MCID: THY054
MIFTS: 53

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 53 59 29 6 40 73
Thyrotoxic Hypokalemic Periodic Paralysis 59 37

Characteristics:

Orphanet epidemiological data:

59
thyrotoxic periodic paralysis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Thyrotoxic Periodic Paralysis

NIH Rare Diseases : 53 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 calcitonin and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and heart, and related phenotypes are periodic hypokalemic paresis and episodic hypokalemia

Wikipedia : 76 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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 periodic hypokalemic paresis 59 32 obligate (100%) Obligate (100%) HP:0008153
2 episodic hypokalemia 59 32 obligate (100%) Obligate (100%) HP:0012726
3 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
4 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
5 palpitations 59 32 hallmark (90%) Very frequent (99-80%) HP:0001962
6 tetraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002445
7 hypomagnesemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002917
8 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
9 episodic flaccid weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003752
10 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
11 mildly elevated creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0008180
12 transient hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008285
13 thyrotoxicosis with toxic multinodular goitre 59 32 hallmark (90%) Very frequent (99-80%) HP:0011785
14 thyrotoxicosis with toxic single thyroid nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0011786
15 increased intramyocellular lipid droplets 59 32 hallmark (90%) Very frequent (99-80%) HP:0012240
16 decreased urinary potassium 59 32 hallmark (90%) Very frequent (99-80%) HP:0012364
17 graves disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0100647
18 urinary retention 59 32 frequent (33%) Frequent (79-30%) HP:0000016
19 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
20 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
21 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
22 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
23 rhabdomyolysis 59 32 frequent (33%) Frequent (79-30%) HP:0003201
24 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
25 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
26 exercise-induced muscle fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0009020
27 postprandial hyperglycemia 59 32 frequent (33%) Frequent (79-30%) HP:0011998
28 prolonged qt interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0001657
29 ventricular fibrillation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001663
30 late-onset proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003694
31 shortened pr interval 59 32 occasional (7.5%) Occasional (29-5%) HP:0005165
32 second degree atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0011706
33 ophthalmoparesis 59 32 very rare (1%) Very rare (<4-1%) HP:0000597
34 hyperkalemia 59 32 very rare (1%) Very rare (<4-1%) HP:0002153
35 respiratory paralysis 59 32 very rare (1%) Very rare (<4-1%) HP:0002203
36 hyperthyroidism 59 Obligate (100%)
37 paralysis 59 Very frequent (99-80%)
38 abnormality of muscle fibers 59 Very frequent (99-80%)
39 thyrotoxicosis with diffuse goiter 59 Very frequent (99-80%)
40 myotonia 59 Excluded (0%)
41 abnormality of peripheral nerve conduction 59 Excluded (0%)
42 impaired myocardial contractility 59 Excluded (0%)

MGI Mouse Phenotypes related to Thyrotoxic Periodic Paralysis:

46
# 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 calcitonin
2 Antibodies
3 Immunoglobulins

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 29 CACNA1S

Anatomical Context for Thyrotoxic Periodic Paralysis

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis:

41
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 244)
# Title Authors Year
1
ANNALS EXPRESS: Does thyrotoxic periodic paralysis have a genetic predisposition? A case report. ( 29886759 )
2018
2
An atypical presentation of high potassium renal secretion rate in a patient with thyrotoxic periodic paralysis: a case report. ( 29973184 )
2018
3
Thyrotoxic periodic paralysis as an initial presentation of Graves' disease in a Saudi patient. ( 28630226 )
2017
4
Thyrotoxic periodic paralysis: A case report. ( 28293157 )
2017
5
Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis. ( 28131627 )
2017
6
Novel lincRNA Susceptibility Gene and Its Role in Etiopathogenesis of Thyrotoxic Periodic Paralysis. ( 29264532 )
2017
7
Thyrotoxic periodic paralysis: a case study and review of the literature. ( 28638574 )
2017
8
Thyrotoxic periodic paralysis: an unusual presentation of hyperthyroidism. ( 29219824 )
2017
9
Paralysis that easily reverses: a case of thyrotoxic periodic paralysis. ( 28137907 )
2017
10
A rare cause of thyrotoxic periodic paralysis: liquorice consumption. ( 28258118 )
2017
11
Normokalemic Thyrotoxic Periodic Paralysis with Acute Resolution in the Emergency Department. ( 29849397 )
2017
12
Is thyrotoxic periodic paralysis a disease caused by muscle membrane dysfunction? ( 28006864 )
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
Thyrotoxic periodic paralysis- A case report. ( 27728174 )
2016
15
Thyrotoxic periodic paralysis-A case report. ( 27728198 )
2016
16
Thyrotoxic periodic paralysis. ( 27728745 )
2016
17
Association of KCNJ2 Genetic Variants with Susceptibility to Thyrotoxic Periodic Paralysis in Patients with Graves' Disease. ( 28008586 )
2016
18
Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease. ( 26676335 )
2016
19
A Case of Nonfatal Ventricular Arrhythmia Due to Thyrotoxic Periodic Paralysis in a Saudi Patient as an Initial Presentation of Graves' Disease. ( 26843815 )
2016
20
Thyrotoxic periodic paralysis: The immovable truth? A concise review of the literature. ( 27041083 )
2016
21
Lower-Extremity Weakness in a Teenager Due to Thyrotoxic Periodic Paralysis. ( 27955984 )
2016
22
Steroid-induced thyrotoxic periodic paralysis during Graves' ophthalmopathy treatment. ( 27566533 )
2016
23
Thyrotoxic Periodic Paralysis: A Puzzling Case of Chest Pain and Weakness. ( 26817428 )
2016
24
Normokalemic thyrotoxic periodic paralysis with preserved reflexes- a unique case report. ( 25859483 )
2015
25
A case of thyrotoxic periodic paralysis with respiratory failure in an African American woman. ( 25934725 )
2015
26
Thyrotoxic Periodic Paralysis: An Underdiagnosed and Under-recognized Condition. ( 26623197 )
2015
27
Thyrotoxic periodic paralysis in long standing graves' disease: an unusual presentation with normokalemia. ( 25839004 )
2015
28
The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis. ( 25885757 )
2015
29
A rare case of thyrotoxic periodic paralysis precipitated by hydrocortisone. ( 25810683 )
2015
30
Size of quadriceps femoris may contribute to thyrotoxic periodic paralysis. ( 26519100 )
2015
31
THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY. ( 24742912 )
2014
32
Thyrotoxic periodic paralysis: an endocrine cause of paraparesis. ( 24906287 )
2014
33
Case of thyrotoxic periodic paralysis in a caucasian male and review of literature. ( 25484903 )
2014
34
Thyrotoxic periodic paralysis: clinical challenges. ( 24695373 )
2014
35
Thyrotoxic periodic paralysis triggered by I^2-adrenergic bronchodilators. ( 24852589 )
2014
36
Hypokalemia in thyrotoxic periodic paralysis: implication for nephrology practice. ( 24902491 )
2014
37
Evaluating the efficacy of primary treatment for graves' disease complicated by thyrotoxic periodic paralysis. ( 25147568 )
2014
38
A case of thyrotoxic periodic paralysis as initial manifestation of Graves' disease in a 16-year-old Korean adolescent. ( 25346923 )
2014
39
Thyrotoxic periodic paralysis in a pediatric patient. ( 24378858 )
2014
40
IN REPLY TO &amp;quot;THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY&amp;quot;. ( 24742350 )
2014
41
THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY. ( 25227640 )
2014
42
IN REPLY TO &amp;quot;THYROTOXIC PERIODIC PARALYSIS, I^2-ADRENERGIC BRONCHODILATOR, AND INSULIN-AN INTERESTING INTERPLAY&amp;quot;. ( 25227641 )
2014
43
Thyrotoxic periodic paralysis triggered by I^2-adrenergic bronchodilators. ( 23816145 )
2013
44
The predisposition to thyrotoxic periodic paralysis (TPP) is due to a genetic variant in the inward-rectifying potassium channel, KCNJ2. ( 23803013 )
2013
45
A 32-year-old Man with Normokalemic Thyrotoxic Periodic Paralysis. ( 23613659 )
2013
46
Thyrotoxic Periodic Paralysis: Diversity in America. ( 24315723 )
2013
47
Three cases of thyrotoxic periodic paralysis due to painless thyroiditis. ( 24251144 )
2013
48
Episodes of paralysis in Chinese men with thyrotoxic periodic paralysis are associated with elevated serum testosterone. ( 23405854 )
2013
49
Thyrotoxic periodic paralysis: clinical and molecular aspects. ( 22918841 )
2013
50
A 10-year analysis of thyrotoxic periodic paralysis in 135 patients: focus on symptomatology and precipitants. ( 23939916 )
2013

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 GRCh37 Chromosome 17, 355278: 355278
13 KCNJ18 NM_001194958.2(KCNJ18): c.127C> T (p.Arg43Cys) single nucleotide variant Pathogenic rs527236151 GRCh38 Chromosome 17, 21702913: 21702913
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
12.97 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
12.61 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 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 11.74 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)
# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.81 ADRB2 ATP1A1 ATP1B1 ATP1B2
2 basolateral plasma membrane GO:0016323 9.71 ATP1A1 ATP1B1 KCNJ16 TSHR
3 myelin sheath GO:0043209 9.7 ATP1A1 ATP1A2 ATP1B1
4 caveola GO:0005901 9.65 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 10.27 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
13 integral component of plasma membrane GO:0005887 10 ADRB2 ATP1B4 GABRA3 KCNJ16 KCNJ18 KCNJ2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.97 ATP1A1 ATP1A2 ATP1B1 ATP1B2 GABRA3 KCNJ16
2 ion transport GO:0006811 9.96 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 CACNA1S
3 sodium ion transport GO:0006814 9.91 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
4 regulation of ion transmembrane transport GO:0034765 9.87 CACNA1S KCNJ16 KCNJ18 KCNJ2
5 regulation of cardiac conduction GO:1903779 9.85 ATP1A1 ATP1A2 ATP1B1 ATP1B2
6 cellular response to mechanical stimulus GO:0071260 9.78 ATP1A1 ATP1A2 KCNJ2
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.78 ATP1A1 ATP1A2 ATP1B1 ATP1B2
8 cellular sodium ion homeostasis GO:0006883 9.77 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
9 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.76 ATP1A1 ATP1A2 ATP1B1 ATP1B2
10 potassium ion transport GO:0006813 9.76 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 KCNJ16
11 regulation of cardiac muscle cell contraction GO:0086004 9.73 ATP1A1 ATP1A2 KCNJ2
12 relaxation of cardiac muscle GO:0055119 9.73 ATP1A1 ATP1A2 ATP1B1 KCNJ2
13 sodium ion export across plasma membrane GO:0036376 9.72 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.71 ATP1A1 ATP1B1 KCNJ2
15 membrane repolarization GO:0086009 9.71 ATP1A1 ATP1A2 ATP1B1 ATP1B2
16 potassium ion import across plasma membrane GO:1990573 9.7 ATP1A1 ATP1A2 ATP1B1
17 ATP metabolic process GO:0046034 9.66 ATP1A2 ATP1B1
18 positive regulation of ATPase activity GO:0032781 9.65 ATP1B1 ATP1B2
19 activation of adenylate cyclase activity GO:0007190 9.65 ADRB2 TSHR
20 ATP hydrolysis coupled proton transport GO:0015991 9.65 ATP1A1 ATP1A2
21 regulation of sodium ion transport GO:0002028 9.64 ADRB2 ATP1A1
22 regulation of smooth muscle contraction GO:0006940 9.64 ADRB2 ATP1A2
23 regulation of the force of heart contraction GO:0002026 9.63 ATP1A1 ATP1A2
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.63 ATP1A1 KCNJ2
25 cellular response to steroid hormone stimulus GO:0071383 9.62 ATP1A1 ATP1A2
26 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.62 ATP1A2 KCNJ2
27 negative regulation of heart contraction GO:0045822 9.61 ATP1A1 ATP1A2
28 positive regulation of potassium ion transmembrane transporter activity GO:1901018 9.6 ATP1B1 ATP1B2
29 response to glycoside GO:1903416 9.59 ATP1A1 ATP1A2
30 positive regulation of sodium ion export across plasma membrane GO:1903278 9.58 ATP1B1 ATP1B2
31 positive regulation of potassium ion import GO:1903288 9.58 ATP1B1 ATP1B2
32 cellular potassium ion homeostasis GO:0030007 9.43 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 KCNJ2
33 potassium ion import GO:0010107 9.23 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4 KCNJ16

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 9.67 CACNA1S KCNJ16 KCNJ18 KCNJ2
2 ATPase activator activity GO:0001671 9.5 ATP1B1 ATP1B2 ATP1B4
3 G-protein activated inward rectifier potassium channel activity GO:0015467 9.43 KCNJ16 KCNJ2
4 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ16 KCNJ18 KCNJ2
5 steroid hormone binding GO:1990239 9.4 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 9.02 ATP1A1 ATP1A2 ATP1B1 ATP1B2 ATP1B4

Sources for Thyrotoxic Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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