TTPP2
MCID: THY083
MIFTS: 27

Thyrotoxic Periodic Paralysis 2 (TTPP2)

Categories: Genetic diseases, Muscle 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 57 73 29 6 39
Thyrotoxic Periodic Paralysis, Susceptibility to, 2 57 13
Ttpp2 57 73
Thyrotoxic Hypokalemic Periodic Paralysis 73
Tpp 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 and thyrotoxic periodic paralysis 1. 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 69)
# Related Disease Score Top Affiliating Genes
1 thyrotoxic periodic paralysis 11.9
2 thyrotoxic periodic paralysis 1 11.5
3 hypokalemic periodic paralysis, type 1 11.1
4 periodic paralysis 11.1
5 thiamine metabolism dysfunction syndrome 5 11.1
6 hypokalemia 10.9
7 hyperthyroidism 10.9
8 graves disease 1 10.9
9 graves' disease 10.8
10 goiter 10.5
11 quadriplegia 10.4
12 tremor 10.4
13 andersen cardiodysrhythmic periodic paralysis 10.2
14 myasthenia gravis 10.2
15 branchiootic syndrome 1 10.2
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
17 hypokalemic periodic paralysis, type 2 10.2
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
19 hypophosphatemia 10.2
20 familial periodic paralysis 10.2
21 respiratory failure 10.2
22 hypothyroidism 10.2
23 hyperinsulinism 10.2
24 transient cerebral ischemia 10.2
25 papillary carcinoma 10.2
26 myopathy 10.2
27 thyroiditis 10.2
28 pathologic nystagmus 10.2
29 familial periodic paralyses 10.2
30 periodic paralyses 10.2
31 neuronal ceroid-lipofuscinoses 10.1
32 neuronal ceroid lipofuscinosis 10.1
33 beriberi 10.0
34 helix syndrome 10.0
35 early-onset parkinson's disease 10.0
36 alzheimer disease 9.8
37 breast cancer 9.8
38 parkinson disease, late-onset 9.8
39 phosphatase, acid, of tissues 9.8
40 triiodothyronine receptor auxiliary protein 9.8
41 ceroid lipofuscinosis, neuronal, 2 9.8
42 pyruvate carboxylase deficiency 9.8
43 prostatic hyperplasia, benign 9.8
44 myocardial infarction 9.8
45 autosomal recessive disease 9.8
46 metabolic acidosis 9.8
47 atrial fibrillation 9.8
48 keratoconus 9.8
49 thrombotic thrombocytopenic purpura 9.8
50 prostatic hypertrophy 9.8

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 hyperthyroidism 31 HP:0000836
4 weight loss 31 HP:0001824
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

# Title Authors PMID Year
1
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. 6 57
20074522 2010
2
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis. 61
32765863 2020

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.614G>A (p.Arg205His) SNV risk factor 206 rs672601244 17:355765-355765 17:21703400-21703400
2 KCNJ18 NM_001194958.2(KCNJ18):c.429del (p.Ile144fs) Deletion risk factor 204 rs527236153 17:21703214-21703214
3 KCNJ18 NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met) SNV risk factor 205 rs527236158 17:356212-356212 17:21703847-21703847
4 KCNJ18 NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg) SNV risk factor 207 rs527236159 17:356248-356248 17:21703883-21703883
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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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