TTPP2
MCID: THY083
MIFTS: 31

Thyrotoxic Periodic Paralysis 2 (TTPP2)

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

Aliases & Classifications for Thyrotoxic Periodic Paralysis 2

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis 2:

Name: Thyrotoxic Periodic Paralysis 2 56 73 29 6 39
Thyrotoxic Periodic Paralysis, Susceptibility to, 2 56 13
Ttpp2 56 73
Thyrotoxic Hypokalemic Periodic Paralysis 73
Tpp 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
more frequent in males
attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
attacks may present during or after sleep
usually occurs in young adulthood
muscle weakness occurs only in the presence of hyperthyroidism
more frequent in individuals of asian descent
complete recovery upon treatment of hyperthyroidism


HPO:

31
thyrotoxic periodic paralysis 2:
Inheritance autosomal dominant inheritance heterogeneous sporadic


Classifications:



Summaries for Thyrotoxic Periodic Paralysis 2

UniProtKB/Swiss-Prot : 73 Thyrotoxic periodic paralysis 2: A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease.

MalaCards based summary : Thyrotoxic Periodic Paralysis 2, also known as thyrotoxic periodic paralysis, susceptibility to, 2, is related to thyrotoxic periodic paralysis 1 and thyrotoxic periodic paralysis. An important gene associated with Thyrotoxic Periodic Paralysis 2 is KCNJ18 (Potassium Inwardly Rectifying Channel Subfamily J Member 18). Affiliated tissues include thyroid, and related phenotypes are muscle weakness and hypokalemia

More information from OMIM: 613239 PS188580

Related Diseases for Thyrotoxic Periodic Paralysis 2

Diseases in the Thyrotoxic Periodic Paralysis family:

Thyrotoxic Periodic Paralysis 1 Thyrotoxic Periodic Paralysis 2
Thyrotoxic Periodic Paralysis 3

Diseases related to Thyrotoxic Periodic Paralysis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 thyrotoxic periodic paralysis 1 12.6
2 thyrotoxic periodic paralysis 12.1
3 thiamine metabolism dysfunction syndrome 5 11.4
4 hypokalemic periodic paralysis, type 1 11.1
5 periodic paralysis 11.1
6 hypokalemia 10.9
7 graves disease 1 10.9
8 hyperthyroidism 10.9
9 graves' disease 10.8
10 goiter 10.5
11 quadriplegia 10.4
12 tremor 10.4
13 glioma 10.3
14 glial tumor 10.3
15 andersen cardiodysrhythmic periodic paralysis 10.2
16 myasthenia gravis 10.2
17 stroke, ischemic 10.2
18 branchiootic syndrome 1 10.2
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
21 hypophosphatemia 10.2
22 familial periodic paralysis 10.2
23 hypothyroidism 10.2
24 hyperinsulinism 10.2
25 transient cerebral ischemia 10.2
26 papillary carcinoma 10.2
27 myopathy 10.2
28 thyroiditis 10.2
29 pathologic nystagmus 10.2
30 familial periodic paralyses 10.2
31 periodic paralyses 10.2
32 beriberi 10.2
33 neuronal ceroid lipofuscinosis 10.2
34 hepatocellular carcinoma 10.1
35 helix syndrome 10.1
36 early-onset parkinson's disease 10.1
37 colon adenocarcinoma 10.1
38 autoimmune disease 10.0
39 colorectal cancer 10.0
40 hand skill, relative 10.0
41 huntington disease 10.0
42 parkinson disease, late-onset 10.0
43 phosphatase, acid, of tissues 10.0
44 prostate cancer 10.0
45 triiodothyronine receptor auxiliary protein 10.0
46 ceroid lipofuscinosis, neuronal, 2 10.0
47 ceroid storage disease 10.0
48 pyruvate carboxylase deficiency 10.0
49 prostatic hyperplasia, benign 10.0
50 neuronal ceroid-lipofuscinoses 10.0

Graphical network of the top 20 diseases related to Thyrotoxic Periodic Paralysis 2:



Diseases related to Thyrotoxic Periodic Paralysis 2

Symptoms & Phenotypes for Thyrotoxic Periodic Paralysis 2

Human phenotypes related to Thyrotoxic Periodic Paralysis 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 hypokalemia 31 HP:0002900
3 weight loss 31 HP:0001824
4 hyperthyroidism 31 HP:0000836
5 goiter 31 HP:0000853
6 tachycardia 31 HP:0001649
7 periodic paralysis 31 HP:0003768
8 palpitations 31 HP:0001962

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hyperthyroidism
goiter
enlarged thyroid gland

Growth Weight:
weight loss due to hyperthyroidism

Cardiovascular Vascular:
hypertension due to hyperthyroidism

Neurologic Central Nervous System:
tremor due to hyperthyroidism

Metabolic Features:
increased sweating due to hyperthyroidism

Cardiovascular Heart:
palpitations
tachycardia due to hyperthyroidism

Head And Neck Eyes:
exophthalmos due to hyperthyroidism

Muscle Soft Tissue:
muscle paralysis, episodic
muscle weakness, episodic
lower limbs more often affected
proximal muscles more often affected
recovery between attacks
more
Neurologic Peripheral Nervous System:
hypo- or areflexia during attacks

Laboratory Abnormalities:
hypokalemia during attacks
increased thyroid hormone
decreased tsh

Clinical features from OMIM:

613239

Drugs & Therapeutics for Thyrotoxic Periodic Paralysis 2

Search Clinical Trials , NIH Clinical Center for Thyrotoxic Periodic Paralysis 2

Genetic Tests for Thyrotoxic Periodic Paralysis 2

Genetic tests related to Thyrotoxic Periodic Paralysis 2:

# Genetic test Affiliating Genes
1 Thyrotoxic Periodic Paralysis 2 29 KCNJ18

Anatomical Context for Thyrotoxic Periodic Paralysis 2

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis 2:

40
Thyroid

Publications for Thyrotoxic Periodic Paralysis 2

Articles related to Thyrotoxic Periodic Paralysis 2:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. 56 6 61
20074522 2010
2
Stroke Mimic: A Case of Unilateral Thyrotoxic Hypokalemic Periodic Paralysis. 61
32064432 2020
3
A Case of Gitelman Syndrome that Was Difficult to Distinguish from Hypokalemic Periodic Paralysis Caused by Graves' Disease. 61
31105122 2019
4
Thyrotoxic Periodic Paralysis with Hypokalemia in an Adult Male from Nepal: A Case Report. 61
32335663 2019
5
Thyrotoxic hypokalemic periodic paralysis due to Graves' disease in 2 adolescents. 61
31261479 2019
6
Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men. 61
30305000 2019
7
Thyrotoxic hypokalemic periodic paralysis. 61
30169664 2018
8
Changing Management Guidelines in Thyrotoxic Hypokalemic Periodic Paralysis. 61
29871829 2018
9
Thyrotoxic Hypokalemic Periodic Paralysis. 61
29910553 2018
10
Recognizing thyrotoxic hypokalemic periodic paralysis. 61
29278563 2018
11
Thyrotoxic hypokalemic periodic paralysis. 61
27318366 2016
12
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. 61
27381127 2016
13
Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG. 61
27394710 2016
14
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 61
26252573 2015
15
Thyrotoxic Periodic Paralysis: An Underdiagnosed and Under-recognized Condition. 61
26623197 2015
16
Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman's syndrome. 61
25838649 2015
17
A case report of sudden-onset upper and lower extremity weakness. 61
25556330 2015
18
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. 61
25767707 2015
19
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. 61
25153560 2015
20
[Thyrotoxic hypokalemic periodic paralysis in patients of African descent]. 61
25372590 2014
21
Channelopathies. 61
24578711 2014
22
[Thyrotoxic hypokalemic periodic paralysis. A case report]. 61
24315080 2013
23
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. 61
24156178 2013
24
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. 61
23956568 2013
25
[A case report of thyrotoxic hypokalemic periodic paralysis]. 61
23568688 2013
26
[Thyrotoxic hypokalemic periodic paralysis: a rare complication of a common disease]. 61
23023021 2012
27
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. 61
22399142 2012
28
Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis. 61
22802996 2012
29
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. 61
22273473 2012
30
Hypokalemic paralysis following administration of intravenous methylprednisolone in a patient with Graves' thyrotoxicosis and ophthalmopathy. 61
22281888 2011
31
[The relationships between the single nueleotide polymorphisms of CACNA1S gene 11 exon and thyrotoxic hypokalemic periodic paralysis in the people of Han Nationality in Sichuan Province, China]. 61
21774221 2011
32
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. 61
20068442 2011
33
Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. 61
22111475 2011
34
Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. 61
21209095 2011
35
An unusual cause of muscle weakness: a diagnostic challenge. 61
21696105 2011
36
[Thyrotoxic hypokalemic periodic paralysis: report of one case]. 61
21279257 2010
37
Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights. 61
21340151 2010
38
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom in a young Ashkenazi Jewish man. 61
19960857 2009
39
Thyrotoxic hypokalemic periodic paralysis: a life-threatening syndrome. 61
19106719 2009
40
Thyrotoxic periodic paralysis complicated by acute hypercapnic respiratory failure and ventricular tachycardia. 61
19014279 2008
41
Periodic paralysis. 61
19185183 2008
42
Thyrotoxic hypokalemic periodic paralysis triggered by high carbohydrate diet. 61
17890941 2007
43
Thyrotoxic hypokalemic periodic paralysis: An overlooked pathology in western countries. 61
17693226 2007
44
Thyrotoxic periodic paralysis. A case report. 61
17966741 2007
45
Thyrotoxic hypokalemic periodic paralysis in a white man. 61
17524738 2007
46
Potassium chloride supplementation alone may not improve hypokalemia in thyrotoxic hypokalemic periodic paralysis. 61
17394988 2007
47
Images in cardiovascular medicine. An electrocardiogram triad in thyrotoxic hypokalemic periodic paralysis. 61
17296862 2007
48
Thyrotoxic hypokalemic periodic paralysis as the first manifestation of interferon-alpha-induced Graves disease. 61
17016146 2006
49
An unusual cause of muscle weakness: a case report. 61
16969143 2006
50
Thyrotoxic hypokalemic periodic paralysis in a Philippine man. 61
16958252 2006

Variations for Thyrotoxic Periodic Paralysis 2

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ18 NM_001194958.2(KCNJ18):c.429del (p.Ile144fs)deletion Pathogenic,risk factor 204 rs527236153 17:21703214-21703214
2 KCNJ18 NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)SNV Pathogenic,risk factor 205 rs527236158 17:356212-356212 17:21703847-21703847
3 KCNJ18 NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg)SNV Pathogenic,risk factor 207 rs527236159 17:356248-356248 17:21703883-21703883
4 KCNJ18 NM_001194958.2(KCNJ18):c.614G>A (p.Arg205His)SNV risk factor 206 rs672601244 17:355765-355765 17:21703400-21703400
5 KCNJ18 NM_001194958.2(KCNJ18):c.655C>T (p.Arg219Cys)SNV Uncertain significance 448965 rs1469374904 17:21703441-21703441

UniProtKB/Swiss-Prot genetic disease variations for Thyrotoxic Periodic Paralysis 2:

73
# Symbol AA change Variation ID SNP ID
1 KCNJ18 p.Thr140Met VAR_063286 rs527236152
2 KCNJ18 p.Arg205His VAR_063287 rs672601244
3 KCNJ18 p.Thr354Met VAR_063288 rs527236158
4 KCNJ18 p.Lys366Arg VAR_063289 rs527236159
5 KCNJ18 p.Lys360Thr VAR_079838
6 KCNJ18 p.Glu388Lys VAR_079839

Expression for Thyrotoxic Periodic Paralysis 2

Search GEO for disease gene expression data for Thyrotoxic Periodic Paralysis 2.

Pathways for Thyrotoxic Periodic Paralysis 2

GO Terms for Thyrotoxic Periodic Paralysis 2

Sources for Thyrotoxic Periodic Paralysis 2

3 CDC
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68 SNOMED-CT via HPO
69 TGDB
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72 UMLS via Orphanet
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