Thyrotoxic Periodic Paralysis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: THY083 MIFTS: 27	Thyrotoxic Periodic Paralysis 2 Categories: Genetic diseases, Rare diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Thyrotoxic Periodic Paralysis 2

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis 2:

Name: Thyrotoxic Periodic Paralysis 2 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁴⁰

Thyrotoxic Periodic Paralysis, Susceptibility to, 2 ⁵⁷ ¹³

Ttpp2 ⁵⁷ ⁷⁵

Thyrotoxic Hypokalemic Periodic Paralysis ⁷⁵

Tpp ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
isolated cases

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:

³²

thyrotoxic periodic paralysis 2:
Inheritance heterogeneous sporadic

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613239

MedGen ⁴² C2750473

MeSH ⁴⁴ D010245

SNOMED-CT via HPO ⁶⁹ 34486009 3716002 26544005 more

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Summaries for Thyrotoxic Periodic Paralysis 2

UniProtKB/Swiss-Prot : ⁷⁵ 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 Voltage-Gated Channel Subfamily J Member 18). Affiliated tissues include thyroid, and related phenotypes are muscle weakness and hyperthyroidism

Description from OMIM: 613239

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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:

#	Related Disease	Score
1	thyrotoxic periodic paralysis 1	11.8
2	thyrotoxic periodic paralysis	11.6
3	hypokalemic periodic paralysis, type 1	10.9
4	graves' disease	10.3
5	myasthenia gravis	10.1
6	hypokalemia	10.1
7	thyroiditis	10.1
8	myasthenia gravis congenital	10.1

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

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Symptoms & Phenotypes for Thyrotoxic Periodic Paralysis 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endocrine Features:
hyperthyroidism
goiter
enlarged thyroid gland

Growth Weight:
weight loss 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

Cardiovascular Heart:
palpitations
tachycardia due to hyperthyroidism

Head And Neck Eyes:
exophthalmos due to hyperthyroidism

Neurologic Central Nervous System:
tremor due to hyperthyroidism

Metabolic Features:
increased sweating due to hyperthyroidism

Clinical features from OMIM:

613239

Human phenotypes related to Thyrotoxic Periodic Paralysis 2:

³²

#	Description	HPO Source Accession
1	muscle weakness ³²	HP:0001324
2	hyperthyroidism ³²	HP:0000836
3	goiter ³²	HP:0000853
4	palpitations ³²	HP:0001962
5	periodic paralysis ³²	HP:0003768

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Drugs & Therapeutics for Thyrotoxic Periodic Paralysis 2

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

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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

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Anatomical Context for Thyrotoxic Periodic Paralysis 2

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis 2:

⁴¹

Thyroid

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Publications for Thyrotoxic Periodic Paralysis 2

Articles related to Thyrotoxic Periodic Paralysis 2:

(show all 41)

#	Title	Authors	Year
1	Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )	Huang K....Li J.	2016
2	Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )	Belayneh D.K....Kellerth T.	2015
3	Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )	Al-Zubeidi H....Jones K.L.	2014
4	Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )	Sanyal D....Bhattacharjee S.	2013
5	Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. ( 24156178 )	Shah M....Silverstein N.	2013
6	Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. ( 22273473 )	Lin Y.C....Chiang F.Y.	2012
7	A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. ( 22399142 )	Jongjaroenprasert W....Nakamura Y.	2012
8	[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]. ( 21774221 )	Xiao Z....Tian H.	2011
9	Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. ( 22111475 )	GA^mez-Torres J.Y....Lemos-RamA-rez J.C.	2011
10	Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. ( 20068442 )	Akinyemi E....Hemavathy B.	2011
11	Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 20074522 )	Ryan D.P....Ptacek L.J.	2010
12	Thyrotoxic hypokalemic periodic paralysis as the presenting symptom in a young Ashkenazi Jewish man. ( 19960857 )	Barski L....Liel Y.	2009
13	Thyrotoxic hypokalemic periodic paralysis: a life-threatening syndrome. ( 19106719 )	Antonello I.C....d'Avila D.O.	2009
14	Images in cardiovascular medicine. An electrocardiogram triad in thyrotoxic hypokalemic periodic paralysis. ( 17296862 )	Goldberger Z.D.	2007
15	Potassium chloride supplementation alone may not improve hypokalemia in thyrotoxic hypokalemic periodic paralysis. ( 17394988 )	Yu T.S....Lu K.C.	2007
16	Thyrotoxic hypokalemic periodic paralysis in a white man. ( 17524738 )	Kirkeby K.M....Baudendistel T.E.	2007
17	Thyrotoxic hypokalemic periodic paralysis: An overlooked pathology in western countries. ( 17693226 )	Pompeo A....Genovesi N.	2007
18	Thyrotoxic hypokalemic periodic paralysis triggered by high carbohydrate diet. ( 17890941 )	El-Hennawy A.S....Mahmood A.K.	2007
19	Thyrotoxic hypokalemic periodic paralysis as the first manifestation of interferon-alpha-induced Graves disease. ( 17016146 )	Cesur M....Kamel N.	2006
20	Thyrotoxic hypokalemic periodic paralysis in a Philippine man. ( 16958252 )	Ovadia S....Lysyy L.	2006
21	Inadvertent iodine excess causing thyrotoxic hypokalemic periodic paralysis. ( 16314553 )	Tran H.A.	2005
22	Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis. ( 15795511 )	Schalin-Jantti C....Valimaki M.J.	2005
23	Thyrotoxic hypokalemic periodic paralysis in a Turkish male with graves' disease: a rare case report and review of the literature. ( 16077173 )	Erem C.	2005
24	[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. ( 15611833 )	Silva M.R....Maciel R.M.	2004
25	Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. ( 15072700 )	Ng W.Y....Cheah J.S.	2004
26	Thyrotoxic hypokalemic periodic paralysis in a Native American patient: case report and literature review. ( 15259121 )	Seshadri P....Iqbal N.	2002
27	Thyrotoxic hypokalemic periodic paralysis in a Hispanic male. ( 12069220 )	Zumo L.A....Brannan T.	2002
28	A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 12414843 )	Dias da Silva M.R....Maciel R.M.B.	2002
29	Thyrotoxic hypokalemic periodic paralysis reversed by propranolol without rebound hyperkalemia. ( 11275839 )	HUANG T.Y....Lin S.H.	2001
30	Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. ( 10812764 )	Milite C.P....Golob D.S.	2000
31	Thyrotoxic hypokalemic periodic paralysis. ( 9522829 )	Taha H.M....Singh J.	1998
32	Thyrotoxic hypokalemic periodic paralysis: six cases in non-Asian patients. ( 15251742 )	Gordon D.L....Lawrence A.M.	1998
33	Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males. ( 7711509 )	Kilpatrick R.E....Levine S.N.	1994
34	Thyrotoxic hypokalemic periodic paralysis following second-trimester prostaglandin-induced abortion. ( 8378017 )	Richey S.D....Wendel G.D.	1993
35	Thyrotoxic hypokalemic periodic paralysis in a white man. ( 1948235 )	Woolery W.A....Gharib H.	1991
36	Sudden deafness in a man with thyrotoxic hypokalemic periodic paralysis. ( 3193664 )	Moriyama K....Yasuda K.	1988
37	Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (1). ( 3819899 )	Tinker T.D....Vannatta J.B.	1987
38	Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (2). ( 3550012 )	Tinker T.D....Vannatta J.B.	1987
39	Thyrotoxic hypokalemic periodic paralysis. Muscle morphology and functional assay of sarcoplasmic reticulum. ( 5772547 )	Brody I.A....Dudley A.W.	1969
40	Thyrotoxic hypokalemic periodic paralysis. ( 5787434 )	Schutta H.S....Armitage J.L.	1969
41	The sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis. ( 5766391 )	Schutta H.S....Armitage J.L.	1969

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Genes for Thyrotoxic Periodic Paralysis 2

Genes related to Thyrotoxic Periodic Paralysis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KCNJ18	Potassium Voltage-Gated Channel Subfamily J Member 18	Protein Coding	1004.26	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	20074522

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Variations for Thyrotoxic Periodic Paralysis 2

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

⁷⁵

#	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

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis 2:

⁶

#	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.614G> A (p.Arg205His)	single nucleotide variant	risk factor	rs672601244	GRCh38	Chromosome 17, 21703400: 21703400
5	KCNJ18	NM_001194958.2(KCNJ18): c.614G> A (p.Arg205His)	single nucleotide variant	risk factor	rs672601244	GRCh37	Chromosome 17, 355765: 355765
6	KCNJ18	NM_001194958.2(KCNJ18): c.1097A> G (p.Lys366Arg)	single nucleotide variant	Pathogenic,risk factor	rs527236159	GRCh38	Chromosome 17, 21703883: 21703883
7	KCNJ18	NM_001194958.2(KCNJ18): c.1097A> G (p.Lys366Arg)	single nucleotide variant	Pathogenic,risk factor	rs527236159	GRCh37	Chromosome 17, 356248: 356248
8	KCNJ18	NM_001194958.2(KCNJ18): c.655C> T (p.Arg219Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 17, 21703441: 21703441

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Expression for Thyrotoxic Periodic Paralysis 2

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

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Pathways for Thyrotoxic Periodic Paralysis 2

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GO Terms for Thyrotoxic Periodic Paralysis 2

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