MCID: FML036
MIFTS: 41

Familial Periodic Paralysis

Categories: Rare diseases, Metabolic diseases, Genetic 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
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 familial periodic paralyses, and has symptoms including muscle cramp, muscle rigidity and muscle spasticity. 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 Ion channel transport. Affiliated tissues include thyroid and skeletal muscle, 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 29)
# Related Disease Score Top Affiliating Genes
1 hypokalemic periodic paralysis, type 1 27.2 ATP6V0A4 CACNA1S CLCN1 KCNE3 KCNJ2 QDPR
2 familial periodic paralyses 11.5
3 graves disease 1 10.4 CACNA1S SCN4A
4 metal metabolism disorder 10.3 CACNA1S SCN4A
5 thyrotoxic periodic paralysis 10.3 CACNA1S KCNJ2
6 myotonia 10.1 CLCN1 SCN4A
7 malignant hyperthermia of anesthesia 10.1 CACNA1S RYR1
8 andersen cardiodysrhythmic periodic paralysis 10.1 CACNA1S KCNJ2 SCN4A
9 central core disease of muscle 10.0 CACNA1S RYR1
10 brody myopathy 9.9 CLCN1 RYR1
11 myotonia congenita 9.9 CACNA1S CLCN1 SCN4A
12 muscle disorders 9.9 CLCN1 RYR1
13 hypokalemic periodic paralysis, type 2 9.9 QDPR SCN4A
14 malignant hyperthermia susceptibility 9.7 CACNA1S RYR1 SCN4A
15 catecholaminergic polymorphic ventricular tachycardia 9.7 KCNJ2 RYR1
16 polyglucosan body myopathy 1 with or without immunodeficiency 9.7
17 charcot-marie-tooth disease 9.7
18 tooth disease 9.7
19 hypokalemia 9.7
20 waardenburg's syndrome 9.7
21 muscle tissue disease 9.7 CLCN1 RYR1
22 periodic paralyses 9.6 CACNA1S KCNE3 KCNJ2 SCN4A
23 myotonic disease 9.6 CLCN1 RYR1 SCN4A
24 neuromuscular disease 9.4 RYR1 SCN4A
25 myopathy, tubular aggregate, 1 9.3 QDPR RYR1
26 central core myopathy 9.2 CACNA1S QDPR RYR1
27 native american myopathy 9.2 CACNA1S QDPR RYR1
28 malignant hyperthermia 8.8 CACNA1S QDPR RYR1 SCN4A
29 hyperkalemic periodic paralysis 8.5 CACNA1S CLCN1 KCNE3 KCNJ2 PTPRB SCN4A

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

MGI Mouse Phenotypes related to Familial Periodic Paralysis:

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

Publications for Familial Periodic Paralysis

Articles related to Familial Periodic Paralysis:

(show all 22)
# 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
[Hypokalemic familial periodic paralysis with basal electrocardiographic changes]. ( 198889 )
1977
22
Waardenburg's syndrome and familial periodic paralysis. ( 5580938 )
1971

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
13.08 CACNA1S CLCN1 PTPRB RYR1 SCN4A
2
Show member pathways
12.04 ATP6V0A4 CLCN1 RYR1
3 11.79 CACNA1S KCNE3 KCNJ2
4
Show member pathways
11.75 CACNA1S KCNE3 KCNJ2 RYR1 SCN4A
5 11.27 CACNA1S KCNJ2
6 11.15 KCNE3 KCNJ2
7 11.01 CACNA1S RYR1
8
Show member pathways
11.01 CACNA1S KCNE3 SCN4A
9 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 9.97 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 9.32 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.71 CACNA1S CLCN1 RYR1 SCN4A
2 ion transmembrane transport GO:0034220 9.56 ATP6V0A4 CLCN1 RYR1 SCN4A
3 protein homotetramerization GO:0051289 9.49 KCNJ2 RYR1
4 cardiac conduction GO:0061337 9.48 CACNA1S KCNJ2
5 regulation of heart rate by cardiac conduction GO:0086091 9.46 KCNE3 KCNJ2
6 muscle contraction GO:0006936 9.46 CACNA1S CLCN1 RYR1 SCN4A
7 membrane depolarization during action potential GO:0086010 9.43 CACNA1S SCN4A
8 regulation of membrane repolarization GO:0060306 9.37 KCNE3 KCNJ2
9 regulation of ion transmembrane transport GO:0034765 9.35 CACNA1S CLCN1 KCNE3 KCNJ2 SCN4A
10 cellular response to caffeine GO:0071313 9.32 CACNA1S RYR1
11 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 cation channel activity GO:0005261 9.16 CACNA1S SCN4A
2 voltage-gated calcium channel activity GO:0005245 8.96 CACNA1S RYR1
3 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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