicians India. 2012;60:56-8. |
| Broad forehead Micrognathia | ||
| Andersen Syndrome Cardiac Arrhythmia Homo sapiens Male Micrognathism Retrognathia Young Adult | ||
| 2 (39.1%) |
25988057 (4369992) |
Secondary Sjogren's syndrome presenting with hypokalemic periodic paralysis. Dormohammadi Toosi T, Naderi N, Movassaghi S, Seradj MH, Khalvat A, Shahbazi F. Oxf Med Case Reports. 2014;2014(8):135-7. |
| Xerostomia Rheumatoid arthritis | ||
| 3 (27.7%) |
25933458 |
Recurrent Hypokalemic Periodic Paralysis Unmasks Sjogren Syndrome without Sicca Symptoms. Hung YM, Huang NC, Wann SR, Chang YT, Wang JS. J Coll Physicians Surg Pak. 2015;25 Suppl 1:S36-8. |
| Xerostomia | ||
| Antirheumatic Agents Biopsy Homo sapiens Male Middle Aged Nephritis, Interstitial Sjogren's Syndrome | ||
| 3 (27.7%) |
15690142 |
A primary Sjogren's syndrome patient with distal renal tubular acidosis, who presented with symptoms of hypokalemic periodic paralysis: Report of a case study and review of the literature. Soy M, Pamuk ON, Gerenli M, Celik Y. Rheumatol Int. 2005;26(1):86-9. |
| Nephritis Xerostomia | ||
| Adult Antirheumatic Agents Combination Drug Therapy Differential Diagnosis Females Homo sapiens Potassium Deficiency Sjogren's Syndrome Xerophthalmia Xerostomia | ||
| 5 (17.5%) |
31215737 |
Familial hypokalemic periodic paralysis in pregnancy: A case report. Frappaolo A, Vadnais M. J Obstet Gynaecol Res. 2019;45(8):1608-1612. |
| Muscle weakness | ||
| Adult Females Homo sapiens Patient Care Team Pregnancy Pregnancy Complications Pregnancy Outcome | ||
| 5 (17.5%) |
30647907 |
Case Report: Recurrent hypokalemic periodic paralysis associated with distal renal tubular acidosis (type 1) and hypothyroidism secondary to Hashimoto's thyroiditis. Meregildo-Rodriguez ED, Failoc-Rojas VE. F1000Res. 2018;7:1154. |
| Hypothyroidism Muscle weakness | ||
| Hashimoto Disease Homo sapiens Hypothyroidism Male | ||
| 5 (17.5%) |
30090141 (6057184) |
Phenotypical Variation with Same Genetic Mutation in Familial Hypokalemic Periodic Paralysis. Kumar S, Offiong EE, Sangita S, Hussain N. J Pediatr Neurosci. 2018;13(2):218-220. |
| Paralysis Muscle stiffness | ||
| CACNA1S | ||
| p|SUB|R|1239|H;RS#:28930068 |SUB|C|3716|G,A | ||
| 5 (17.5%) |
29193480 |
Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant. Anandan C, Cipriani MA, Laughlin RS, Niu Z, Milone M. Eur J Neurol. 2018;25(2):417-419. |
| Malignant hyperthermia Rhabdomyolysis | ||
| CACNA1S RYR1 | ||
| p|SUB|R|528|L | ||
| Adult Animals Calcium Channel Creatine Kinase Homo sapiens L-Type Calcium Channels Male Rhabdomyolysis | ||
| 5 (17.5%) |
28293157 (5327672) |
Thyrotoxic periodic paralysis: A case report. Al Moteri BL, Aslam M. Int J Health Sci (Qassim). 2017;11(1):1-2. |
| Hyperthyroidism Muscle weakness | ||
| 5 (17.5%) |
28255549 (5314262) |
Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis. Jung YL, Kang JY. World J Clin Cases. 2017;5(2):56-60. |
| Muscle weakness | ||
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008153 | Periodic hypokalemic paresis | Obligate (100%) |
| HP:0012726 | Episodic hypokalemia | Obligate (100%) |
| HP:0003457 | EMG abnormality | Very frequent (99-80%) |
| HP:0003470 | Paralysis | Very frequent (99-80%) |
| HP:0003752 | Episodic flaccid weakness | Very frequent (99-80%) |
| HP:0004303 | Abnormal muscle fiber morphology | Very frequent (99-80%) |
| HP:0008180 | Mildly elevated creatine kinase | Very frequent (99-80%) |
| HP:0012240 | Increased intramyocellular lipid droplets | Very frequent (99-80%) |
| HP:0009020 | Exercise-induced muscle fatigue | Frequent (79-30%) |
| HP:0011998 | Postprandial hyperglycemia | Frequent (79-30%) |
| HP:0003694 | Late-onset proximal muscle weakness | Occasional (29-5%) |
| HP:0002203 | Respiratory paralysis | Very rare (4-1%) |
| HP:0008256 | Adrenocortical adenoma | Very rare (4-1%) |
| HP:0030196 | Fatigable weakness of respiratory muscles | Very rare (4-1%) |
| HP:0002486 | Myotonia | Excluded (0%) |
| HP:0006670 | Impaired myocardial contractility | Excluded (0%) |
Total: 43
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001324 | Muscle weakness | 16 |
| HP:0003470 | Paralysis | 14 |
| HP:0002900 | Hypokalemia | 13 |
| HP:0000836 | Hyperthyroidism | 7 |
| HP:0001947 | Renal tubular acidosis | 5 |
| HP:0003198 | Myopathy | 5 |
| HP:0000821 | Hypothyroidism | 4 |
| HP:0011675 | Arrhythmia | 3 |
| HP:0000822 | Hypertension | 2 |
| HP:0000859 | Hyperaldosteronism | 2 |
| HP:0001663 | Ventricular fibrillation | 2 |
| HP:0001941 | Acidosis | 2 |
| HP:0001942 | Metabolic acidosis | 2 |
| HP:0002047 | Malignant hyperthermia | 2 |
| HP:0002148 | Hypophosphatemia | 2 |
| HP:0002486 | Myotonia | 2 |
| HP:0004308 | Ventricular arrhythmia | 2 |
| HP:0004756 | Ventricular tachycardia | 2 |
| HP:0012819 | Myocarditis | 2 |
| HP:0000771 | Gynecomastia | 1 |
| HP:0000793 | Membranoproliferative glomerulonephritis | 1 |
| HP:0000842 | Hyperinsulinemia | 1 |
| HP:0000854 | Thyroid adenoma | 1 |
| HP:0001284 | Areflexia | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001337 | Tremor | 1 |
| HP:0001649 | Tachycardia | 1 |
| HP:0001716 | Wolff-Parkinson-White syndrome | 1 |
| HP:0001948 | Alkalosis | 1 |
| HP:0002315 | Headache | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0003324 | Generalized muscle weakness | 1 |
| HP:0003472 | Hypocalcemic tetany | 1 |
| HP:0010547 | Muscle flaccidity | 1 |
| HP:0011703 | Sinus tachycardia | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0012486 | Myelitis | 1 |
| HP:0012726 | Episodic hypokalemia | 1 |
| HP:0031273 | Shock | 1 |
| HP:0100614 | Myositis | 1 |
| HP:0100646 | Thyroiditis | 1 |