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	myotonia congenita

Disease ID	138
Disease	myotonia congenita
Definition	Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. It is classified as Thomsen (autosomal dominant) or Becker (autosomal recessive) generalized myotonia mainly based on the inheritance pattern. Becker type is also clinically more severe. An autosomal dominant variant with milder symptoms and later onset is known as myotonia levior. Mutations in the voltage-dependent skeletal muscle chloride channel are associated with the disorders.
Synonym	batten turner congenital myopathy batten-turner congenital myopathy congenital myotonia generalized myotonia generalized myotonias myopathy, congenital myotonia congen myotonia congenita [disease/finding] myotonia, generalized myotonias, generalized
Orphanet	ORPHANET:206973 ORPHANET:614
OMIM	OMIM:255300 OMIM:255700
DOID	DOID:2106
ICD10	ICD10CM:G71.12
UMLS	C0027127
MeSH	D009224
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0270911 \| charcot-marie-tooth disease type 1a \| 1 C0043202 \| wolff-parkinson-white syndrome \| 1 C0007959 \| charcot-marie-tooth disease \| 1 C0038379 \| strabismus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 6329 \| SCN4A \| CTD_human 1180 \| CLCN1 \| CLINVAR;CTD_human;ORPHANET;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1180 \| CLCN1 \| CIPHER;CTD_human 6329 \| SCN4A \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 7809 \| BSND \| 2.163 \| DISEASES 779 \| CACNA1S \| 2.968 \| DISEASES 875 \| CBS \| 1.754 \| DISEASES 1180 \| CLCN1 \| 8.799 \| DISEASES 1184 \| CLCN5 \| 1.689 \| DISEASES 1186 \| CLCN7 \| 2.11 \| DISEASES 1187 \| CLCNKA \| 2.955 \| DISEASES 1188 \| CLCNKB \| 2.914 \| DISEASES 7555 \| CNBP \| 3.303 \| DISEASES 8451 \| CUL4A \| 2.279 \| DISEASES 8450 \| CUL4B \| 2.576 \| DISEASES 1756 \| DMD \| 1.415 \| DISEASES 1760 \| DMPK \| 3.062 \| DISEASES 3326 \| HSP90AB1 \| 1.941 \| DISEASES 3339 \| HSPG2 \| 1.106 \| DISEASES 102723508 \| KANTR \| 1.51 \| DISEASES 8972 \| MGAM \| 1.297 \| DISEASES 22921 \| MSRB2 \| 3.041 \| DISEASES 89796 \| NAV1 \| 3.697 \| DISEASES 4942 \| OAT \| 1.352 \| DISEASES 112476 \| PRRT2 \| 2.64 \| DISEASES 6261 \| RYR1 \| 3.008 \| DISEASES 6329 \| SCN4A \| 6.641 \| DISEASES
Locus	(Waiting for update.)

Disease ID	138
Disease	myotonia congenita
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0003198 \| Myopathic changes HP:0000707 \| Neurological abnormality
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0009025 \| Increased connective tissue \| 1 HP:0000486 \| Squint eyes \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0001716 \| Wolff-Parkinson-White syndrome \| 1

Disease ID	138
Disease	myotonia congenita
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0427008 \| stiffness C0235169 \| excitability C0030552 \| paresis C0024591 \| malignant hyperthermia
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:30)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs142539932	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143351924	C	T
rs55960271	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143351678	C	A,T
rs762754992	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143341995	C	T
rs774843953	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143332755	T	C
rs80356684	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143320756	A	T
rs80356685	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143321744	C	G
rs80356686	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143321729	G	A
rs80356687	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143324442	C	T
rs80356687	12488428	1180	CLCN1	umls:C0027127	BeFree	We engineered a ribozyme that targets the mRNA of a mutant canine skeletal muscle chloride channel (cClC-1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3' portion by trans-splicing the corresponding 4-kb wild-type sequence.	0.387922294	2002	CLCN1	7	143324442	C	T
rs80356688	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143324486	C	T
rs80356689	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330775	T	C
rs80356690	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330788	C	G,T
rs80356691	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330847	C	T
rs80356692	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330855	G	A
rs80356693	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143339263	C	T
rs80356694	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143339290	C	T
rs80356695	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143339289	C	A
rs80356695	11353420	1180	CLCN1	umls:C0027127	BeFree	A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.	0.387922294	2001	CLCN1	7	143339289	C	A
rs80356696	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143342001	A	G,T
rs80356697	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143342013	T	A
rs80356697	19882638	1180	CLCN1	umls:C0027127	BeFree	A parallel was drawn between this unprecedented situation and that of myotonia congenita by including patients homozygous or heterozygous for the CLCN1 I556N channel mutation, which is known for incomplete dominance and penetrance.	0.387922294	2010	CLCN1	7	143342013	T	A
rs80356698	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143350571	-	CTCA
rs80356699	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143320744	A	G
rs80356700	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143321841	G	A
rs80356701	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330838	T	C
rs80356702	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143330868	G	A
rs80356703	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143331265	G	A
rs80356704	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143341938	C	T
rs80356706	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143351793	C	T
rs80356707	NA	1180	CLCN1	umls:C0027127	CLINVAR	NA	0.387922294	NA	CLCN1	7	143346624	G	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000707	Abnormality of the nervous system	MP:0013620	increased internal diameter of femur	increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000707	Abnormality of the nervous system	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003198	Myopathy	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine

Disease ID	138
Disease	myotonia congenita
Case	(Waiting for update.)