PedAM

Pediatric Disease Annotations & Medicines


	thyrotoxic periodic paralysis

Disease ID	1448
Disease	thyrotoxic periodic paralysis
Synonym	hashitoxic periodic paralysis paralysis periodic thyrotoxic thyrotoxic periodic paralysis (disorder)
Orphanet	ORPHANET:79102
UMLS	C0268446
SNOMED-CT	SNOMEDCT_US_2016_09_01:30967002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0018213 \| graves' disease \| 3 C0040156 \| thyrotoxicosis \| 3 C0020550 \| hyperthyroidism \| 1 C0033975 \| psychosis \| 1 C1145670 \| respiratory failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) KCNJ18 \| 100134444 \| CLINVAR;ORPHANET CACNA1S \| 779 \| CLINVAR;ORPHANET GABRA3 \| 2556 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 476 \| ATP1A1 \| infer 477 \| ATP1A2 \| infer 481 \| ATP1B1 \| infer 482 \| ATP1B2 \| infer 23439 \| ATP1B4 \| infer 779 \| CACNA1S \| infer 6329 \| SCN4A \| infer 6331 \| SCN5A \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1448
Disease	thyrotoxic periodic paralysis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:42) HP:0001824 \| Weight loss HP:0002019 \| Constipation HP:0008285 \| Transient hypophosphatemia HP:0003394 \| Muscle cramps HP:0002917 \| Hypomagnesemia HP:0012726 \| Episodic hypokalemia HP:0008180 \| Mildly elevated creatine phosphokinase HP:0005165 \| Shortened PR interval HP:0003470 \| Paralysis HP:0012364 \| Decreased urinary potassium HP:0001657 \| Prolonged QT interval HP:0012240 \| Increased intramyocellular lipid droplets HP:0003134 \| Abnormality of peripheral nerve conduction HP:0002445 \| Tetraplegia HP:0002486 \| Myotonia HP:0001663 \| Ventricular fibrillation HP:0001513 \| Obesity HP:0000836 \| Hyperthyroidism HP:0003457 \| EMG abnormality HP:0007340 \| Lower limb muscle weakness HP:0000975 \| Hyperhidrosis HP:0003201 \| Rhabdomyolysis HP:0011784 \| Thyrotoxicosis with diffuse goiter HP:0011786 \| Thyrotoxicosis with toxic single thyroid nodule HP:0000597 \| Ophthalmoparesis HP:0003752 \| Episodic flaccid weakness HP:0011785 \| Thyrotoxicosis with toxic multinodular goitre HP:0002153 \| Hyperkalemia HP:0008153 \| Periodic hypokalemic paresis HP:0003552 \| Muscle stiffness HP:0000016 \| Urinary retention HP:0100647 \| Graves disease HP:0011706 \| Second degree atrioventricular block HP:0001962 \| Palpitations HP:0009020 \| Exercise-induced muscle fatigue HP:0004303 \| Abnormality of muscle fibers HP:0006670 \| Impaired myocardial contractility HP:0003694 \| Late-onset proximal muscle weakness HP:0001265 \| Hyporeflexia HP:0002203 \| Respiratory paralysis HP:0011998 \| Postprandial hyperglycemia HP:0001337 \| Tremor
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0003690 \| Limb weakness \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0000709 \| Psychosis \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0002153 \| Elevated serum potassium levels \| 1

Disease ID	1448
Disease	thyrotoxic periodic paralysis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1145670 \| respiratory failure \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1325310	NA	779	CACNA1S	umls:C0268446	CLINVAR	NA	0.242909916	NA	CACNA1S	1	201110107	C	T
rs2281845	NA	779	CACNA1S	umls:C0268446	CLINVAR	NA	0.242909916	NA	CACNA1S	1	201112815	C	T
rs527236151	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21702913	C	T
rs527236152	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703205	C	T
rs527236153	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703215	C	-
rs527236154	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703288	G	A
rs527236155	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703384	G	C
rs527236156	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703981	C	T
rs527236157	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21704005	C	T
rs527236158	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703847	C	T
rs527236159	NA	100134444	KCNJ18	umls:C0268446	CLINVAR	NA	0.240542884	NA	KCNJ18	17	21703883	A	G
rs623011	22910584	3759	KCNJ2	umls:C0268446	BeFree	A recent genome-wide association study of Thai patients with thyrotoxic periodic paralysis (TPP) identified a novel genetic variant rs623011 located in chromosome 17q24.3, which may potentially reduce the transcription of Kir2.1 and total Kir current.	0.000542884	2012	NA	17	70263305	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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