TTPP1
MCID: THY084
MIFTS: 33

Thyrotoxic Periodic Paralysis 1 (TTPP1)

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

Aliases & Classifications for Thyrotoxic Periodic Paralysis 1

MalaCards integrated aliases for Thyrotoxic Periodic Paralysis 1:

Name: Thyrotoxic Periodic Paralysis 1 58 76
Thyrotoxic Periodic Paralysis, Susceptibility to, 1 58 13
Ttpp1 58 76
Thyrotoxic Hypokalemic Periodic Paralysis 76
Tpp 76

Characteristics:

OMIM:

58
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:

33
thyrotoxic periodic paralysis 1:
Inheritance heterogeneous sporadic


Classifications:



Summaries for Thyrotoxic Periodic Paralysis 1

OMIM : 58 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 colon, and related phenotypes are muscle weakness and hypokalemia

UniProtKB/Swiss-Prot : 76 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

Graphical network of the top 20 diseases related to Thyrotoxic Periodic Paralysis 1:



Diseases related to Thyrotoxic Periodic Paralysis 1

Symptoms & Phenotypes for Thyrotoxic Periodic Paralysis 1

Human phenotypes related to Thyrotoxic Periodic Paralysis 1:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 hypokalemia 33 HP:0002900
3 hyperthyroidism 33 HP:0000836
4 goiter 33 HP:0000853
5 tachycardia 33 HP:0001649
6 rhabdomyolysis 33 HP:0003201
7 palpitations 33 HP:0001962
8 periodic paralysis 33 HP:0003768

Symptoms via clinical synopsis from OMIM:

58
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:

188580

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 Completed 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:

42
Thyroid, Colon

Publications for Thyrotoxic Periodic Paralysis 1

Articles related to Thyrotoxic Periodic Paralysis 1:

(show all 48)
# Title Authors Year
1
Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men. ( 30305000 )
2019
2
Recognizing thyrotoxic hypokalemic periodic paralysis. ( 29278563 )
2018
3
Changing Management Guidelines in Thyrotoxic Hypokalemic Periodic Paralysis. ( 29871829 )
2018
4
Thyrotoxic Hypokalemic Periodic Paralysis. ( 29910553 )
2018
5
Thyrotoxic hypokalemic periodic paralysis. ( 30169664 )
2018
6
Myasthenia gravis accompanied by Graves' disease, thyrotoxic hypokalemic periodic paralysis and thymic hyperplasia. ( 27381127 )
2016
7
Thyrotoxic hypokalemic periodic paralysis. ( 27318366 )
2016
8
Thyrotoxic hypokalemic periodic paralysis in a Turkish patient presenting with a U wave on ECG. ( 27394710 )
2016
9
Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents. ( 25153560 )
2015
10
Thyrotoxic hypokalemic periodic paralysis in an African male: a case report. ( 25767707 )
2015
11
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis. ( 23956568 )
2013
12
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. ( 24156178 )
2013
13
Surgical treatment for thyrotoxic hypokalemic periodic paralysis: case report. ( 22273473 )
2012
14
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. ( 22399142 )
2012
15
Thyrotoxic hypokalemic periodic paralysis is a rare but potentially fatal emergency: case report and literature review. ( 22111475 )
2011
16
Thyrotoxic hypokalemic periodic paralysis due to dietary weight-loss supplement. ( 20068442 )
2011
17
[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
18
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 20074522 )
2010
19
Thyrotoxic hypokalemic periodic paralysis: a life-threatening syndrome. ( 19106719 )
2009
20
Thyrotoxic hypokalemic periodic paralysis as the presenting symptom in a young Ashkenazi Jewish man. ( 19960857 )
2009
21
Potassium chloride supplementation alone may not improve hypokalemia in thyrotoxic hypokalemic periodic paralysis. ( 17394988 )
2007
22
Images in cardiovascular medicine. An electrocardiogram triad in thyrotoxic hypokalemic periodic paralysis. ( 17296862 )
2007
23
Thyrotoxic hypokalemic periodic paralysis in a white man. ( 17524738 )
2007
24
Thyrotoxic hypokalemic periodic paralysis: An overlooked pathology in western countries. ( 17693226 )
2007
25
Thyrotoxic hypokalemic periodic paralysis triggered by high carbohydrate diet. ( 17890941 )
2007
26
Thyrotoxic hypokalemic periodic paralysis in a Philippine man. ( 16958252 )
2006
27
Thyrotoxic hypokalemic periodic paralysis as the first manifestation of interferon-alpha-induced Graves disease. ( 17016146 )
2006
28
Thyrotoxic hypokalemic periodic paralysis in a Turkish male with graves' disease: a rare case report and review of the literature. ( 16077173 )
2005
29
Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis. ( 15795511 )
2005
30
Inadvertent iodine excess causing thyrotoxic hypokalemic periodic paralysis. ( 16314553 )
2005
31
Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. ( 15072700 )
2004
32
[Thyrotoxic hypokalemic periodic paralysis, an endocrine emergency: clinical and genetic features in 25 patients]. ( 15611833 )
2004
33
Thyrotoxic hypokalemic periodic paralysis in a Hispanic male. ( 12069220 )
2002
34
A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. ( 12414843 )
2002
35
Thyrotoxic hypokalemic periodic paralysis in a Native American patient: case report and literature review. ( 15259121 )
2002
36
Thyrotoxic hypokalemic periodic paralysis reversed by propranolol without rebound hyperkalemia. ( 11275839 )
2001
37
Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. ( 10812764 )
2000
38
Thyrotoxic hypokalemic periodic paralysis. ( 9522829 )
1998
39
Thyrotoxic hypokalemic periodic paralysis: six cases in non-Asian patients. ( 15251742 )
1998
40
Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males. ( 7711509 )
1994
41
Thyrotoxic hypokalemic periodic paralysis following second-trimester prostaglandin-induced abortion. ( 8378017 )
1993
42
Thyrotoxic hypokalemic periodic paralysis in a white man. ( 1948235 )
1991
43
Sudden deafness in a man with thyrotoxic hypokalemic periodic paralysis. ( 3193664 )
1988
44
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (2). ( 3550012 )
1987
45
Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (1). ( 3819899 )
1987
46
The sarcoplasmic reticulum in thyrotoxic hypokalemic periodic paralysis. ( 5766391 )
1969
47
Thyrotoxic hypokalemic periodic paralysis. Muscle morphology and functional assay of sarcoplasmic reticulum. ( 5772547 )
1969
48
Thyrotoxic hypokalemic periodic paralysis. ( 5787434 )
1969

Variations for Thyrotoxic Periodic Paralysis 1

ClinVar genetic disease variations for Thyrotoxic Periodic Paralysis 1:

6 (show all 31)
# 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
24 CACNA1S NM_000069.2(CACNA1S): c.2767G> A (p.Val923Met) single nucleotide variant Uncertain significance rs571902899 GRCh37 Chromosome 1, 201035052: 201035052
25 CACNA1S NM_000069.2(CACNA1S): c.2767G> A (p.Val923Met) single nucleotide variant Uncertain significance rs571902899 GRCh38 Chromosome 1, 201065924: 201065924
26 CACNA1S NM_000069.2(CACNA1S): c.93G> C (p.Leu31Phe) single nucleotide variant Uncertain significance rs556751671 GRCh37 Chromosome 1, 201081375: 201081375
27 CACNA1S NM_000069.2(CACNA1S): c.93G> C (p.Leu31Phe) single nucleotide variant Uncertain significance rs556751671 GRCh38 Chromosome 1, 201112247: 201112247
28 CACNA1S NM_000069.2(CACNA1S): c.253G> A (p.Gly85Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 201079297: 201079297
29 CACNA1S NM_000069.2(CACNA1S): c.253G> A (p.Gly85Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 201110169: 201110169
30 CACNA1S NM_000069.2(CACNA1S): c.1385G> A (p.Arg462His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 201083170: 201083170
31 CACNA1S NM_000069.2(CACNA1S): c.1385G> A (p.Arg462His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 201052298: 201052298

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 EFO
18 ExPASy
20 FMA
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32 HMDB
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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