MCID: THY084
MIFTS: 30

Thyrotoxic Periodic Paralysis 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Thyrotoxic Periodic Paralysis 1

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis 1:

Name: Thyrotoxic Periodic Paralysis 1 57 75
Thyrotoxic Periodic Paralysis, Susceptibility to, 1 57 13
Ttpp1 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 1:
Inheritance heterogeneous sporadic


Classifications:



Summaries for Thyrotoxic Periodic Paralysis 1

OMIM : 57 Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). (188580)

MalaCards based summary : Thyrotoxic Periodic Paralysis 1, also known as thyrotoxic periodic paralysis, susceptibility to, 1, is related to thyrotoxic periodic paralysis and thyrotoxic periodic paralysis 2. An important gene associated with Thyrotoxic Periodic Paralysis 1 is CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S). Affiliated tissues include thyroid, and related phenotypes are muscle weakness and hypokalemia

UniProtKB/Swiss-Prot : 75 Thyrotoxic periodic paralysis 1: 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.

Related Diseases for Thyrotoxic Periodic Paralysis 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thyrotoxic periodic paralysis 30.8 CACNA1S KCNJ18
2 thyrotoxic periodic paralysis 2 11.8
3 hypokalemic periodic paralysis, type 1 11.0

Symptoms & Phenotypes for Thyrotoxic Periodic Paralysis 1

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:

188580

Human phenotypes related to Thyrotoxic Periodic Paralysis 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 hypokalemia 32 HP:0002900
3 hyperthyroidism 32 HP:0000836
4 goiter 32 HP:0000853
5 palpitations 32 HP:0001962
6 rhabdomyolysis 32 HP:0003201
7 periodic paralysis 32 HP:0003768

Drugs & Therapeutics for Thyrotoxic Periodic Paralysis 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Activity and Tolerability of Pazopanib in Advanced and/or Metastatic Liposarcoma. A Phase II Clinical Trial Unknown status NCT01692496 Phase 2 Pazopanib

Search NIH Clinical Center for Thyrotoxic Periodic Paralysis 1

Genetic Tests for Thyrotoxic Periodic Paralysis 1

Anatomical Context for Thyrotoxic Periodic Paralysis 1

MalaCards organs/tissues related to Thyrotoxic Periodic Paralysis 1:

41
Thyroid

Publications for Thyrotoxic Periodic Paralysis 1

Articles related to Thyrotoxic Periodic Paralysis 1:

(show all 41)
# Title Authors Year
1
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )
2016
2
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )
2015
3
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )
2014
4
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )
2013
5
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. ( 24156178 )
2013
6
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. ( 22273473 )
2012
7
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. ( 22399142 )
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 )
2011
9
Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. ( 22111475 )
2011
10
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. ( 20068442 )
2011
11
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 20074522 )
2010
12
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom in a young Ashkenazi Jewish man. ( 19960857 )
2009
13
Thyrotoxic hypokalemic periodic paralysis: a life-threatening syndrome. ( 19106719 )
2009
14
Images in cardiovascular medicine. An electrocardiogram triad in thyrotoxic hypokalemic periodic paralysis. ( 17296862 )
2007
15
Potassium chloride supplementation alone may not improve hypokalemia in thyrotoxic hypokalemic periodic paralysis. ( 17394988 )
2007
16
Thyrotoxic hypokalemic periodic paralysis in a white man. ( 17524738 )
2007
17
Thyrotoxic hypokalemic periodic paralysis: An overlooked pathology in western countries. ( 17693226 )
2007
18
Thyrotoxic hypokalemic periodic paralysis triggered by high carbohydrate diet. ( 17890941 )
2007
19
Thyrotoxic hypokalemic periodic paralysis as the first manifestation of interferon-alpha-induced Graves disease. ( 17016146 )
2006
20
Thyrotoxic hypokalemic periodic paralysis in a Philippine man. ( 16958252 )
2006
21
Inadvertent iodine excess causing thyrotoxic hypokalemic periodic paralysis. ( 16314553 )
2005
22
Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis. ( 15795511 )
2005
23
Thyrotoxic hypokalemic periodic paralysis in a Turkish male with graves' disease: a rare case report and review of the literature. ( 16077173 )
2005
24
[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. ( 15611833 )
2004
25
Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. ( 15072700 )
2004
26
Thyrotoxic hypokalemic periodic paralysis in a Native American patient: case report and literature review. ( 15259121 )
2002
27
Thyrotoxic hypokalemic periodic paralysis in a Hispanic male. ( 12069220 )
2002
28
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 12414843 )
2002
29
Thyrotoxic hypokalemic periodic paralysis reversed by propranolol without rebound hyperkalemia. ( 11275839 )
2001
30
Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. ( 10812764 )
2000
31
Thyrotoxic hypokalemic periodic paralysis. ( 9522829 )
1998
32
Thyrotoxic hypokalemic periodic paralysis: six cases in non-Asian patients. ( 15251742 )
1998
33
Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males. ( 7711509 )
1994
34
Thyrotoxic hypokalemic periodic paralysis following second-trimester prostaglandin-induced abortion. ( 8378017 )
1993
35
Thyrotoxic hypokalemic periodic paralysis in a white man. ( 1948235 )
1991
36
Sudden deafness in a man with thyrotoxic hypokalemic periodic paralysis. ( 3193664 )
1988
37
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (1). ( 3819899 )
1987
38
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (2). ( 3550012 )
1987
39
Thyrotoxic hypokalemic periodic paralysis. Muscle morphology and functional assay of sarcoplasmic reticulum. ( 5772547 )
1969
40
Thyrotoxic hypokalemic periodic paralysis. ( 5787434 )
1969
41
The sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis. ( 5766391 )
1969

Variations for Thyrotoxic Periodic Paralysis 1

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis 1:

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 1

Search GEO for disease gene expression data for Thyrotoxic Periodic Paralysis 1.

Pathways for Thyrotoxic Periodic Paralysis 1

GO Terms for Thyrotoxic Periodic Paralysis 1

Biological processes related to Thyrotoxic Periodic Paralysis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.96 CACNA1S KCNJ18
2 regulation of ion transmembrane transport GO:0034765 8.62 CACNA1S KCNJ18

Molecular functions related to Thyrotoxic Periodic Paralysis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 CACNA1S KCNJ18

Sources for Thyrotoxic Periodic Paralysis 1

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
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45 MESH via Orphanet
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49 NCI
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54 NINDS
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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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