MCID: THY054
MIFTS: 53

Thyrotoxic Periodic Paralysis

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thyrotoxic Periodic Paralysis

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis:

Name: Thyrotoxic Periodic Paralysis 54 60 30 6 41 74
Thyrotoxic Hypokalemic Periodic Paralysis 60 38

Characteristics:

Orphanet epidemiological data:

60
thyrotoxic periodic paralysis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Thyrotoxic Periodic Paralysis

NIH Rare Diseases : 54 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.

MalaCards based summary : Thyrotoxic Periodic Paralysis, also known as thyrotoxic hypokalemic periodic paralysis, is related to thyrotoxic periodic paralysis 1 and hypokalemic periodic paralysis, type 1. 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 Aldosterone synthesis and secretion and Cardiac conduction. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and spinal cord, and related phenotypes are periodic hypokalemic paresis and episodic hypokalemia

Wikipedia : 77 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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periodic hypokalemic paresis 60 33 obligate (100%) Obligate (100%) HP:0008153
2 episodic hypokalemia 60 33 obligate (100%) Obligate (100%) HP:0012726
3 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
4 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
5 tetraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002445
6 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
7 episodic flaccid weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003752
8 increased intramyocellular lipid droplets 60 33 hallmark (90%) Very frequent (99-80%) HP:0012240
9 lower limb muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007340
10 graves disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0100647
11 decreased urinary potassium 60 33 hallmark (90%) Very frequent (99-80%) HP:0012364
12 hypomagnesemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002917
13 palpitations 60 33 hallmark (90%) Very frequent (99-80%) HP:0001962
14 transient hypophosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008285
15 thyrotoxicosis with toxic multinodular goitre 60 33 hallmark (90%) Very frequent (99-80%) HP:0011785
16 thyrotoxicosis with toxic single thyroid nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0011786
17 mildly elevated creatine kinase 33 hallmark (90%) HP:0008180
18 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
19 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
20 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
21 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
22 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
23 exercise-induced muscle fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0009020
24 postprandial hyperglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0011998
25 urinary retention 60 33 frequent (33%) Frequent (79-30%) HP:0000016
26 rhabdomyolysis 60 33 frequent (33%) Frequent (79-30%) HP:0003201
27 muscle spasm 33 frequent (33%) HP:0003394
28 prolonged qt interval 60 33 occasional (7.5%) Occasional (29-5%) HP:0001657
29 late-onset proximal muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003694
30 ventricular fibrillation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001663
31 second degree atrioventricular block 60 33 occasional (7.5%) Occasional (29-5%) HP:0011706
32 shortened pr interval 60 33 occasional (7.5%) Occasional (29-5%) HP:0005165
33 ophthalmoparesis 60 33 very rare (1%) Very rare (<4-1%) HP:0000597
34 respiratory paralysis 60 33 very rare (1%) Very rare (<4-1%) HP:0002203
35 hyperkalemia 60 33 very rare (1%) Very rare (<4-1%) HP:0002153
36 abnormality of peripheral nerve conduction 60 Excluded (0%)
37 myotonia 60 Excluded (0%)
38 hyperthyroidism 60 Obligate (100%)
39 muscle cramps 60 Frequent (79-30%)
40 paralysis 60 Very frequent (99-80%)
41 abnormality of muscle fibers 60 Very frequent (99-80%)
42 mildly elevated creatine phosphokinase 60 Very frequent (99-80%)
43 impaired myocardial contractility 60 Excluded (0%)
44 thyrotoxicosis with diffuse goiter 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Thyrotoxic Periodic Paralysis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ADRB2 ATP1A1 ATP1A2 ATP1B2 CACNA1S GABRA3
2 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Thyrotoxic Periodic Paralysis 30

Anatomical Context for Thyrotoxic Periodic Paralysis

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis:

42
Thyroid, Testes, Spinal Cord, Skeletal Muscle, Pituitary, Colon

Publications for Thyrotoxic Periodic Paralysis

Articles related to Thyrotoxic Periodic Paralysis:

(show top 50) (show all 262)
# Title Authors Year
1
Thyrotoxic periodic paralysis complicated by life-threatening acute hypercapnic respiratory failure in a Chinese male with painless thyroiditis. ( 30424987 )
2019
2
ANNALS EXPRESS: Does thyrotoxic periodic paralysis have a genetic predisposition? A case report. ( 29886759 )
2018
3
An atypical presentation of high potassium renal secretion rate in a patient with thyrotoxic periodic paralysis: a case report. ( 29973184 )
2018
4
Thyrotoxic Periodic Paralysis and Cardiomyopathy in a Patient with Graves' Disease. ( 30131930 )
2018
5
Lift Then Shift: Thyrotoxic Periodic Paralysis. ( 30201247 )
2018
6
Thyrotoxic periodic paralysis: case report and review of the literature. ( 30214699 )
2018
7
Hypokalemic thyrotoxic periodic paralysis. Report of one case. ( 30236802 )
2018
8
A Rare Case of Thyrotoxic Periodic Paralysis After Epidural Steroid Injection: A Case Report and Literature Review. ( 30531678 )
2018
9
Recognizing thyrotoxic hypokalemic periodic paralysis. ( 29278563 )
2018
10
Changing Management Guidelines in Thyrotoxic Hypokalemic Periodic Paralysis. ( 29871829 )
2018
11
Thyrotoxic Hypokalemic Periodic Paralysis. ( 29910553 )
2018
12
Thyrotoxic hypokalemic periodic paralysis. ( 30169664 )
2018
13
Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men. ( 30305000 )
2018
14
Thyrotoxic periodic paralysis as an initial presentation of Graves' disease in a Saudi patient. ( 28630226 )
2017
15
Thyrotoxic periodic paralysis: A case report. ( 28293157 )
2017
16
Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis. ( 28131627 )
2017
17
Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis. ( 29264532 )
2017
18
Thyrotoxic periodic paralysis: a case study and review of the literature. ( 28638574 )
2017
19
Thyrotoxic periodic paralysis: an unusual presentation of hyperthyroidism. ( 29219824 )
2017
20
Paralysis that easily reverses: a case of thyrotoxic periodic paralysis. ( 28137907 )
2017
21
A rare cause of thyrotoxic periodic paralysis: liquorice consumption. ( 28258118 )
2017
22
Normokalemic Thyrotoxic Periodic Paralysis with Acute Resolution in the Emergency Department. ( 29849397 )
2017
23
Is thyrotoxic periodic paralysis a disease caused by muscle membrane dysfunction? ( 28006864 )
2016
24
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
25
Thyrotoxic periodic paralysis- A case report. ( 27728174 )
2016
26
Thyrotoxic periodic paralysis-A case report. ( 27728198 )
2016
27
Thyrotoxic periodic paralysis. ( 27728745 )
2016
28
Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease. ( 28008586 )
2016
29
Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease. ( 26676335 )
2016
30
A Case of Nonfatal Ventricular Arrhythmia Due to Thyrotoxic Periodic Paralysis in a Saudi Patient as an Initial Presentation of Graves' Disease. ( 26843815 )
2016
31
Thyrotoxic periodic paralysis: The immovable truth? A concise review of the literature. ( 27041083 )
2016
32
Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis. ( 27955984 )
2016
33
Steroid-induced thyrotoxic periodic paralysis during Graves' ophthalmopathy treatment. ( 27566533 )
2016
34
Thyrotoxic Periodic Paralysis: A Puzzling Case of Chest Pain and Weakness. ( 26817428 )
2016
35
Thyrotoxic hypokalemic periodic paralysis. ( 27318366 )
2016
36
Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG. ( 27394710 )
2016
37
Normokalemic thyrotoxic periodic paralysis with preserved reflexes- a unique case report. ( 25859483 )
2015
38
A case of thyrotoxic periodic paralysis with respiratory failure in an African American woman. ( 25934725 )
2015
39
Thyrotoxic Periodic Paralysis: An Underdiagnosed and Under-recognized Condition. ( 26623197 )
2015
40
Thyrotoxic periodic paralysis in long standing graves' disease: an unusual presentation with normokalemia. ( 25839004 )
2015
41
The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis. ( 25885757 )
2015
42
A rare case of thyrotoxic periodic paralysis precipitated by hydrocortisone. ( 25810683 )
2015
43
Size of quadriceps femoris may contribute to thyrotoxic periodic paralysis. ( 26519100 )
2015
44
THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY. ( 24742912 )
2014
45
Thyrotoxic periodic paralysis: an endocrine cause of paraparesis. ( 24906287 )
2014
46
Case of thyrotoxic periodic paralysis in a caucasian male and review of literature. ( 25484903 )
2014
47
Thyrotoxic periodic paralysis: clinical challenges. ( 24695373 )
2014
48
Thyrotoxic periodic paralysis triggered by I^2-adrenergic bronchodilators. ( 24852589 )
2014
49
Hypokalemia in thyrotoxic periodic paralysis: implication for nephrology practice. ( 24902491 )
2014
50
Evaluating the efficacy of primary treatment for graves' disease complicated by thyrotoxic periodic paralysis. ( 25147568 )
2014

Variations for Thyrotoxic Periodic Paralysis

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis:

6 (show all 23)
# 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.1061C> T (p.Thr354Met) single nucleotide variant Pathogenic,risk factor rs527236158 GRCh37 Chromosome 17, 356212: 356212
4 KCNJ18 NM_001194958.2(KCNJ18): c.1097A> G (p.Lys366Arg) single nucleotide variant Pathogenic,risk factor rs527236159 GRCh38 Chromosome 17, 21703883: 21703883
5 KCNJ18 NM_001194958.2(KCNJ18): c.1097A> G (p.Lys366Arg) single nucleotide variant Pathogenic,risk factor rs527236159 GRCh37 Chromosome 17, 356248: 356248
6 CACNA1S NM_000069.2(CACNA1S): c.-476G> A single nucleotide variant risk factor rs2281845 GRCh37 Chromosome 1, 201081943: 201081943
7 CACNA1S NM_000069.2(CACNA1S): c.-476G> A single nucleotide variant risk factor rs2281845 GRCh38 Chromosome 1, 201112815: 201112815
8 CACNA1S NM_000069.2(CACNA1S): c.258+57G> A single nucleotide variant risk factor rs1325310 GRCh37 Chromosome 1, 201079235: 201079235
9 CACNA1S NM_000069.2(CACNA1S): c.258+57G> A single nucleotide variant risk factor rs1325310 GRCh38 Chromosome 1, 201110107: 201110107
10 CACNA1S NM_000069.2(CACNA1S): c.3414+67A> G single nucleotide variant risk factor rs28986463 GRCh38 Chromosome 1, 201060591: 201060591
11 CACNA1S NM_000069.2(CACNA1S): c.3414+67A> G single nucleotide variant risk factor rs28986463 GRCh37 Chromosome 1, 201029719: 201029719
12 KCNJ18 NM_001194958.2(KCNJ18): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs527236151 GRCh38 Chromosome 17, 21702913: 21702913
13 KCNJ18 NM_001194958.2(KCNJ18): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs527236151 GRCh37 Chromosome 17, 355278: 355278
14 KCNJ18 NM_001194958.2(KCNJ18): c.419C> T (p.Thr140Met) single nucleotide variant Pathogenic rs527236152 GRCh37 Chromosome 17, 355570: 355570
15 KCNJ18 NM_001194958.2(KCNJ18): c.419C> T (p.Thr140Met) single nucleotide variant Pathogenic rs527236152 GRCh38 Chromosome 17, 21703205: 21703205
16 KCNJ18 NM_001194958.2(KCNJ18): c.502G> A (p.Val168Met) single nucleotide variant Pathogenic rs527236154 GRCh37 Chromosome 17, 355653: 355653
17 KCNJ18 NM_001194958.2(KCNJ18): c.502G> A (p.Val168Met) single nucleotide variant Pathogenic rs527236154 GRCh38 Chromosome 17, 21703288: 21703288
18 KCNJ18 NM_001194958.2(KCNJ18): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs527236155 GRCh37 Chromosome 17, 355749: 355749
19 KCNJ18 NM_001194958.2(KCNJ18): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs527236155 GRCh38 Chromosome 17, 21703384: 21703384
20 KCNJ18 NM_001194958.2(KCNJ18): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs527236156 GRCh37 Chromosome 17, 356346: 356346
21 KCNJ18 NM_001194958.2(KCNJ18): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs527236156 GRCh38 Chromosome 17, 21703981: 21703981
22 KCNJ18 NM_001194958.2(KCNJ18): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs527236157 GRCh37 Chromosome 17, 356370: 356370
23 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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 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
12.62 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
5
Show member pathways
12.56 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
6
Show member pathways
12.45 ATP1A1 ATP1A2 ATP1B1 ATP1B2 GABRA3
7
Show member pathways
12.39 ADRB2 ATP1B1 ATP1B2 CACNA1S
8 12.15 CACNA1S KCNJ16 KCNJ2
9
Show member pathways
12.03 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
10 12 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
11
Show member pathways
11.91 GABRA3 KCNJ16 KCNJ2
12 11.91 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
13 11.88 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
14 11.77 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
15 11.63 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
16 11.61 ADRB2 CACNA1S KCNJ2
17 11.6 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
18 11.56 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
19 11.5 ADRB2 ATP1A1 KCNJ2
20 11.47 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 12)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.8 ADRB2 ATP1A1 ATP1B1 ATP1B2
2 basolateral plasma membrane GO:0016323 9.71 ATP1A1 ATP1B1 KCNJ16 TSHR
3 myelin sheath GO:0043209 9.69 ATP1A1 ATP1A2 ATP1B1
4 caveola GO:0005901 9.63 ATP1A1 ATP1A2 ATP1B1
5 sarcolemma GO:0042383 9.62 ATP1A1 ATP1A2 ATP1B1 CACNA1S
6 extracellular vesicle GO:1903561 9.61 ATP1A1 ATP1A2 ATP1B1
7 intercalated disc GO:0014704 9.46 ATP1A1 ATP1A2 ATP1B1 KCNJ2
8 T-tubule GO:0030315 9.26 ATP1A1 ATP1A2 CACNA1S KCNJ2
9 sodium:potassium-exchanging ATPase complex GO:0005890 9.02 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
10 membrane GO:0016020 10.26 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
11 plasma membrane GO:0005886 10.11 ADRB2 ATP1A1 ATP1A2 ATP1B1 ATP1B2 CACNA1S
12 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 31)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.89 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
2 ion transport GO:0006811 9.85 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
3 regulation of ion transmembrane transport GO:0034765 9.84 CACNA1S KCNJ16 KCNJ18 KCNJ2
4 cellular sodium ion homeostasis GO:0006883 9.78 ATP1A1 ATP1A2 ATP1B1 ATP1B2
5 cellular response to mechanical stimulus GO:0071260 9.76 ATP1A1 ATP1A2 KCNJ2
6 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.76 ATP1A1 ATP1A2 ATP1B1 ATP1B2
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.73 ATP1A1 ATP1A2 ATP1B1 ATP1B2
8 sodium ion export across plasma membrane GO:0036376 9.71 ATP1A1 ATP1A2 ATP1B1 ATP1B2
9 regulation of cardiac muscle cell contraction GO:0086004 9.7 ATP1A1 ATP1A2 KCNJ2
10 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.69 ATP1A1 ATP1B1 KCNJ2
11 relaxation of cardiac muscle GO:0055119 9.67 ATP1A1 ATP1A2 ATP1B1 KCNJ2
12 cardiac muscle contraction GO:0060048 9.65 ATP1A2 ATP1B1
13 positive regulation of ATPase activity GO:0032781 9.65 ATP1B1 ATP1B2
14 cellular potassium ion homeostasis GO:0030007 9.65 ATP1A1 ATP1A2 ATP1B1 ATP1B2 KCNJ2
15 ATP metabolic process GO:0046034 9.64 ATP1A2 ATP1B1
16 activation of adenylate cyclase activity GO:0007190 9.64 ADRB2 TSHR
17 ATP hydrolysis coupled proton transport GO:0015991 9.63 ATP1A1 ATP1A2
18 regulation of the force of heart contraction GO:0002026 9.63 ATP1A1 ATP1A2
19 regulation of smooth muscle contraction GO:0006940 9.62 ADRB2 ATP1A2
20 regulation of sodium ion transport GO:0002028 9.62 ADRB2 ATP1A1
21 membrane repolarization GO:0086009 9.62 ATP1A1 ATP1A2 ATP1B1 ATP1B2
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 ATP1A1 KCNJ2
23 cellular response to steroid hormone stimulus GO:0071383 9.61 ATP1A1 ATP1A2
24 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.6 ATP1A2 KCNJ2
25 negative regulation of heart contraction GO:0045822 9.59 ATP1A1 ATP1A2
26 positive regulation of potassium ion import GO:1903288 9.58 ATP1B1 ATP1B2
27 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.57 ATP1B1 ATP1B2
28 positive regulation of sodium ion export across plasma membrane GO:1903278 9.56 ATP1B1 ATP1B2
29 potassium ion transport GO:0006813 9.56 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 KCNJ16
30 response to glycoside GO:1903416 9.55 ATP1A1 ATP1A2
31 potassium ion import across plasma membrane GO:1990573 9.17 ATP1A1 ATP1A2 ATP1B1 ATP1B2 KCNJ16 KCNJ18

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

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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