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	familial periodic paralysis

Disease ID	628
Disease	familial periodic paralysis
Definition	A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)
Synonym	cavarre disease familial myoplegia familial paralysis periodic familial periodic paralyses familial periodic paralysis (disorder) familial periodic paralysis (disorder) [ambiguous] familial periodic paralysis, nos familial recurrent paralysis myoplegic dystrophy paralyses, familial periodic paralyses, familial periodic [disease/finding] paralysis periodic paralysis, familial periodic periodic familial paralysis periodic myotonia periodic paralyses, familial periodic paralysis periodic paralysis familial periodic paralysis, familial
Orphanet	ORPHANET:206976
DOID	DOID:1029
ICD10	ICD10CM:G72.3
UMLS	C0030443
MeSH	D010245
SNOMED-CT	SNOMEDCT_US_2016_09_01:267607008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0018213 \| graves' disease \| 4 C0040156 \| thyrotoxicosis \| 3 C1527336 \| sjogren's syndrome \| 2 C0020550 \| hyperthyroidism \| 2 C0020676 \| hypothyroidism \| 1 C0014544 \| epilepsy \| 1 C1527336 \| sjogren syndrome \| 1 C0033975 \| psychosis \| 1 C0005586 \| bipolar disorder \| 1 C0001126 \| renal tubular acidosis \| 1 C1563715 \| andersen-tawil syndrome \| 1 C1145670 \| respiratory failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 779 \| CACNA1S \| GHR 6329 \| SCN4A \| GHR 3759 \| KCNJ2 \| CLINVAR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 779 \| CACNA1S \| CIPHER 10008 \| KCNE3 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:40) 488 \| ATP2A2 \| 1.022 \| DISEASES 56244 \| BTNL2 \| 1.632 \| DISEASES 778 \| CACNA1F \| 1.611 \| DISEASES 779 \| CACNA1S \| 7.964 \| DISEASES 785 \| CACNB4 \| 2.395 \| DISEASES 1180 \| CLCN1 \| 4.691 \| DISEASES 7555 \| CNBP \| 2.561 \| DISEASES 1756 \| DMD \| 1.048 \| DISEASES 1760 \| DMPK \| 2.992 \| DISEASES 1798 \| DPAGT1 \| 1.427 \| DISEASES 2235 \| FECH \| 1.343 \| DISEASES 2512 \| FTL \| 1.549 \| DISEASES 2632 \| GBE1 \| 1.583 \| DISEASES 102723508 \| KANTR \| 1.555 \| DISEASES 3753 \| KCNE1 \| 2.017 \| DISEASES 3758 \| KCNJ1 \| 1.4 \| DISEASES 3767 \| KCNJ11 \| 1.123 \| DISEASES 3768 \| KCNJ12 \| 4.05 \| DISEASES 3770 \| KCNJ14 \| 3.234 \| DISEASES 3772 \| KCNJ15 \| 2.921 \| DISEASES 3778 \| KCNMA1 \| 1.086 \| DISEASES 3786 \| KCNQ3 \| 1.67 \| DISEASES 56479 \| KCNQ5 \| 2.306 \| DISEASES 4038 \| LRP4 \| 1.94 \| DISEASES 4151 \| MB \| 1.197 \| DISEASES 23114 \| NFASC \| 2.955 \| DISEASES 27445 \| PCLO \| 1.709 \| DISEASES 5787 \| PTPRB \| 3.107 \| DISEASES 5803 \| PTPRZ1 \| 2.852 \| DISEASES 6261 \| RYR1 \| 3.613 \| DISEASES 6324 \| SCN1B \| 1.76 \| DISEASES 6329 \| SCN4A \| 8.06 \| DISEASES 123228 \| SENP8 \| 2.1 \| DISEASES 6557 \| SLC12A1 \| 1.355 \| DISEASES 6559 \| SLC12A3 \| 1.903 \| DISEASES 8671 \| SLC4A4 \| 1.328 \| DISEASES 6708 \| SPTA1 \| 1.856 \| DISEASES 29110 \| TBK1 \| 1.332 \| DISEASES 7068 \| THRB \| 1.09 \| DISEASES 10345 \| TRDN \| 1.962 \| DISEASES
Locus	(Waiting for update.)

Disease ID	628
Disease	familial periodic paralysis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0000836 \| Overactive thyroid \| 3 HP:0002900 \| Hypokalemia \| 3 HP:0003470 \| Inability to move \| 2 HP:0011675 \| Arrhythmias \| 1 HP:0001947 \| Renal tubular acidosis \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0004305 \| Involuntary muscle contractions \| 1 HP:0001369 \| Arthritis \| 1 HP:0000709 \| Psychosis \| 1 HP:0007302 \| Bipolar disorder \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0002153 \| Elevated serum potassium levels \| 1 HP:0002486 \| Myotonia \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0003690 \| Limb weakness \| 1

Disease ID	628
Disease	familial periodic paralysis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0040156 \| thyrotoxicosis \| 4 C0020550 \| hyperthyroidism \| 3 C0004093 \| weakness \| 1

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

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

All Snps(Total Genotypes:7)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894580	12148092	3759	KCNJ2	umls:C0030443	BeFree	Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity.	0.126524536	2002	KCNJ2	17	70175238	C	A,T
rs17215437	15037716	10008	KCNE3	umls:C0030443	BeFree	An R83H point mutation in KCNE3-encoded MiRP2 has been reported to cause 2% of all cases of familial periodic paralysis.	0.001357209	2004	KCNE3	11	74457316	C	T
rs17215437	14504341	10008	KCNE3	umls:C0030443	BeFree	Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.	0.001357209	2003	KCNE3	11	74457316	C	T
rs199473650	NA	3759	KCNJ2	umls:C0030443	CLINVAR	NA	0.126524536	NA	KCNJ2	17	70175200	G	T
rs80338777	15711422	779	CACNA1S	umls:C0030443	BeFree	Patients with FPP have R528H mutations in the CACNA1S gene.	0.003181358	2005	CACNA1S	1	201077915	C	T
rs80338955	23401572	6329	SCN4A	umls:C0030443	BeFree	Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels II: a periodic paralysis mutation in Na(V)1.4 (L689I).	0.006795978	2013	SCN4A	17	63957473	G	T
rs80338962	19290024	6329	SCN4A	umls:C0030443	BeFree	The present study is to observe in vitro the proliferation ability of the muscle cells from permanent myopathy (PM) patients of nomokalaemic periodic paralysis (normKPP), which is caused by mutations of Met1592Val in the skeletal muscle voltage gated sodium channel (SCN4A) gene on chromosome 17q23.1.	0.006795978	2009	SCN4A	17	63941508	T	C

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.)

Disease ID	628
Disease	familial periodic paralysis
Case	(Waiting for update.)

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