MCAD
MCID: MYT027
MIFTS: 40

Myotonia Congenita, Autosomal Dominant (MCAD)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Myotonia Congenita, Autosomal Dominant

MalaCards integrated aliases for Myotonia Congenita, Autosomal Dominant:

Name: Myotonia Congenita, Autosomal Dominant 57 73 38
Myotonia Levior 73 28 5 71
Myotonia Congenita, Dominant 57 12
Thomsen Disease 57 73
Thd 57 73
Myotonia Congenita Autosomal Dominant 5
Generalized Myotonia of Thomsen 71
Mcad 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood, adolescence
highly variable phenotype and severity
cold temperatures exacerbate symptoms
warm weather and alcohol are alleviating factors
affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause
worldwide prevalence of 1/100,000
increased prevalence in northern finland (7.3/100,000)
see also autosomal recessive form , which is more common and more severe


Classifications:



External Ids:

OMIM® 57 160800
MeSH 43 D009224
SNOMED-CT via HPO 69 16046003 68962001
UMLS 71 C0270959 C2936781

Summaries for Myotonia Congenita, Autosomal Dominant

UniProtKB/Swiss-Prot: 73 A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).

MalaCards based summary: Myotonia Congenita, Autosomal Dominant, also known as myotonia levior, is related to myotonia congenita and myotonia congenita, autosomal recessive, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita, Autosomal Dominant is CLCN1 (Chloride Voltage-Gated Channel 1). Affiliated tissues include skeletal muscle, tongue and liver, and related phenotypes are muscle stiffness and myalgia

OMIM®: 57 Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease. See also paramyotonia congenita (PMC; 168300) and potassium-aggravated myotonia (608390), overlapping phenotypes caused by mutations in the SCN4A gene (603967). (160800) (Updated 08-Dec-2022)

Related Diseases for Myotonia Congenita, Autosomal Dominant

Diseases in the Myotonia Congenita family:

Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive

Diseases related to Myotonia Congenita, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 myotonia congenita 31.9 LOC123956257 CLCN1
2 myotonia congenita, autosomal recessive 31.3 LOC123956257 CLCN1
3 endomyocardial fibrosis 29.5 LOC123956257 CLCN1
4 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.6
5 acyl-coa dehydrogenase, medium-chain, deficiency of 11.6
6 segawa syndrome, autosomal recessive 11.3
7 monoclonal mast cell activation syndrome 11.0
8 mast cell activation syndrome 11.0
9 hemorrhoid 10.5
10 acyl-coa dehydrogenase deficiency 10.4
11 sudden infant death syndrome 10.4
12 hypoglycemia 10.4
13 ocular motor apraxia 10.3
14 myotonia 10.3
15 abdominal obesity-metabolic syndrome 1 10.3
16 skin tag 10.2
17 phenylketonuria 10.2
18 inherited metabolic disorder 10.1
19 batten-turner congenital myopathy 10.1
20 muscle hypertrophy 10.1
21 cardiac arrest 10.1
22 reye syndrome 10.1
23 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
24 acyl-coa dehydrogenase, very long-chain, deficiency of 10.0
25 ataxia with vitamin e deficiency 10.0
26 congenital hypothyroidism 10.0
27 brugada syndrome 10.0
28 non-alcoholic fatty liver disease 10.0
29 hypothyroidism 10.0
30 hypoglycemic coma 10.0
31 lipid metabolism disorder 10.0
32 encephalopathy 10.0
33 portal hypertension 9.9
34 anus disease 9.9
35 thoracic cancer 9.9
36 chronic pain 9.9
37 ptosis 9.9
38 myotonic disease 9.9
39 intussusception 9.8
40 acyl-coa dehydrogenase, short-chain, deficiency of 9.8
41 lipoid congenital adrenal hyperplasia 9.8
42 cystic fibrosis 9.8
43 galactosemia i 9.8
44 ceroid lipofuscinosis, neuronal, 5 9.8
45 taqi polymorphism 9.8
46 ventricular fibrillation, paroxysmal familial, 1 9.8
47 sickle cell anemia 9.8
48 fatty liver disease 1 9.8
49 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 9.8
50 exanthem 9.8

Graphical network of the top 20 diseases related to Myotonia Congenita, Autosomal Dominant:



Diseases related to Myotonia Congenita, Autosomal Dominant

Symptoms & Phenotypes for Myotonia Congenita, Autosomal Dominant

Human phenotypes related to Myotonia Congenita, Autosomal Dominant:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle stiffness 30 Very rare (1%) HP:0003552
2 myalgia 30 Very rare (1%) HP:0003326
3 skeletal muscle hypertrophy 30 Very rare (1%) HP:0003712
4 handgrip myotonia 30 Very rare (1%) HP:0012899
5 percussion myotonia 30 Very rare (1%) HP:0010548
6 myotonia with warm-up phenomenon 30 Very rare (1%) HP:0003740
7 lid lag on downgaze 30 Very rare (1%) HP:0025605
8 emg: myotonic runs 30 HP:0003730

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Muscle Soft Tissue:
muscle stiffness
handgrip myotonia
percussion myotonia
myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)
myotonia is most pronounced in the extremities
more
Head And Neck Mouth:
tongue myotonia

Head And Neck Eyes:
lid lag
eyelid myotonia

Clinical features from OMIM®:

160800 (Updated 08-Dec-2022)

UMLS symptoms related to Myotonia Congenita, Autosomal Dominant:


muscular stiffness; lid lag

Drugs & Therapeutics for Myotonia Congenita, Autosomal Dominant

Search Clinical Trials, NIH Clinical Center for Myotonia Congenita, Autosomal Dominant

Genetic Tests for Myotonia Congenita, Autosomal Dominant

Genetic tests related to Myotonia Congenita, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Myotonia Levior 28

Anatomical Context for Myotonia Congenita, Autosomal Dominant

Organs/tissues related to Myotonia Congenita, Autosomal Dominant:

MalaCards : Skeletal Muscle, Tongue, Liver, Heart, Whole Blood, Adipocyte, Kidney

Publications for Myotonia Congenita, Autosomal Dominant

Articles related to Myotonia Congenita, Autosomal Dominant:

(show top 50) (show all 823)
# Title Authors PMID Year
1
Myotonia levior is a chloride channel disorder. 62 57 5
7581380 1995
2
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel. 57 5
29935101 2018
3
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 57 5
18337100 2009
4
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 57 5
11840191 2001
5
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 57 5
8112288 1994
6
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 57 5
7981750 1993
7
The skeletal muscle chloride channel in dominant and recessive human myotonia. 57 5
1379744 1992
8
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita. 62 5
32117024 2020
9
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease). 62 5
29405036 2017
10
Myotonia congenita: novel mutations in CLCN1 gene. 62 5
26260254 2015
11
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 62 5
24349310 2013
12
Recessive CLCN1 mutation presenting as Thomsen disease. 62 5
18816629 2008
13
A novel alteration of muscle chloride channel gating in myotonia levior. 62 5
12456816 2002
14
Novel muscle chloride channel mutations and their effects on heterozygous carriers. 62 5
8571958 1996
15
Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35. 62 57
1386711 1992
16
Myotonia levior: contribution to the nosography. 62 57
3231989 1988
17
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. 57
34529042 2022
18
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. 5
32721234 2020
19
Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents. 5
29480456 2018
20
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. 5
29606556 2018
21
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. 5
29424939 2018
22
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 5
28427807 2017
23
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. 5
27614575 2016
24
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia. 5
27582597 2016
25
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. 5
27580824 2016
26
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. 5
27296017 2016
27
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
28
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 5
27142102 2016
29
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 5
26510092 2016
30
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 5
26502825 2015
31
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 5
26096614 2015
32
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 5
26007199 2015
33
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels. 5
26021757 2015
34
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 5
25065301 2015
35
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 5
25036107 2014
36
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. 5
24515601 2014
37
Chloride channels in myotonia congenita assessed by velocity recovery cycles. 5
24037712 2014
38
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 5
23893571 2014
39
Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita. 5
24625573 2014
40
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 5
23933576 2013
41
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. 5
24304580 2013
42
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 5
23739125 2013
43
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 5
23810313 2013
44
Prevalence study of genetically defined skeletal muscle channelopathies in England. 5
23516313 2013
45
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. 5
23483815 2013
46
An informatics approach to analyzing the incidentalome. 5
22995991 2013
47
Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. 5
22921319 2013
48
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. 5
23424641 2013
49
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]. 5
23225051 2012
50
New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 5
23152584 2012

Variations for Myotonia Congenita, Autosomal Dominant

ClinVar genetic disease variations for Myotonia Congenita, Autosomal Dominant:

5 (show top 50) (show all 615)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN1 NC_000007.14:g.(?_143324401)_(143331662_?)del DEL Pathogenic
832454 GRCh37: 7:143021494-143028755
GRCh38:
2 CLCN1 NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) SNV Pathogenic
17548 rs121912810 GRCh37: 7:143018811-143018811
GRCh38: 7:143321718-143321718
3 CLCN1 NM_000083.3(CLCN1):c.50_434-202del DEL Pathogenic
580190 GRCh37: 7:143013350-143018251
GRCh38: 7:143316257-143321158
4 CLCN1 NM_000083.3(CLCN1):c.475del (p.Leu159fs) DEL Pathogenic
949837 rs1802428440 GRCh37: 7:143018499-143018499
GRCh38: 7:143321406-143321406
5 CLCN1 NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) SNV Pathogenic
872915 rs1802715644 GRCh37: 7:143028355-143028355
GRCh38: 7:143331262-143331262
6 CLCN1 NC_000007.13:g.(?_143013355)_143018256del DEL Pathogenic
1074550 GRCh37:
GRCh38:
7 CLCN1 NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) INDEL Pathogenic
804707 rs1586484463 GRCh37: 7:143017866-143017866
GRCh38: 7:143320773-143320773
8 CLCN1 NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) SNV Pathogenic
585692 rs1347382107 GRCh37: 7:143018838-143018838
GRCh38: 7:143321745-143321745
9 CLCN1 NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) SNV Pathogenic
1324083 GRCh37: 7:143013352-143013352
GRCh38: 7:143316259-143316259
10 CLCN1 NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) SNV Pathogenic
1381093 GRCh37: 7:143018467-143018467
GRCh38: 7:143321374-143321374
11 CLCN1 NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) DEL Pathogenic
1393878 GRCh37: 7:143039230-143039231
GRCh38: 7:143342137-143342138
12 CLCN1 NM_000083.3(CLCN1):c.2595+1G>A SNV Pathogenic
1384014 GRCh37: 7:143047748-143047748
GRCh38: 7:143350655-143350655
13 CLCN1 NM_000083.3(CLCN1):c.989dup (p.Ala331fs) DUP Pathogenic
1403542 GRCh37: 7:143028333-143028334
GRCh38: 7:143331240-143331241
14 CLCN1 NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) SNV Pathogenic
1363119 GRCh37: 7:143021507-143021507
GRCh38: 7:143324414-143324414
15 CLCN1 NC_000007.13:g.(?_143013209)_(143049107_?)del DEL Pathogenic
1429319 GRCh37: 7:143013209-143049107
GRCh38:
16 CLCN1 NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) DUP Pathogenic
1454866 GRCh37: 7:143029832-143029833
GRCh38: 7:143332739-143332740
17 CLCN1 NC_000007.13:g.(?_143042594)_(143044062_?)del DEL Pathogenic
1459940 GRCh37: 7:143042594-143044062
GRCh38:
18 CLCN1 NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) SNV Pathogenic
1434202 GRCh37: 7:143039578-143039578
GRCh38: 7:143342485-143342485
19 CLCN1 NM_000083.3(CLCN1):c.1281del (p.Leu427fs) DEL Pathogenic
1449054 GRCh37: 7:143029846-143029846
GRCh38: 7:143332753-143332753
20 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.2045del (p.Ser682fs) DEL Pathogenic
1453541 GRCh37: 7:143042728-143042728
GRCh38: 7:143345635-143345635
21 CLCN1 NM_000083.3(CLCN1):c.1918del (p.Val640fs) DEL Pathogenic
462826 rs1554438574 GRCh37: 7:143039585-143039585
GRCh38: 7:143342492-143342492
22 LOC123956257, CLCN1 NM_000083.3(CLCN1):c.1966del (p.Glu656fs) DEL Pathogenic
817974 rs1586514992 GRCh37: 7:143042648-143042648
GRCh38: 7:143345555-143345555
23 CLCN1 NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) SNV Pathogenic
840773 rs1803112361 GRCh37: 7:143039593-143039593
GRCh38: 7:143342500-143342500
24 CLCN1 NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) SNV Pathogenic
857226 rs1802763171 GRCh37: 7:143029864-143029864
GRCh38: 7:143332771-143332771
25 CLCN1 NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) MICROSAT Pathogenic
963702 rs1803238026 GRCh37: 7:143043273-143043274
GRCh38: 7:143346180-143346181
26 CLCN1 NM_000083.3(CLCN1):c.360del (p.Leu121fs) DEL Pathogenic
1070234 GRCh37: 7:143017813-143017813
GRCh38: 7:143320720-143320720
27 CLCN1 NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) SNV Pathogenic
447045 rs201714423 GRCh37: 7:143028708-143028708
GRCh38: 7:143331615-143331615
28 CLCN1 NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) DUP Pathogenic
280103 rs755176513 GRCh37: 7:143048918-143048919
GRCh38: 7:143351825-143351826
29 CLCN1 NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) SNV Pathogenic
Likely Pathogenic
582345 rs749205522 GRCh37: 7:143047703-143047703
GRCh38: 7:143350610-143350610
30 CLCN1 NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) SNV Pathogenic
489334 rs1554436799 GRCh37: 7:143029524-143029524
GRCh38: 7:143332431-143332431
31 CLCN1 NM_000083.3(CLCN1):c.1357del (p.Arg453fs) DEL Pathogenic
648711 rs1586499614 GRCh37: 7:143029918-143029918
GRCh38: 7:143332825-143332825
32 CLCN1 NM_000083.3(CLCN1):c.2596-1G>A SNV Pathogenic
449534 rs771721648 GRCh37: 7:143048686-143048686
GRCh38: 7:143351593-143351593
33 CLCN1 NM_000083.3(CLCN1):c.751del (p.Ser251fs) DEL Pathogenic
657105 rs1586487826 GRCh37: 7:143020456-143020456
GRCh38: 7:143323363-143323363
34 CLCN1 NM_000083.3(CLCN1):c.1872del (p.Glu624fs) DEL Pathogenic
861405 rs1424799320 GRCh37: 7:143039540-143039540
GRCh38: 7:143342447-143342447
35 CLCN1 NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) SNV Pathogenic
447072 rs765181341 GRCh37: 7:143021558-143021558
GRCh38: 7:143324465-143324465
36 CLCN1 NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) DUP Pathogenic
664719 rs1586499614 GRCh37: 7:143029917-143029918
GRCh38: 7:143332824-143332825
37 CLCN1 NM_000083.3(CLCN1):c.2364+2T>A SNV Pathogenic
280102 rs886041384 GRCh37: 7:143043753-143043753
GRCh38: 7:143346660-143346660
38 CLCN1 NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) SNV Pathogenic
447054 rs777685454 GRCh37: 7:143039045-143039045
GRCh38: 7:143341952-143341952
39 CLCN1 NM_000083.3(CLCN1):c.469del (p.Leu157fs) DEL Pathogenic
462831 rs1554434794 GRCh37: 7:143018492-143018492
GRCh38: 7:143321399-143321399
40 CLCN1 NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) DEL Pathogenic
1073619 GRCh37: 7:143039576-143039577
GRCh38: 7:143342483-143342484
41 CLCN1 NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) DEL Pathogenic
1075850 GRCh37: 7:143016865-143016880
GRCh38: 7:143319772-143319787
42 CLCN1 CLCN1, TRP433ARG VAR Pathogenic
17549 GRCh37:
GRCh38:
43 CLCN1 NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) SNV Pathogenic
1697271 rs80356695 GRCh37: 7:143036382-143036382
GRCh38: 7:143339289-143339289
44 CLCN1 NM_000083.3(CLCN1):c.938C>T (p.Ala313Val) SNV Pathogenic
1697274 GRCh37: 7:143027949-143027949
GRCh38: 7:143330856-143330856
45 CLCN1 NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) SNV Pathogenic
802379 rs770900468 GRCh37: 7:143036610-143036610
GRCh38: 7:143339517-143339517
46 CLCN1 NM_000083.3(CLCN1):c.774+1G>A SNV Pathogenic
265646 rs776073429 GRCh37: 7:143020480-143020480
GRCh38: 7:143323387-143323387
47 CLCN1 NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) SNV Pathogenic
447047 rs756981034 GRCh37: 7:143029826-143029826
GRCh38: 7:143332733-143332733
48 CLCN1 NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) DEL Pathogenic
570543 rs1563084597 GRCh37: 7:143039083-143039084
GRCh38: 7:143341990-143341991
49 CLCN1 NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) SNV Pathogenic
447058 rs201894078 GRCh37: 7:143039544-143039544
GRCh38: 7:143342451-143342451
50 CLCN1 NM_000083.3(CLCN1):c.2218del (p.Ser740fs) DEL Pathogenic
1388213 GRCh37: 7:143043278-143043278
GRCh38: 7:143346185-143346185

UniProtKB/Swiss-Prot genetic disease variations for Myotonia Congenita, Autosomal Dominant:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 CLCN1 p.Phe161Val VAR_001586
2 CLCN1 p.Gly200Arg VAR_001589 rs1563074523
3 CLCN1 p.Gly230Glu VAR_001590 rs80356700
4 CLCN1 p.Val286Ala VAR_001594 rs80356689
5 CLCN1 p.Ile290Met VAR_001595 rs80356690
6 CLCN1 p.Phe307Ser VAR_001598 rs80356701
7 CLCN1 p.Ala313Thr VAR_001599 rs80356692
8 CLCN1 p.Arg317Gln VAR_001600 rs80356702
9 CLCN1 p.Arg338Gln VAR_001603 rs80356703
10 CLCN1 p.Pro480Leu VAR_001607 rs80356694
11 CLCN1 p.Gln552Arg VAR_001611 rs80356696
12 CLCN1 p.Ile556Asn VAR_001612 rs80356697
13 CLCN1 p.Met128Val VAR_075591 rs80356699
14 CLCN1 p.Glu193Lys VAR_075597 rs80356686
15 CLCN1 p.Leu198Pro VAR_075599 rs1347382107
16 CLCN1 p.Phe484Leu VAR_075605 rs1312002847
17 CLCN1 p.Pro480His VAR_077244

Expression for Myotonia Congenita, Autosomal Dominant

Search GEO for disease gene expression data for Myotonia Congenita, Autosomal Dominant.

Pathways for Myotonia Congenita, Autosomal Dominant

GO Terms for Myotonia Congenita, Autosomal Dominant

Sources for Myotonia Congenita, Autosomal Dominant

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....