MCID: FML036
MIFTS: 42

Familial Periodic Paralysis

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Familial Periodic Paralysis

MalaCards integrated aliases for Familial Periodic Paralysis:

Name: Familial Periodic Paralysis 12 76 53 29 6 15 73
Paralyses, Familial Periodic 44
Genetic Periodic Paralysis 53

Classifications:



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Disease Ontology 12 DOID:1029
ICD10 33 G72.3
MeSH 44 D010245
NCIt 50 C84709
SNOMED-CT 68 54696002
UMLS 73 C0030443

Summaries for Familial Periodic Paralysis

NIH Rare Diseases : 53 Familial periodic paralysis is a disease characterized by sudden attacks of weakness and paralysis. Weakness is recurrent, affecting mainly the limbs, and is often brought on by exercising or eating too many or too few carbohydrates. There are 4 forms of familial periodic paralysis: hypokalemic, hyperkalemic, thyrotoxic, and Andersen-Tawil syndrome. In the hypokalemic form, the paralysis is caused by low levels of potassium. In the hyperkalemic form, the paralysis is caused by high levels of potassium in the blood. In the thyrotoxic form, the paralysis is caused by low levels of potassium in the blood and an overactive thyroid gland (hyperthyroidism). In Andersen-Tawil syndrome, potassium levels can be high, low, or normal.Mutations in the CACNA1S and SCN4A genes cause hypokalemic periodic paralysis. The hyperkalemic form is due to mutations in SCN4A gene. The underlying cause of the thyrotoxic form is unknown. Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. Treatment is focused on correcting the levels of potassium in the blood and preventing episodes with lifestyle changes. 

MalaCards based summary : Familial Periodic Paralysis, also known as paralyses, familial periodic, is related to hypokalemic periodic paralysis, type 1 and myotonia, and has symptoms including muscle weakness, myalgia and sciatica. An important gene associated with Familial Periodic Paralysis is KCNJ2 (Potassium Voltage-Gated Channel Subfamily J Member 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Vascular smooth muscle contraction. Affiliated tissues include skeletal muscle, thyroid and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 76 Periodic paralysis (also known as myoplegia paroxysmalis familiaris) is a group of rare genetic diseases... more...

Related Diseases for Familial Periodic Paralysis

Diseases related to Familial Periodic Paralysis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 1 30.7 SCN4A RYR1 QDPR KCNJ2 KCNE3 CLCN1
2 myotonia 29.9 SCN4A CLCN1
3 familial periodic paralyses 11.7
4 myotonic dystrophy 2 10.1 SCN4A CLCN1
5 thyrotoxic periodic paralysis 10.1 KCNJ2 CACNA1S
6 myotonic disease 10.1 SCN4A CLCN1
7 metal metabolism disorder 10.1 SCN4A CACNA1S
8 malignant hyperthermia of anesthesia 10.0 RYR1 CACNA1S
9 andersen cardiodysrhythmic periodic paralysis 10.0 SCN4A KCNJ2 CACNA1S
10 central core disease of muscle 10.0 RYR1 CACNA1S
11 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0 SCN4A RYR1
12 brody myopathy 10.0 RYR1 CLCN1
13 myotonia congenita 10.0 SCN4A CLCN1 CACNA1S
14 muscle disorders 10.0 RYR1 CLCN1
15 hypokalemic periodic paralysis, type 2 10.0 SCN4A QDPR
16 malignant hyperthermia susceptibility 9.9 SCN4A RYR1 CACNA1S
17 catecholaminergic polymorphic ventricular tachycardia 9.9 RYR1 KCNJ2
18 muscle tissue disease 9.9 RYR1 CLCN1
19 periodic paralyses 9.9 SCN4A KCNJ2 KCNE3 CACNA1S
20 neuromuscular disease 9.8 SCN4A RYR1
21 polyglucosan body myopathy 1 with or without immunodeficiency 9.8
22 charcot-marie-tooth disease 9.8
23 tooth disease 9.8
24 hypokalemia 9.8
25 hyperthyroidism 9.8
26 waardenburg's syndrome 9.8
27 myopathy, tubular aggregate, 1 9.8 RYR1 QDPR
28 myopathy, congenital, bailey-bloch 9.7 RYR1 QDPR CACNA1S
29 central core myopathy 9.7 RYR1 QDPR CACNA1S
30 malignant hyperthermia 9.6 SCN4A RYR1 QDPR CACNA1S
31 hyperkalemic periodic paralysis 9.5 SCN4A PTPRB KCNJ2 KCNE3 CLCN1 CACNA1S
32 muscular disease 9.4 SCN4A RYR1 QDPR CLCN1 CACNA1S

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



Diseases related to Familial Periodic Paralysis

Symptoms & Phenotypes for Familial Periodic Paralysis

UMLS symptoms related to Familial Periodic Paralysis:


muscle weakness, myalgia, sciatica, muscle rigidity, muscle cramp, muscle spasticity

MGI Mouse Phenotypes related to Familial Periodic Paralysis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB
2 growth/size/body region MP:0005378 9.95 ATP6V0A4 CACNA1S CLCN1 KCNJ2 PTPRB RYR1
3 behavior/neurological MP:0005386 9.91 ATP6V0A4 CACNA1S CLCN1 KCNJ2 RYR1 SCN4A
4 mortality/aging MP:0010768 9.86 ATP6V0A4 CACNA1S CLCN1 KCNJ2 PTPRB QDPR
5 hearing/vestibular/ear MP:0005377 9.67 ATP6V0A4 CLCN1 KCNE3 SCN4A
6 muscle MP:0005369 9.63 CACNA1S CLCN1 KCNJ2 PTPRB RYR1 SCN4A
7 respiratory system MP:0005388 9.35 CACNA1S KCNE3 KCNJ2 RYR1 SCN4A
8 skeleton MP:0005390 9.1 ATP6V0A4 CACNA1S CLCN1 KCNJ2 QDPR RYR1

Drugs & Therapeutics for Familial Periodic Paralysis

Search Clinical Trials , NIH Clinical Center for Familial Periodic Paralysis

Cochrane evidence based reviews: paralyses, familial periodic

Genetic Tests for Familial Periodic Paralysis

Genetic tests related to Familial Periodic Paralysis:

# Genetic test Affiliating Genes
1 Familial Periodic Paralysis 29

Anatomical Context for Familial Periodic Paralysis

MalaCards organs/tissues related to Familial Periodic Paralysis:

41
Skeletal Muscle, Thyroid, Testes

Publications for Familial Periodic Paralysis

Articles related to Familial Periodic Paralysis:

(show top 50) (show all 86)
# Title Authors Year
1
A case report of familial periodic paralysis. ( 18232179 )
2007
2
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. ( 15642860 )
2005
3
Propofol-remifentanil target-controlled anesthesia in a patient with hyperkalemic familial periodic paralysis. ( 15281549 )
2004
4
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. ( 12045162 )
2002
5
An expanding view for the molecular basis of familial periodic paralysis. ( 12117476 )
2002
6
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. ( 10851401 )
2000
7
Recurrent calcium oxalate urolithiasis in a man with familial periodic paralysis and hypokalemia. ( 10332462 )
1999
8
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. ( 10227633 )
1999
9
Bidirectional ventricular tachycardia and familial periodic paralysis: a case report. ( 10407550 )
1999
10
Index of suspicion. Case 3. Familial periodic paralysis. ( 9311251 )
1997
11
Prolonged muscle weakness following emergency tonsillectomy in a patient with familial periodic paralysis and infectious mononucleosis. ( 9188121 )
1997
12
Successful anesthetic management of a patient with hypokalemic familial periodic paralysis undergoing cardiac surgery. ( 1990915 )
1991
13
Atracurium use in a patient with familial periodic paralysis. ( 1878236 )
1991
14
Propofol and atracurium in familial periodic paralysis. ( 2619007 )
1989
15
Atracurium and hypokalemic familial periodic paralysis. ( 3394967 )
1988
16
Hypokalemic familial periodic paralysis: a case report. ( 3590406 )
1987
17
Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery. ( 3876787 )
1985
18
Contribution of the Na(+)-K+ pump to membrane potential in familial periodic paralysis. ( 16758580 )
1985
19
Myoglobin, creatine kinase and creatine kinase subunit-beta in serum from patients and relatives with hypokaliaemic familial periodic paralysis. ( 3976355 )
1985
20
Familial periodic paralysis with hypokalaemia. Study of a muscle biopsy in the myopathic stage of the disorder. ( 6524295 )
1984
21
Serum potassium exercise test in the diagnosis of familial periodic paralysis. ( 6613524 )
1983
22
Hypokalemic familial periodic paralysis. ( 6829961 )
1983
23
Familial periodic paralysis: low muscle potassium permeability or high sodium permeability? ( 6881933 )
1983
24
Familial periodic paralysis with hypokalaemia. Experimental and clinical investigations. ( 6263554 )
1981
25
Familial periodic paralysis and hyperthyroidism. ( 290877 )
1979
26
The presence of serum creatine kinase 2 (MB) in hypokalemic familial periodic paralysis. ( 499178 )
1979
27
Salbutamol inhalations suppress attacks of hyperkalemia in familial periodic paralysis. ( 723906 )
1978
28
[Hypokalemic familial periodic paralysis with basal electrocardiographic changes]. ( 198889 )
1977
29
Anesthetic experiences in a family with hypokalemic familial periodic paralysis. ( 889124 )
1977
30
Treatment of attacks in hyperkalaemic familial periodic paralysis by inhalation of salbutamol. ( 55532 )
1976
31
Letter: Salbutamol in hyperkalaemic familial periodic paralysis. ( 55692 )
1976
32
A new standardized and effective method of inducing paralysis without administration of exogenous hormone in patients with familial periodic paralysis. ( 952203 )
1976
33
Nursing care study: familial periodic paralysis associated with hyperkalaemia. ( 1272880 )
1976
34
Familial periodic paralysis a report and review. ( 1128731 )
1975
35
Assessment of respiratory system changes in a patient with familial periodic paralysis of atypical course. ( 4460757 )
1974
36
Barium-induced skeletal muscle paralysis in the rat, and its relationship to human familial periodic paralysis. ( 4813426 )
1974
37
Familial periodic paralysis. ( 4718690 )
1973
38
Waardenburg's syndrome and familial periodic paralysis. ( 5580938 )
1971
39
Familial periodic paralysis. Biochemical and electrographic correlations. ( 4103513 )
1971
40
Anatomo-electrographic aspects in familial periodic paralysis. ( 5117605 )
1971
41
Observations on a case of familial periodic paralysis. ( 5118242 )
1971
42
Studies on a patient with hypokalemic familial periodic paralysis. ( 5416261 )
1970
43
Ultrastructural changes in adynamia episodica hereditaria and normokalaemic familial periodic paralysis. ( 5790254 )
1969
44
Familial periodic paralysis: report of a case. ( 5184541 )
1968
45
Familial periodic paralysis. ( 5732433 )
1968
46
Direct transition from hypo- to hyperkalaemic paralysis during potassium treatment of familial periodic paralysis. A case. ( 6047305 )
1967
47
Mechanism of muscular paralysis by insulin with particular reference to familial periodic paralysis. ( 5886226 )
1965
48
HISTOPATHOLOGICAL MUSCULAR CHANGES IN FAMILIAL, PERIODIC PARALYSIS. ( 14274088 )
1965
49
FAMILIAL PERIODIC PARALYSIS AND BROMIDE INTOXICATION. ( 14132173 )
1964
50
FAMILIAL PERIODIC PARALYSIS. A REVIEW. ( 14244827 )
1964

Variations for Familial Periodic Paralysis

ClinVar genetic disease variations for Familial Periodic Paralysis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh37 Chromosome 17, 68171341: 68171341
2 KCNJ2 NM_000891.2(KCNJ2): c.161G> T (p.Cys54Phe) single nucleotide variant Pathogenic rs199473650 GRCh38 Chromosome 17, 70175200: 70175200

Expression for Familial Periodic Paralysis

Search GEO for disease gene expression data for Familial Periodic Paralysis.

Pathways for Familial Periodic Paralysis

Pathways related to Familial Periodic Paralysis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 CACNA1S CLCN1 PTPRB RYR1 SCN4A
2
Show member pathways
12.29 CACNA1S KCNJ2 RYR1
3
Show member pathways
12.04 ATP6V0A4 CLCN1 RYR1
4 11.79 CACNA1S KCNE3 KCNJ2
5
Show member pathways
11.75 CACNA1S KCNE3 KCNJ2 RYR1 SCN4A
6 11.27 CACNA1S KCNJ2
7 11.18 KCNE3 KCNJ2
8 11.01 CACNA1S RYR1
9
Show member pathways
11.01 CACNA1S KCNE3 SCN4A
10 10.23 CACNA1S RYR1

GO Terms for Familial Periodic Paralysis

Cellular components related to Familial Periodic Paralysis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.92 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB
2 integral component of plasma membrane GO:0005887 9.8 CLCN1 KCNJ2 PTPRB RYR1 SCN4A
3 plasma membrane GO:0005886 9.76 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB
4 smooth endoplasmic reticulum GO:0005790 9.37 KCNJ2 RYR1
5 I band GO:0031674 9.26 CACNA1S RYR1
6 sarcolemma GO:0042383 9.13 CACNA1S CLCN1 RYR1
7 T-tubule GO:0030315 8.8 CACNA1S KCNJ2 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 CACNA1S CLCN1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.63 ATP6V0A4 CLCN1 RYR1
3 protein homotetramerization GO:0051289 9.48 KCNJ2 RYR1
4 muscle contraction GO:0006936 9.46 CACNA1S CLCN1 RYR1 SCN4A
5 regulation of heart rate by cardiac conduction GO:0086091 9.43 KCNE3 KCNJ2
6 regulation of membrane repolarization GO:0060306 9.37 KCNE3 KCNJ2
7 regulation of ion transmembrane transport GO:0034765 9.35 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A
8 cellular response to caffeine GO:0071313 9.32 CACNA1S RYR1
9 membrane repolarization during action potential GO:0086011 9.26 KCNE3 KCNJ2
10 ion transport GO:0006811 9.17 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.96 CACNA1S RYR1
2 voltage-gated ion channel activity GO:0005244 8.8 CACNA1S KCNJ2 SCN4A

Sources for Familial Periodic Paralysis

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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