MCID: HYP142
MIFTS: 14

Hyperkalemic Periodic Paralysis Type 1

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperkalemic Periodic Paralysis Type 1

MalaCards integrated aliases for Hyperkalemic Periodic Paralysis Type 1:

Name: Hyperkalemic Periodic Paralysis Type 1 24 29
Hyperpp Type 1 24

Classifications:



Summaries for Hyperkalemic Periodic Paralysis Type 1

MalaCards based summary : Hyperkalemic Periodic Paralysis Type 1, is also known as hyperpp type 1. An important gene associated with Hyperkalemic Periodic Paralysis Type 1 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). The drugs Lamotrigine and Anticonvulsants have been mentioned in the context of this disorder.

Related Diseases for Hyperkalemic Periodic Paralysis Type 1

Diseases in the Hyperkalemic Periodic Paralysis, Type 2 family:

Hyperkalemic Periodic Paralysis Type 1

Symptoms & Phenotypes for Hyperkalemic Periodic Paralysis Type 1

Drugs & Therapeutics for Hyperkalemic Periodic Paralysis Type 1

Drugs for Hyperkalemic Periodic Paralysis Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2 Anticonvulsants Phase 3
3 calcium channel blockers Phase 3
4 Calcium, Dietary Phase 3
5 Diuretics, Potassium Sparing Phase 3
6 Excitatory Amino Acid Antagonists Phase 3
7 Excitatory Amino Acids Phase 3
8 Neurotransmitter Agents Phase 3
9 Sodium Channel Blockers Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo

Search NIH Clinical Center for Hyperkalemic Periodic Paralysis Type 1

Genetic Tests for Hyperkalemic Periodic Paralysis Type 1

Genetic tests related to Hyperkalemic Periodic Paralysis Type 1:

id Genetic test Affiliating Genes
1 Hyperkalemic Periodic Paralysis Type 1 29 24 SCN4A

Anatomical Context for Hyperkalemic Periodic Paralysis Type 1

Publications for Hyperkalemic Periodic Paralysis Type 1

Articles related to Hyperkalemic Periodic Paralysis Type 1:

id Title Authors Year
1
Hyperkalemic Periodic Paralysis Type 1 ( 20301669 )
1993

Variations for Hyperkalemic Periodic Paralysis Type 1

ClinVar genetic disease variations for Hyperkalemic Periodic Paralysis Type 1:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1 SCN4A NM_000334.4(SCN4A): c.2111C> T (p.Thr704Met) single nucleotide variant Pathogenic rs80338957 GRCh37 Chromosome 17, 62034787: 62034787
2 SCN4A NM_000334.4(SCN4A): c.4774A> G (p.Met1592Val) single nucleotide variant Pathogenic rs80338962 GRCh37 Chromosome 17, 62018868: 62018868
3 SCN4A NM_000334.4(SCN4A): c.4342C> T (p.Arg1448Cys) single nucleotide variant Pathogenic rs121908544 GRCh37 Chromosome 17, 62019300: 62019300
4 SCN4A NM_000334.4(SCN4A): c.4343G> A (p.Arg1448His) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
5 SCN4A NM_000334.4(SCN4A): c.3466G> A (p.Ala1156Thr) single nucleotide variant Pathogenic rs80338958 GRCh37 Chromosome 17, 62022974: 62022974
6 SCN4A NM_000334.4(SCN4A): c.2023C> T (p.Arg675Trp) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
7 SCN4A NM_000334.4(SCN4A): c.2006G> A (p.Arg669His) single nucleotide variant Pathogenic rs80338784 GRCh37 Chromosome 17, 62036638: 62036638
8 SCN4A NM_000334.4(SCN4A): c.2015G> A (p.Arg672His) single nucleotide variant Pathogenic rs80338788 GRCh37 Chromosome 17, 62036629: 62036629
9 SCN4A NM_000334.4(SCN4A): c.2014C> G (p.Arg672Gly) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
10 SCN4A NM_000334.4(SCN4A): c.2014C> A (p.Arg672Ser) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
11 SCN4A NM_000334.4(SCN4A): c.2023C> G (p.Arg675Gly) single nucleotide variant Pathogenic rs121908556 GRCh37 Chromosome 17, 62034875: 62034875
12 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh37 Chromosome 17, 62034874: 62034874
13 SCN4A NM_000334.4(SCN4A): c.2078T> C (p.Ile693Thr) single nucleotide variant Pathogenic rs80338956 GRCh37 Chromosome 17, 62034820: 62034820
14 SCN4A NM_000334.4(SCN4A): c.2014C> T (p.Arg672Cys) single nucleotide variant Pathogenic rs80338785 GRCh37 Chromosome 17, 62036630: 62036630
15 SCN4A NM_000334.4(SCN4A): c.2065C> A (p.Leu689Ile) single nucleotide variant Pathogenic rs80338955 GRCh37 Chromosome 17, 62034833: 62034833
16 SCN4A NM_000334.4(SCN4A): c.4078A> G (p.Met1360Val) single nucleotide variant Pathogenic rs80338959 GRCh37 Chromosome 17, 62020396: 62020396
17 SCN4A NM_000334.4(SCN4A): c.4108A> G (p.Met1370Val) single nucleotide variant Pathogenic rs80338960 GRCh37 Chromosome 17, 62020366: 62020366
18 SCN4A NM_000334.4(SCN4A): c.4483A> T (p.Ile1495Phe) single nucleotide variant Pathogenic rs80338961 GRCh37 Chromosome 17, 62019159: 62019159
19 SCN4A NM_000334.4(SCN4A): c.4343G> C (p.Arg1448Pro) single nucleotide variant Pathogenic rs121908545 GRCh37 Chromosome 17, 62019299: 62019299
20 SCN4A NM_000334.4(SCN4A): c.4342C> A (p.Arg1448Ser) single nucleotide variant Pathogenic rs121908544 GRCh37 Chromosome 17, 62019300: 62019300
21 SCN4A NM_000334.4(SCN4A): c.1320T> G (p.Asn440Lys) single nucleotide variant Pathogenic rs864622785 GRCh37 Chromosome 17, 62041960: 62041960

Expression for Hyperkalemic Periodic Paralysis Type 1

Search GEO for disease gene expression data for Hyperkalemic Periodic Paralysis Type 1.

Pathways for Hyperkalemic Periodic Paralysis Type 1

GO Terms for Hyperkalemic Periodic Paralysis Type 1

Sources for Hyperkalemic Periodic Paralysis Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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