MCID: THY054
MIFTS: 51

Thyrotoxic Periodic Paralysis

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Thyrotoxic Periodic Paralysis

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis:

Name: Thyrotoxic Periodic Paralysis 50 56 29 69
Thyrotoxic Hypokalemic Periodic Paralysis 56

Characteristics:

Orphanet epidemiological data:

56
thyrotoxic periodic paralysis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Thyrotoxic Periodic Paralysis

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79102disease definitionthyrotoxic periodic paralysis (tpp) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.epidemiologyit is most common in asian males (with male-to-female ratios ranging from 17:1 to 70:1) during the third decade of life: the annual incidence in chinese and japanese thyrotoxicosis patients is estimated at around 1/50, whereas it is estimated at 1-2/1,000 among non-asian thyrotoxicosis patients.clinical descriptiontpp manifests as recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. recovery occurs within 2-72 hours. attacks typically occur at night and may be preceded by muscle cramps, aches and stiffness. ocular, bulbar and respiratory involvement has also been reported but is rare. attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. episodes only occur when patients are thyrotoxic but symptoms and classical signs of hyperthyroidism are often absent at the time of the first attack. tpp can occur in association with any cause of hyperthyroidism, but is most commonly associated with graves' disease.etiologythe pathogenesis remains unclear. genetic predisposition is thought to play a role in the pathogenesis of tpp and single nucleotide polymorphisms (snps) of the cacna1s (1q32) and gabra3 (xq28) genes have been associated with tpp susceptibility in some asian populations. hypokalemia is the consequence of an extra- to intracellular potassium shift due to an increase in na/k-atpase pump activity, either as a direct response to thyroid hormone or indirectly via adrenergic stimulation, insulin or exercise.diagnostic methodsbiochemical studies are essential for diagnosis, with mild-to-severe thyrotoxicosis and hypokalemia during attacks being the major findings. other anomalies may include hypophosphatemia and hypomagnesemia, without changes in acid-base balance. emg reveals myopathic changes during attacks and muscle excitability anomalies after a prolonged exercise test. ecg anomalies are also noted. thyrotoxicosis is the key finding for distinguishing tpp from other causes of hypokalemic periodic paralysis (hop), such as familial hop (fhop; see this term), and from other hypokalemic disorders with a transcellular potassium shift, and excessive renal potassium wasting or gastrointestinal losses.differential diagnosisthe differential diagnosis may also include guillain-barré syndrome, transverse myelitis (see these terms), spinal cord compression and hysteria, as well as muscle weakness and fatigue associated with hyperthyroidism in patients with thyrotoxic myopathy or myasthenia gravis (see this term).genetic counselingtpp usually occurs sporadicallymanagement and treatmentmanagement of tpp includes definitive control of hyperthyroidism, prevention of attacks with propranolol and avoidance of precipitating factors. potassium administration during attacks may prevent cardiac arrhythmias and hasten the recovery from paralysis.prognosisthe prognosis for patients is good and tpp resolves when euthyroid status is achieved.visit the orphanet disease page for more resources. last updated: 3/25/2009

MalaCards based summary : Thyrotoxic Periodic Paralysis, also known as thyrotoxic hypokalemic periodic paralysis, is related to thyrotoxic periodic paralysis 1 and thyrotoxic periodic paralysis 2, and has symptoms including periodic hypokalemic paresis, episodic hypokalemia and hyperhidrosis. An important gene associated with Thyrotoxic Periodic Paralysis is KCNJ18 (Potassium Voltage-Gated Channel Subfamily J Member 18), and among its related pathways/superpathways are Vascular smooth muscle contraction and Cardiac conduction. The drugs Antibodies and calcitonin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and heart, and related phenotype is muscle.

Wikipedia : 72 Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence... more...

Related Diseases for Thyrotoxic Periodic Paralysis

Graphical network of the top 20 diseases related to Thyrotoxic Periodic Paralysis:



Diseases related to Thyrotoxic Periodic Paralysis

Symptoms & Phenotypes for Thyrotoxic Periodic Paralysis

Human phenotypes related to Thyrotoxic Periodic Paralysis:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periodic hypokalemic paresis 56 32 obligate (100%) Obligate (100%) HP:0008153
2 episodic hypokalemia 56 32 obligate (100%) Obligate (100%) HP:0012726
3 hyperhidrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000975
4 obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001513
5 palpitations 56 32 hallmark (90%) Very frequent (99-80%) HP:0001962
6 tetraplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002445
7 hypomagnesemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002917
8 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
9 episodic flaccid weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0003752
10 lower limb muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0007340
11 mildly elevated creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0008180
12 transient hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008285
13 thyrotoxicosis with toxic multinodular goitre 56 32 hallmark (90%) Very frequent (99-80%) HP:0011785
14 thyrotoxicosis with toxic single thyroid nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0011786
15 increased intramyocellular lipid droplets 56 32 hallmark (90%) Very frequent (99-80%) HP:0012240
16 decreased urinary potassium 56 32 hallmark (90%) Very frequent (99-80%) HP:0012364
17 graves disease 56 32 hallmark (90%) Very frequent (99-80%) HP:0100647
18 urinary retention 56 32 frequent (33%) Frequent (79-30%) HP:0000016
19 hyporeflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001265
20 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
21 weight loss 56 32 frequent (33%) Frequent (79-30%) HP:0001824
22 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
23 rhabdomyolysis 56 32 frequent (33%) Frequent (79-30%) HP:0003201
24 muscle cramps 56 32 frequent (33%) Frequent (79-30%) HP:0003394
25 muscle stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0003552
26 exercise-induced muscle fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0009020
27 postprandial hyperglycemia 56 32 frequent (33%) Frequent (79-30%) HP:0011998
28 prolonged qt interval 56 32 occasional (7.5%) Occasional (29-5%) HP:0001657
29 ventricular fibrillation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001663
30 late-onset proximal muscle weakness 56 32 occasional (7.5%) Occasional (29-5%) HP:0003694
31 shortened pr interval 56 32 occasional (7.5%) Occasional (29-5%) HP:0005165
32 second degree atrioventricular block 56 32 occasional (7.5%) Occasional (29-5%) HP:0011706
33 ophthalmoparesis 56 32 very rare (1%) Very rare (<4-1%) HP:0000597
34 hyperkalemia 56 32 very rare (1%) Very rare (<4-1%) HP:0002153
35 respiratory paralysis 56 32 very rare (1%) Very rare (<4-1%) HP:0002203
36 hyperthyroidism 56 Obligate (100%)
37 paralysis 56 Very frequent (99-80%)
38 abnormality of muscle fibers 56 Very frequent (99-80%)
39 thyrotoxicosis with diffuse goiter 56 Very frequent (99-80%)
40 myotonia 56 Excluded (0%)
41 abnormality of peripheral nerve conduction 56 Excluded (0%)
42 impaired myocardial contractility 56 Excluded (0%)

MGI Mouse Phenotypes related to Thyrotoxic Periodic Paralysis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ADRB2 ATP1A1 ATP1A2 ATP1B1 CACNA1S KCNJ2

Drugs & Therapeutics for Thyrotoxic Periodic Paralysis

Drugs for Thyrotoxic Periodic Paralysis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 calcitonin
3 Immunoglobulins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
2 Genetic Analysis of Thyrotoxic Periodic Paralysis Completed NCT00443833

Search NIH Clinical Center for Thyrotoxic Periodic Paralysis

Genetic Tests for Thyrotoxic Periodic Paralysis

Genetic tests related to Thyrotoxic Periodic Paralysis:

id Genetic test Affiliating Genes
1 Thyrotoxic Periodic Paralysis 29

Anatomical Context for Thyrotoxic Periodic Paralysis

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis:

39
Thyroid, Testes, Heart, Spinal Cord, Skeletal Muscle, Pituitary, Colon

Publications for Thyrotoxic Periodic Paralysis

Articles related to Thyrotoxic Periodic Paralysis:

(show top 50) (show all 240)
id Title Authors Year
1
Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis. ( 28131627 )
2017
2
Paralysis that easily reverses: a case of thyrotoxic periodic paralysis. ( 28137907 )
2017
3
A rare cause of thyrotoxic periodic paralysis: liquorice consumption. ( 28258118 )
2017
4
Thyrotoxic periodic paralysis as an initial presentation of Graves' disease in a Saudi patient. ( 28630226 )
2017
5
Thyrotoxic periodic paralysis: A case report. ( 28293157 )
2017
6
Thyrotoxic periodic paralysis: a case study and review of the literature. ( 28638574 )
2017
7
Steroid-induced thyrotoxic periodic paralysis during Graves' ophthalmopathy treatment. ( 27566533 )
2016
8
Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease. ( 26676335 )
2016
9
Thyrotoxic periodic paralysis: The immovable truth? A concise review of the literature. ( 27041083 )
2016
10
Is thyrotoxic periodic paralysis a disease caused by muscle membrane dysfunction? ( 28006864 )
2016
11
Thyrotoxic periodic paralysis. ( 27728745 )
2016
12
Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease. ( 28008586 )
2016
13
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms. ( 27008341 )
2016
14
Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis. ( 27955984 )
2016
15
Thyrotoxic periodic paralysis- A case report. ( 27728174 )
2016
16
A Case of Nonfatal Ventricular Arrhythmia Due to Thyrotoxic Periodic Paralysis in a Saudi Patient as an Initial Presentation of Graves' Disease. ( 26843815 )
2016
17
Thyrotoxic periodic paralysis-A case report. ( 27728198 )
2016
18
Thyrotoxic Periodic Paralysis: A Puzzling Case of Chest Pain and Weakness. ( 26817428 )
2016
19
Thyrotoxic periodic paralysis in long standing graves' disease: an unusual presentation with normokalemia. ( 25839004 )
2015
20
The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis. ( 25885757 )
2015
21
A case of thyrotoxic periodic paralysis with respiratory failure in an African American woman. ( 25934725 )
2015
22
Normokalemic thyrotoxic periodic paralysis with preserved reflexes- a unique case report. ( 25859483 )
2015
23
Thyrotoxic Periodic Paralysis: An Underdiagnosed and Under-recognized Condition. ( 26623197 )
2015
24
Size of quadriceps femoris may contribute to thyrotoxic periodic paralysis. ( 26519100 )
2015
25
A rare case of thyrotoxic periodic paralysis precipitated by hydrocortisone. ( 25810683 )
2015
26
A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent. ( 25346923 )
2014
27
Thyrotoxic periodic paralysis in a pediatric patient. ( 24378858 )
2014
28
Thyrotoxic periodic paralysis: an endocrine cause of paraparesis. ( 24906287 )
2014
29
Thyrotoxic periodic paralysis triggered by I^2-adrenergic bronchodilators. ( 24852589 )
2014
30
Evaluating the efficacy of primary treatment for graves' disease complicated by thyrotoxic periodic paralysis. ( 25147568 )
2014
31
THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY. ( 24742912 )
2014
32
Thyrotoxic periodic paralysis: clinical challenges. ( 24695373 )
2014
33
IN REPLY TO "THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY". ( 25227641 )
2014
34
Hypokalemia in thyrotoxic periodic paralysis: implication for nephrology practice. ( 24902491 )
2014
35
Case of thyrotoxic periodic paralysis in a caucasian male and review of literature. ( 25484903 )
2014
36
IN REPLY TO "THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY". ( 24742350 )
2014
37
THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY. ( 25227640 )
2014
38
Thyrotoxic periodic paralysis: clinical and molecular aspects. ( 22918841 )
2013
39
Thyrotoxic periodic paralysis triggered by I^2-adrenergic bronchodilators. ( 23816145 )
2013
40
A rare case of thyrotoxic periodic paralysis with normokalemia. ( 23481615 )
2013
41
The predisposition to thyrotoxic periodic paralysis (TPP) is due to a genetic variant in the inward-rectifying potassium channel, KCNJ2. ( 23803013 )
2013
42
Three cases of thyrotoxic periodic paralysis due to painless thyroiditis. ( 24251144 )
2013
43
I Lost Weight, but I Became Weak and Cannot Walk-A Case of Nutraceutical (T3)-Induced Thyrotoxic Periodic Paralysis. ( 23567793 )
2013
44
Thyrotoxic periodic paralysis presenting with ventricular storm. ( 22809769 )
2013
45
Episodes of paralysis in Chinese men with thyrotoxic periodic paralysis are associated with elevated serum testosterone. ( 23405854 )
2013
46
Thyrotoxic Periodic Paralysis: Diversity in America. ( 24315723 )
2013
47
A 32-year-old Man with Normokalemic Thyrotoxic Periodic Paralysis. ( 23613659 )
2013
48
Complete heart block during potassium therapy in thyrotoxic periodic paralysis. ( 22221982 )
2013
49
Thyrotoxic periodic paralysis: correct hypokalemia with caution. ( 23849367 )
2013
50
Thyrotoxic periodic paralysis with Graves' disease leading to the discovery of a hidden nonclassic 11I^ hydroxylase deficiency. ( 23291679 )
2013

Variations for Thyrotoxic Periodic Paralysis

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ18 NM_001194958.2(KCNJ18): c.429delC (p.Ile144Serfs) deletion Pathogenic,risk factor rs527236153 GRCh38 Chromosome 17, 21703215: 21703215
2 KCNJ18 NM_001194958.2(KCNJ18): c.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic,risk factor rs527236158 GRCh38 Chromosome 17, 21703847: 21703847
3 KCNJ18 NM_001194958.2(KCNJ18): c.1097A> G (p.Lys366Arg) single nucleotide variant Pathogenic,risk factor rs527236159 GRCh38 Chromosome 17, 21703883: 21703883
4 CACNA1S NM_000069.2(CACNA1S): c.-476G> A single nucleotide variant risk factor rs2281845 GRCh37 Chromosome 1, 201081943: 201081943
5 CACNA1S NM_000069.2(CACNA1S): c.258+57G> A single nucleotide variant risk factor rs1325310 GRCh37 Chromosome 1, 201079235: 201079235
6 CACNA1S NM_000069.2(CACNA1S): c.3414+67A> G single nucleotide variant risk factor rs28986463 GRCh38 Chromosome 1, 201060591: 201060591
7 KCNJ18 NM_001194958.2(KCNJ18): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs527236151 GRCh38 Chromosome 17, 21702913: 21702913
8 KCNJ18 NM_001194958.2(KCNJ18): c.419C> T (p.Thr140Met) single nucleotide variant Pathogenic rs527236152 GRCh38 Chromosome 17, 21703205: 21703205
9 KCNJ18 NM_001194958.2(KCNJ18): c.502G> A (p.Val168Met) single nucleotide variant Pathogenic rs527236154 GRCh38 Chromosome 17, 21703288: 21703288
10 KCNJ18 NM_001194958.2(KCNJ18): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs527236155 GRCh38 Chromosome 17, 21703384: 21703384
11 KCNJ18 NM_001194958.2(KCNJ18): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs527236156 GRCh38 Chromosome 17, 21703981: 21703981
12 KCNJ18 NM_001194958.2(KCNJ18): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs527236157 GRCh38 Chromosome 17, 21704005: 21704005

Expression for Thyrotoxic Periodic Paralysis

Search GEO for disease gene expression data for Thyrotoxic Periodic Paralysis.

Pathways for Thyrotoxic Periodic Paralysis

Pathways related to Thyrotoxic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
2
Show member pathways
12.75 ATP1A1 ATP1A2 ATP1B1 ATP1B2 CACNA1S KCNJ2
3
Show member pathways
12.7 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
4
Show member pathways
12.56 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
5
Show member pathways
12.45 ATP1A1 ATP1A2 ATP1B1 ATP1B2 GABRA3
6
Show member pathways
12.39 ADRB2 ATP1B1 ATP1B2 CACNA1S
7
Show member pathways
12.31 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
8 12.15 CACNA1S KCNJ16 KCNJ2
9 12 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
10
Show member pathways
12 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
11
Show member pathways
11.91 GABRA3 KCNJ16 KCNJ2
12 11.9 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
13
Show member pathways
11.86 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
14 11.76 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
15 11.63 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
16 11.58 ADRB2 CACNA1S KCNJ2
17 11.58 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
18 11.53 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
19 11.5 ADRB2 ATP1A1 KCNJ2
20 11.45 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
21
Show member pathways
11.44 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
22 11.29 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
23 11.27 ADRB2 TSHR
24 11.15 ADRB2 TSHR
25 11.04 ATP1B1 ATP1B2
26 10.92 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4

GO Terms for Thyrotoxic Periodic Paralysis

Cellular components related to Thyrotoxic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.95 ADRB2 ATP1B4 GABRA3 KCNJ16 KCNJ18 KCNJ2
2 apical plasma membrane GO:0016324 9.81 ADRB2 ATP1A1 ATP1B1 ATP1B2
3 basolateral plasma membrane GO:0016323 9.78 ATP1A1 ATP1B1 KCNJ16 TSHR
4 myelin sheath GO:0043209 9.7 ATP1A1 ATP1A2 ATP1B1
5 caveola GO:0005901 9.67 ATP1A1 ATP1A2 ATP1B1
6 extracellular vesicle GO:1903561 9.63 ATP1A1 ATP1A2 ATP1B1
7 sarcolemma GO:0042383 9.5 ATP1A1 ATP1A2 ATP1B1
8 intercalated disc GO:0014704 9.46 ATP1A1 ATP1A2 ATP1B1 KCNJ2
9 T-tubule GO:0030315 9.26 ATP1A1 ATP1A2 CACNA1S KCNJ2
10 sodium:potassium-exchanging ATPase complex GO:0005890 9.02 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
11 membrane GO:0016020 10.21 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
12 plasma membrane GO:0005886 10.11 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 CACNA1S
13 integral component of membrane GO:0016021 10.03 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4

Biological processes related to Thyrotoxic Periodic Paralysis according to GeneCards Suite gene sharing:

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.97 ATP1A1 ATP1A2 ATP1B1 ATP1B2 GABRA3
2 ion transport GO:0006811 9.96 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
3 sodium ion transport GO:0006814 9.92 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
4 regulation of ion transmembrane transport GO:0034765 9.89 CACNA1S KCNJ16 KCNJ18 KCNJ2
5 regulation of cardiac conduction GO:1903779 9.86 ATP1A1 ATP1A2 ATP1B1 ATP1B2
6 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.8 ATP1A1 ATP1A2 ATP1B1 ATP1B2
7 cellular response to mechanical stimulus GO:0071260 9.79 ATP1A1 ATP1A2 KCNJ2
8 cellular sodium ion homeostasis GO:0006883 9.78 ATP1A1 ATP1A2 ATP1B1 ATP1B2
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.76 ATP1A1 ATP1A2 ATP1B1 ATP1B2
10 regulation of cardiac muscle cell contraction GO:0086004 9.74 ATP1A1 ATP1A2 KCNJ2
11 relaxation of cardiac muscle GO:0055119 9.73 ATP1A1 ATP1A2 ATP1B1 KCNJ2
12 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.72 ATP1A1 ATP1B1 KCNJ2
13 potassium ion import across plasma membrane GO:1990573 9.71 ATP1A1 ATP1A2 ATP1B1
14 membrane repolarization GO:0086009 9.71 ATP1A1 ATP1A2 ATP1B1 ATP1B2
15 cardiac conduction GO:0061337 9.67 CACNA1S KCNJ2
16 cardiac muscle contraction GO:0060048 9.67 ATP1A2 ATP1B1
17 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.67 ADRB2 TSHR
18 ATP hydrolysis coupled transmembrane transport GO:0090662 9.67 ATP1A1 ATP1A2 ATP1B1 ATP1B2
19 ATP metabolic process GO:0046034 9.66 ATP1A2 ATP1B1
20 activation of adenylate cyclase activity GO:0007190 9.66 ADRB2 TSHR
21 positive regulation of ATPase activity GO:0032781 9.65 ATP1B1 ATP1B2
22 regulation of the force of heart contraction GO:0002026 9.65 ATP1A1 ATP1A2
23 regulation of sodium ion transport GO:0002028 9.65 ADRB2 ATP1A1
24 regulation of smooth muscle contraction GO:0006940 9.64 ADRB2 ATP1A2
25 cardiac muscle cell action potential involved in contraction GO:0086002 9.64 ATP1A1 KCNJ2
26 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.63 ATP1A2 KCNJ2
27 cellular response to steroid hormone stimulus GO:0071383 9.63 ATP1A1 ATP1A2
28 negative regulation of heart contraction GO:0045822 9.62 ATP1A1 ATP1A2
29 sodium ion export from cell GO:0036376 9.62 ATP1A1 ATP1A2 ATP1B1 ATP1B2
30 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.61 ATP1B1 ATP1B2
31 response to glycoside GO:1903416 9.61 ATP1A1 ATP1A2
32 positive regulation of sodium ion export from cell GO:1903278 9.6 ATP1B1 ATP1B2
33 positive regulation of potassium ion import GO:1903288 9.58 ATP1B1 ATP1B2
34 potassium ion transport GO:0006813 9.56 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 KCNJ16
35 cellular potassium ion homeostasis GO:0030007 9.55 ATP1A1 ATP1A2 ATP1B1 ATP1B2 KCNJ2
36 potassium ion import GO:0010107 9.17 ATP1A1 ATP1A2 ATP1B1 ATP1B2 KCNJ16 KCNJ18
37 transport GO:0006810 10.21 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S

Molecular functions related to Thyrotoxic Periodic Paralysis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.62 CACNA1S KCNJ16 KCNJ18 KCNJ2
2 ATPase activator activity GO:0001671 9.43 ATP1B1 ATP1B2
3 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ16 KCNJ18 KCNJ2
4 G-protein activated inward rectifier potassium channel activity GO:0015467 9.4 KCNJ16 KCNJ2
5 steroid hormone binding GO:1990239 9.37 ATP1A1 ATP1A2
6 potassium ion binding GO:0030955 9.33 ATP1A1 ATP1A2 ATP1B1
7 sodium ion binding GO:0031402 9.13 ATP1A1 ATP1A2 ATP1B1
8 sodium:potassium-exchanging ATPase activity GO:0005391 8.92 ATP1A1 ATP1A2 ATP1B1 ATP1B2

Sources for Thyrotoxic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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