MCID: FML036
MIFTS: 44

Familial Periodic Paralysis

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Periodic Paralysis

MalaCards integrated aliases for Familial Periodic Paralysis:

Name: Familial Periodic Paralysis 12 74 52 29 6 15 71
Genetic Periodic Paralysis 52 58
Paralyses, Familial Periodic 43

Classifications:



External Ids:

Disease Ontology 12 DOID:1029
MeSH 43 D010245
NCIt 49 C84709
SNOMED-CT 67 267607008
ICD10 32 G72.3
ICD10 via Orphanet 33 G72.3
Orphanet 58 ORPHA371433
UMLS 71 C0030443

Summaries for Familial Periodic Paralysis

NIH Rare Diseases : 52 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 genetic periodic paralysis, is related to periodic paralysis and periodic paralyses, and has symptoms including muscle weakness, myalgia and sciatica. An important gene associated with Familial Periodic Paralysis is KCNJ2 (Potassium Inwardly Rectifying Channel Subfamily J Member 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include skeletal muscle, thyroid and small intestine, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common... more...

Related Diseases for Familial Periodic Paralysis

Diseases in the Periodic Paralysis family:

Familial Periodic Paralysis

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 periodic paralysis 31.1 SCN4A RYR1 KCNJ2 KCNJ18 KCNE3 CACNA1S
2 periodic paralyses 30.0 SCN4A KCNJ2 KCNE3 CACNA1S
3 thyrotoxic periodic paralysis 1 30.0 KCNJ18 CACNA1S
4 myotonia 29.9 SCN4A CNBP CLCN1
5 graves disease 1 29.8 SCN4A KCNJ18 INS CACNA1S
6 cardiac arrhythmia 29.8 SCN5A KCNJ2 CACNA1C
7 hyperthyroidism 29.7 KCNJ18 INS CACNA1S
8 hypokalemia 29.2 SLC12A3 SCN4A KCNJ18 INS CACNA1S CACNA1D
9 andersen cardiodysrhythmic periodic paralysis 28.8 SCN5A SCN4A KCNJ2 KCNJ18 KCNJ12 KCNE3
10 peripheral nervous system disease 28.5 SCN4A RYR1 INS CNBP CACNA1A
11 hyperkalemic periodic paralysis 28.1 SCN5A SCN4A SCN2A NAV1 KCNJ2 KCNJ18
12 paramyotonia congenita of von eulenburg 27.5 SCN5A SCN4A SCN2A NAV1 KCNJ2 KCNJ18
13 hypokalemic periodic paralysis, type 1 27.5 TMEM266 SLC12A3 SCN5A SCN4A SCN2A RYR1
14 familial periodic paralyses 11.8
15 myopathy 11.5
16 brugada syndrome 6 10.3 SCN5A KCNE3
17 thyrotoxic periodic paralysis 10.3 KCNJ2 KCNJ18 CACNA1S
18 first-degree atrioventricular block 10.3 SCN5A KCNJ2
19 long qt syndrome 13 10.3 SCN5A KCNJ2
20 malignant hyperthermia susceptibility 10.3 SCN4A RYR1 CACNA1S
21 uvulitis 10.3 KCNJ18 INS
22 long qt syndrome 12 10.3 SCN5A KCNJ2
23 long qt syndrome 10 10.3 SCN5A KCNJ2
24 central core disease of muscle 10.3 RYR1 CACNA1S
25 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.2 SCN5A RYR1 KCNJ2
26 erythromelalgia 10.2 SCN5A SCN4A NAV1
27 long qt syndrome 15 10.2 KCNJ2 CACNA1C
28 metal metabolism disorder 10.2 SCN4A INS CACNA1S
29 familial long qt syndrome 10.1 SCN5A KCNJ2 CACNA1C
30 long qt syndrome 14 10.1 SCN5A KCNJ2 CACNA1C
31 long qt syndrome 6 10.1 SCN5A KCNJ2 CACNA1C
32 myopathy, congenital, bailey-bloch 10.1 RYR1 CACNA1S CACNA1C
33 long qt syndrome 9 10.1 SCN5A KCNJ2 CACNA1C
34 specific learning disability 10.1 RYR1 CACNA1A
35 cardiac arrhythmia, ankyrin-b-related 10.1 SCN5A KCNJ2 CACNA1C
36 second-degree atrioventricular block 10.1 SCN5A CACNA1D
37 hereditary episodic ataxia 10.1 SCN2A CACNA1A
38 long qt syndrome 11 10.1 KCNJ2 CACNA1C
39 neuromuscular junction disease 10.1 SCN5A SCN4A CACNA1C
40 sick sinus syndrome 10.1 SCN5A KCNJ2 CACNA1C
41 right bundle branch block 10.1 SCN5A KCNE3 CACNA1C
42 central nervous system origin vertigo 10.0 SCN2A CACNA1A
43 intrinsic cardiomyopathy 10.0 SCN5A KCNJ2 CACNA1C
44 epileptic encephalopathy, early infantile, 14 10.0 SCN5A SCN2A
45 long qt syndrome 5 10.0 SCN5A KCNJ2 KCNE3 CACNA1C
46 jervell and lange-nielsen syndrome 1 10.0 SCN5A KCNJ2 KCNE3 CACNA1C
47 long qt syndrome 2 9.9 SCN5A KCNJ2 KCNE3 CACNA1C
48 short qt syndrome 9.9 SCN5A KCNJ2 KCNE3 CACNA1C
49 long qt syndrome 3 9.9 SCN5A NAV1 KCNJ2 CACNA1C
50 myasthenic syndrome, congenital, 5 9.9 SCN5A KCNJ2 KCNJ12 CACNA1C

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 cramp, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Familial Periodic Paralysis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CACNA1A CACNA1C CACNA1D CACNA1F CACNA1S CLCN1
2 growth/size/body region MP:0005378 10.11 CACNA1A CACNA1D CACNA1S CLCN1 CNBP INS
3 cardiovascular system MP:0005385 10.1 CACNA1C CACNA1D CACNA1S INS KCNE3 KCNJ12
4 homeostasis/metabolism MP:0005376 10.1 CACNA1A CACNA1C CACNA1D CACNA1S CLCN1 INS
5 mortality/aging MP:0010768 10.03 CACNA1A CACNA1C CACNA1D CACNA1S CLCN1 CNBP
6 muscle MP:0005369 9.81 CACNA1A CACNA1C CACNA1S CLCN1 INS KCNJ2
7 nervous system MP:0003631 9.7 CACNA1A CACNA1C CACNA1D CACNA1F CACNA1S CLCN1
8 respiratory system MP:0005388 9.23 CACNA1A CACNA1S KCNE3 KCNJ2 RYR1 SCN2A

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:

40
Skeletal Muscle, Thyroid, Small Intestine, Testes

Publications for Familial Periodic Paralysis

Articles related to Familial Periodic Paralysis:

(show top 50) (show all 174)
# Title Authors PMID Year
1
The Mary Walker effect: Mary Broadfoot Walker. 61
31497797 2019
2
Short-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype. 61
30516834 2019
3
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. 61
25063199 2014
4
Thyrotoxic periodic paralysis: correct hypokalemia with caution. 61
23849367 2013
5
Genotype and phenotype analysis of patients with sporadic periodic paralysis. 61
21841462 2012
6
A practical approach to genetic hypokalemia. 61
21468196 2010
7
Elementary, my dear Dr. Allen: the case of barium toxicity and Pa Ping. 61
20458073 2010
8
Renal tubular acidosis presenting as respiratory paralysis: report of a case and review of literature. 61
20228475 2010
9
Muscle channelopathies and electrophysiological approach. 61
19966974 2008
10
A case report of familial periodic paralysis. 61
18232179 2007
11
Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. 61
17399643 2007
12
[Mutation of Thr704Met in SCN 4A causes normoKPP in a Chinese family]. 61
16870577 2006
13
Mutation screening in Chinese hypokalemic periodic paralysis patients. 61
16386935 2006
14
The contribution of Dr. Mary Walker towards myasthenia gravis and periodic paralysis whilst working in poor law hospitals in London. 61
16019657 2005
15
Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. 61
15711422 2005
16
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. 61
15642860 2005
17
Propofol-remifentanil target-controlled anesthesia in a patient with hyperkalemic familial periodic paralysis. 61
15281549 2004
18
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 61
15037716 2004
19
[Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]. 61
12536108 2002
20
An expanding view for the molecular basis of familial periodic paralysis. 61
12117476 2002
21
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. 61
12045162 2002
22
[Ion channel abnormalities ("channelopathies") in neurologic diseases]. 61
11883365 2002
23
[Hypokalemic thyrotoxic periodic paralysis: a case report]. 61
12017751 2002
24
Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). 61
14993329 2001
25
Hypokalaemia and paralysis. 61
11259688 2001
26
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10851401 2000
27
Thyrotoxic hypokalemic periodic paralysis case report and review of the literature. 61
10812764 2000
28
A paper which changed clinical practice (slowly). Jacob Holler on potassium deficiency in diabetic acidosis (1946). 61
10656225 1999
29
[Thyrotoxic periodic paralysis]. 61
10487108 1999
30
Recurrent calcium oxalate urolithiasis in a man with familial periodic paralysis and hypokalemia. 61
10332462 1999
31
Defective slow inactivation of sodium channels contributes to familial periodic paralysis. 61
10227633 1999
32
Bidirectional ventricular tachycardia and familial periodic paralysis: a case report. 61
10407550 1999
33
Contemporary opinions about Mary Walker: a shy pioneer of therapeutic neurology. 61
9818874 1998
34
Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline. 61
9628312 1998
35
[Current status of clinical and molecular-biological research on familial periodic paralysis]. 61
9436444 1997
36
Index of suspicion. Case 3. Familial periodic paralysis. 61
9311251 1997
37
Prolonged muscle weakness following emergency tonsillectomy in a patient with familial periodic paralysis and infectious mononucleosis. 61
9188121 1997
38
Periodic paralysis and ventricular tachycardia: possible role of calcium channel blockers. 61
8778698 1996
39
[Anesthesia in familial hyperkalemic periodic paralysis]. 61
8324104 1993
40
[Anesthesia in a case of hyperkalemic familial periodic paralysis]. 61
8465076 1993
41
Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature. 61
1635436 1992
42
Atracurium use in a patient with familial periodic paralysis. 61
1878236 1991
43
Successful anesthetic management of a patient with hypokalemic familial periodic paralysis undergoing cardiac surgery. 61
1990915 1991
44
[A case of sporadic hypokalemic form of familial periodic paralysis]. 61
2099006 1990
45
Propofol and atracurium in familial periodic paralysis. 61
2619007 1989
46
Thyrotoxic periodic paralysis in a Latin-American taking acetazolamide. 61
2719059 1989
47
Atracurium and hypokalemic familial periodic paralysis. 61
3394967 1988
48
A new syndrome: angiotensin-converting enzyme dysfunction syndrome: differential diagnosis and pathogenesis--case reports. 61
3277490 1988
49
Hypokalemic familial periodic paralysis: a case report. 61
3590406 1987
50
Anesthetic management of a patient with hypokalemic familial periodic paralysis for coronary artery bypass surgery. 61
3876787 1985

Variations for Familial Periodic Paralysis

ClinVar genetic disease variations for Familial Periodic Paralysis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ2 NM_000891.2(KCNJ2):c.161G>T (p.Cys54Phe)SNV Pathogenic 30119 rs199473650 17:68171341-68171341 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:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SCN5A SCN4A SCN2A RYR1 CLCN1 CACNA1S
2
Show member pathways
13.45 SCN5A SCN4A SCN2A INS CACNA1S CACNA1D
3
Show member pathways
13 SCN5A SCN4A SCN2A CACNA1S CACNA1F CACNA1D
4
Show member pathways
12.87 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
5
Show member pathways
12.86 INS CACNA1S CACNA1F CACNA1D CACNA1C
6
Show member pathways
12.84 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
7
Show member pathways
12.82 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
8
Show member pathways
12.81 RYR1 INS CACNA1S CACNA1D CACNA1C CACNA1A
9 12.77 INS CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
10
Show member pathways
12.66 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
11
Show member pathways
12.65 SLC12A3 SCN5A SCN4A SCN2A CLCN1
12
Show member pathways
12.58 CACNA1S CACNA1F CACNA1D CACNA1C
13
Show member pathways
12.58 RYR1 KCNJ2 KCNJ18 KCNJ12 CACNA1S CACNA1F
14
Show member pathways
12.57 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
15
Show member pathways
12.53 RYR1 CACNA1S CACNA1D CACNA1C CACNA1A
16
Show member pathways
12.53 SCN5A INS CACNA1S CACNA1F CACNA1D CACNA1C
17
Show member pathways
12.49 RYR1 CACNA1S CACNA1D CACNA1C
18
Show member pathways
12.42 SCN5A SCN4A SCN2A RYR1 KCNJ2 KCNJ12
19
Show member pathways
12.38 RYR1 KCNJ2 KCNJ18 KCNJ12 CACNA1S CACNA1F
20
Show member pathways
12.34 INS CACNA1D CACNA1C CACNA1A
21
Show member pathways
12.32 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
22 12.31 CACNA1S CACNA1F CACNA1D CACNA1C
23
Show member pathways
12.27 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
24
Show member pathways
12.24 CACNA1S CACNA1F CACNA1D CACNA1C
25
Show member pathways
12.15 CACNA1S CACNA1F CACNA1D CACNA1C
26 12.13 CACNA1S CACNA1F CACNA1D CACNA1C
27 12.12 KCNJ2 KCNJ12 KCNE3 CACNA1S CACNA1F CACNA1D
28 12.09 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
29
Show member pathways
12.06 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
30
Show member pathways
12.03 INS CLCN1 CACNA1S CACNA1D CACNA1C
31
Show member pathways
11.98 SCN5A SCN4A SCN2A
32
Show member pathways
11.97 SCN2A CACNA1C CACNA1A
33 11.97 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
34
Show member pathways
11.91 INS CACNA1D CACNA1C CACNA1A
35 11.85 CACNA1S CACNA1F CACNA1D CACNA1C
36 11.73 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
37 11.71 KCNJ2 CACNA1S CACNA1F CACNA1D CACNA1C
38 11.69 CACNA1S CACNA1F CACNA1D CACNA1C
39 11.59 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
40 11.55 SCN5A KCNJ2 KCNE3 CACNA1D CACNA1C
41 11.46 RYR1 CACNA1S CACNA1D CACNA1C CACNA1A
42 11.39 CACNA1S CACNA1D CACNA1C
43 11.29 SCN5A SCN4A SCN2A
44 11.15 CACNA1D CACNA1C CACNA1A
45
Show member pathways
11.11 CACNA1F CACNA1D CACNA1C
46
Show member pathways
11.1 SCN5A SCN4A SCN2A KCNE3 CACNA1S CACNA1F
47 10.82 CACNA1D CACNA1C CACNA1A
48 10.76 RYR1 CACNA1S

GO Terms for Familial Periodic Paralysis

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 TMEM266 SLC12A3 SCN5A SCN4A SCN2A RYR1
2 integral component of membrane GO:0016021 10.16 TMEM266 SLC12A3 SCN5A SCN4A SCN2A RYR1
3 integral component of plasma membrane GO:0005887 10.06 TMEM266 SLC12A3 SCN4A SCN2A RYR1 KCNJ2
4 plasma membrane GO:0005886 10.06 TMEM266 SLC12A3 SCN5A SCN4A SCN2A RYR1
5 dendrite GO:0030425 9.92 TMEM266 KCNJ2 KCNE3 CACNA1C CACNA1A
6 perikaryon GO:0043204 9.8 TMEM266 KCNE3 CACNA1F CACNA1C
7 Z disc GO:0030018 9.73 SCN5A RYR1 CACNA1D CACNA1C
8 sarcolemma GO:0042383 9.71 SCN5A RYR1 CLCN1 CACNA1C
9 intercalated disc GO:0014704 9.69 SCN5A SCN2A KCNJ2
10 intrinsic component of membrane GO:0031224 9.54 KCNJ2 KCNJ12
11 voltage-gated sodium channel complex GO:0001518 9.54 SCN5A SCN4A SCN2A
12 L-type voltage-gated calcium channel complex GO:1990454 9.5 CACNA1S CACNA1D CACNA1C
13 voltage-gated calcium channel complex GO:0005891 9.35 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
14 T-tubule GO:0030315 9.1 SCN5A SCN2A RYR1 KCNJ2 CACNA1S CACNA1C

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 10 SCN5A SCN2A RYR1 CLCN1 CACNA1D CACNA1A
2 calcium ion transport GO:0006816 9.95 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
3 transmembrane transport GO:0055085 9.93 TMEM266 SLC12A3 SCN5A SCN4A SCN2A RYR1
4 calcium ion transmembrane transport GO:0070588 9.91 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
5 muscle contraction GO:0006936 9.89 SCN4A RYR1 KCNJ12 CLCN1 CACNA1S
6 potassium ion transport GO:0006813 9.88 KCNJ2 KCNJ18 KCNJ12 KCNE3
7 sodium ion transport GO:0006814 9.88 SLC12A3 SCN5A SCN4A SCN2A
8 sodium ion transmembrane transport GO:0035725 9.85 SLC12A3 SCN5A SCN4A SCN2A
9 potassium ion import across plasma membrane GO:1990573 9.81 SLC12A3 KCNJ2 KCNJ18 KCNJ12
10 cardiac conduction GO:0061337 9.8 SCN5A KCNJ2 KCNJ12 CACNA1S CACNA1F CACNA1D
11 regulation of insulin secretion GO:0050796 9.79 CACNA1D CACNA1C CACNA1A
12 protein homotetramerization GO:0051289 9.79 RYR1 KCNJ2 KCNJ12
13 regulation of heart rate by cardiac conduction GO:0086091 9.77 SCN5A KCNJ2 KCNE3 CACNA1D CACNA1C
14 regulation of ion transmembrane transport GO:0034765 9.77 SCN5A SCN4A SCN2A KCNJ2 KCNJ18 KCNJ12
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.76 SCN5A KCNJ2 CACNA1D CACNA1C
16 neuronal action potential GO:0019228 9.73 SCN5A SCN4A SCN2A
17 calcium ion import GO:0070509 9.72 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
18 membrane depolarization during action potential GO:0086010 9.71 SCN5A SCN4A SCN2A
19 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.71 SCN5A KCNJ2 CACNA1D CACNA1C
20 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.65 SCN5A KCNE3
21 membrane depolarization GO:0051899 9.65 SCN5A CACNA1A
22 ventricular cardiac muscle cell action potential GO:0086005 9.64 SCN5A KCNE3
23 regulation of cardiac muscle cell contraction GO:0086004 9.64 SCN5A KCNJ2
24 cellular response to caffeine GO:0071313 9.63 RYR1 CACNA1S
25 membrane repolarization during action potential GO:0086011 9.63 KCNJ2 KCNE3
26 positive regulation of adenylate cyclase activity GO:0045762 9.62 CACNA1D CACNA1C
27 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.61 SCN5A CACNA1D
28 membrane depolarization during SA node cell action potential GO:0086046 9.6 SCN5A CACNA1D
29 membrane depolarization during AV node cell action potential GO:0086045 9.59 SCN5A CACNA1C
30 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.57 SCN5A CACNA1C
31 ion transport GO:0006811 9.5 SLC12A3 SCN5A SCN4A SCN2A RYR1 KCNJ2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.8 SCN5A RYR1 CACNA1S CACNA1C
2 calcium channel activity GO:0005262 9.8 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
3 voltage-gated calcium channel activity GO:0005245 9.73 RYR1 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
4 cation channel activity GO:0005261 9.65 SCN5A SCN4A SCN2A
5 sodium channel activity GO:0005272 9.61 SCN5A SCN4A SCN2A
6 ion channel activity GO:0005216 9.61 SCN5A SCN4A SCN2A RYR1 CACNA1S CACNA1F
7 voltage-gated sodium channel activity GO:0005248 9.58 SCN5A SCN4A SCN2A
8 high voltage-gated calcium channel activity GO:0008331 9.55 CACNA1S CACNA1F CACNA1D CACNA1C CACNA1A
9 inward rectifier potassium channel activity GO:0005242 9.54 KCNJ2 KCNJ18 KCNJ12
10 ankyrin binding GO:0030506 9.52 SCN5A CACNA1D
11 alpha-actinin binding GO:0051393 9.51 CACNA1D CACNA1C
12 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.46 CACNA1D CACNA1C
13 voltage-gated ion channel activity GO:0005244 9.44 SCN5A SCN4A SCN2A KCNJ2 KCNJ18 KCNJ12

Sources for Familial Periodic Paralysis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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