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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   paramyotonia congenita
  

Disease ID 1006
Disease paramyotonia congenita
Definition
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. It is characterized by muscle stiffness, which is increased by exposure to cold or activity, and usually eases when the patient warms up through physical activity.
Synonym
eulenburg dis
eulenburg disease
eulenburg syndrome
eulenburg's disease
eulenburgs dis
paralysis periodica paramyotonia
paralysis periodica paramyotonica
paramyotonia congen
paramyotonia congenita (disorder)
paramyotonia congenita (of von eulenburg)
paramyotonia congenita of von eulenberg
paramyotonia congenita of von eulenburg
von eulenberg disease
von eulenberg's disease
Orphanet
OMIM
UMLS
C0221055
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
6329  |  SCN4A  |  UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1006
Disease paramyotonia congenita
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1006
Disease paramyotonia congenita
Manually Symptom
UMLS  | Name(Total Manually Symptoms:5)
C2364118  |  weakness
C0238357  |  hyperkalaemic periodic paralysis
C0235169  |  excitability
C0024591  |  malignant hyperthermia
C0009269  |  cold sensitivity
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
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:15)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs12190854491301566329SCN4Aumls:C0221055BeFreeUsing macropatches, the effect of PC mutations R1448C and T1313M were compared with wild-type (WT) in Xenopus oocytes coinjected with both alpha- and beta-subunits of human skeletal muscle (SkM1) sodium channels.0.1284146981997SCN4A1763941940GA
rs12190854480055996329SCN4Aumls:C0221055BeFreeThe present eighteen PC families exhibit two different mutations (R1448C and R1448H) on various SCN4A dinucleotide repeat haplotypes and therefore the majority of the mutations probably occurred independently.0.1284146981994SCN4A1763941940GA
rs121908544124830176329SCN4Aumls:C0221055BeFreeA Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.0.1284146982002SCN4A1763941940GA
rs12190854491969046329SCN4Aumls:C0221055BeFreeC4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg)--correlations with clinical, neurophysiological and muscle biopsy data.0.1284146981997SCN4A1763941940GA
rs121908544168010396329SCN4Aumls:C0221055BeFreeThis case demonstrates that SCN4A Arg1448Cys can produce paralysis periodica paramyotonica.0.1284146982006SCN4A1763941940GA
rs12190854580055996329SCN4Aumls:C0221055BeFreeThe present eighteen PC families exhibit two different mutations (R1448C and R1448H) on various SCN4A dinucleotide repeat haplotypes and therefore the majority of the mutations probably occurred independently.0.1284146981994SCN4A1763941939CT
rs12190854791301566329SCN4Aumls:C0221055BeFreeUsing macropatches, the effect of PC mutations R1448C and T1313M were compared with wild-type (WT) in Xenopus oocytes coinjected with both alpha- and beta-subunits of human skeletal muscle (SkM1) sodium channels.0.1284146981997SCN4A1763943825GA
rs121908547212206856329SCN4Aumls:C0221055BeFreeA child carrying the Thr1313Met SCN4A mutation associated with paramyotonia congenita.0.1284146982011SCN4A1763943825GA
rs121908548166245586329SCN4Aumls:C0221055BeFreeWe report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita.0.1284146982006SCN4A1763941517CT
rs12190855185804276329SCN4Aumls:C0221055BeFreeParamyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).0.1284146981995SCN4A1763944708CT
rs121908552258391086329SCN4Aumls:C0221055BeFreeAs a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.0.1284146982016SCN4A;LOC1053718581763964587CT
rs121908557258391086329SCN4Aumls:C0221055BeFreeAs a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.0.1284146982016SCN4A1763957514CT
rs80338957190770436329SCN4Aumls:C0221055BeFreeTubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.0.1284146982009SCN4A1763957427GA
rs80338957129339536329SCN4Aumls:C0221055BeFreeSevere infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.0.1284146982003SCN4A1763957427GA
rs80338962216654796329SCN4Aumls:C0221055BeFreeSevere phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.0.1284146982011SCN4A1763941508TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1006
Disease paramyotonia congenita
Case(Waiting for update.)