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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Myotonic Disorders (D020967)
..Starting node ..Myotonia Congenita (D009224)
Child Nodes:
........Brody myopathy (C536607)
........MYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
........Myotonia with Skeletal Abnormalities and Mental Retardation (C564967)
........Native American myopathy (C538343)
........Potassium aggravated myotonia (C538353)
Sister Nodes:
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Myotonic Myopathy with Cylindrical Spirals (C563535)
..Paramyotonia congenita of Von Eulenburg (C538616)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7734

Name:

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.

Alternative IDs:

OMIM:255300|OMIM:255700

ParentIDs:

MESH:D020271|MESH:D020967

TreeNumbers:

C05.651.662.500 |C10.574.500.545 |C10.668.491.606.500 |C16.320.400.540

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D009224
MeSH: D009224
OMIM: 255300;

Genes: CLCN1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000707	Abnormality of the nervous system
3	HP:0003198	Myopathy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn)	6261	RYR1	Likely benign;Uncertain significance	138874610	RCV000210007; RCV000147418; RCV000148798;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245; MedGen:CN031421,OMIM:145600; MedGen:CN221809	19	38948887	38948887	NM_000540.2:c.2122G>A	NP_000531.2:p.Asp708Asn	NC_000019.9:g.38948887G>A	-	C0270960 255300 Congenital myopathy; CN031421 145600 Malignant hyperthermia susceptibility type 1; CN221809 not provided
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser)	6261	RYR1	Likely benign	147336515	RCV000148791;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245	19	38954162	38954162	NM_000540.2:c.2677G>A	NP_000531.2:p.Gly893Ser	NC_000019.9:g.38954162G>A	-	C0270960 255300 Congenital myopathy
NM_000540.2(RYR1):c.2956C>T (p.Arg986Cys)	6261	RYR1	Uncertain significance	150993059	RCV000209988; RCV000148809;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245; MedGen:CN031421,OMIM:145600	19	38956816	38956816	NM_000540.2:c.2956C>T	NP_000531.2:p.Arg986Cys	NC_000019.9:g.38956816C>T	-	C0270960 255300 Congenital myopathy; CN031421 145600 Malignant hyperthermia susceptibility type 1
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp)	6261	RYR1	Uncertain significance	200546266	RCV000148819;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245	19	38968461	38968461	NM_000540.2:c.4405C>T	NP_000531.2:p.Arg1469Trp	NC_000019.9:g.38968461C>T	-	C0270960 255300 Congenital myopathy
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr)	6261	RYR1	Benign;Uncertain significance	375626634	RCV000147452; RCV000148825;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245; MedGen:CN169374	19	39008071	39008071	NM_000540.2:c.9758T>C	NP_000531.2:p.Ile3253Thr	NC_000019.9:g.39008071T>C	-	C0270960 255300 Congenital myopathy; CN169374 not specified
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter)	6261	RYR1	Likely benign	377178986	RCV000148788;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245	19	39034060	39034060	NM_000540.2:c.11763C>A	NP_000531.2:p.Tyr3921Ter	NC_000019.9:g.39034060C>A	-	C0270960 255300 Congenital myopathy
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly)	6261	RYR1	Likely benign;Uncertain significance	139647387	RCV000148801; RCV000202653;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245; MedGen:CN234658	19	39057618	39057618	NM_000540.2:c.13505A>G	NP_000531.2:p.Glu4502Gly	NC_000019.9:g.39057618A>G	-	C0270960 255300 Congenital myopathy; CN234658 Malignant hypothermia
NM_000540.2(RYR1):c.14468C>T (p.Thr4823Met)	6261	RYR1	Uncertain significance	148540135	RCV000148829;	N	MedGen:C0270960,OMIM:255300,ORPHA:97245	19	39070725	39070725	NM_000540.2:c.14468C>T	NP_000531.2:p.Thr4823Met	NC_000019.9:g.39070725C>T	-	C0270960 255300 Congenital myopathy