MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8385
Name:Myasthenic Syndrome, Congenital, Fast-Channel
Definition:
Alternative IDs:OMIM:608930|OMIM:616322|OMIM:616324
ParentIDs:MESH:D020294
TreeNumbers:C10.668.758.800/C563832 |C16.320.590/C563832
Synonyms:CMS1B |CMS3B |CMS4B |MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL |MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C563832
MeSH: C563832
OMIM: 608930;
MSeqDR LSDB:  
Genes: CHRNA1; CHRND; CHRNE;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0002804Arthrogryposis multiplex congenita
5 HP:0001283Bulbar palsy
6 HP:0003402Decreased miniature endplate potentials
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0002015Dysphagia
NAMDC:  Dysphagia
9 HP:0003388Easy fatigability
10 HP:0010628Facial palsy
11 HP:0003324Generalized muscle weakness
12 HP:0003391Gowers sign
13 HP:0000218High palate
14 HP:0000400Macrotia
15 HP:0000347Micrognathia
16 HP:0001270Motor delay
17 HP:0000467Neck muscle weakness
18 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
19 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
20 HP:0002033Poor suck
21 HP:0000508Ptosis
NAMDC:  Ptosis
22 HP:0002747Respiratory insufficiency due to muscle weakness
23 HP:0002650Scoliosis
24 HP:0003554Type 2 muscle fiber atrophy
25 HP:0003828Variable expressivity
26 HP:0001612Weak cry
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001039523.3(CHRNA1):c.1072C>T (p.Arg358Trp)1134CHRNA1Uncertain significancers374391312RCV000022418|RCV000803477; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:590|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082175614679175614679GA2:g.175614679G>AOMIM:100690.0016
NM_001039523.3(CHRNA1):c.988G>A (p.Val330Ile)1134CHRNA1Pathogenicrs137852804RCV000020050; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:5902175614763175614763CT2:g.175614763C>TClinGen:CA128076,UniProtKB:P02708#VAR_021209,OMIM:100690.0007C1837122 608930 Congenital myasthenic syndrome 1B, fast-channel;
NM_001039523.3(CHRNA1):c.901T>C (p.Phe301Leu)1134CHRNA1Pathogenicrs137852806RCV000020052; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:5902175614850175614850AG2:g.175614850A>GClinGen:CA128080,UniProtKB:P02708#VAR_021208,OMIM:100690.0009C1837122 608930 Congenital myasthenic syndrome 1B, fast-channel;
NM_001039523.3(CHRNA1):c.832T>G (p.Phe278Val)1134CHRNA1Pathogenicrs137852805RCV000020051; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:5902175618252175618252AC2:g.175618252A>CClinGen:CA128078,UniProtKB:P02708#VAR_021206,OMIM:100690.0008C1837122 608930 Congenital myasthenic syndrome 1B, fast-channel;
NM_001039523.3(CHRNA1):c.529G>C (p.Val177Leu)1134CHRNA1Pathogenicrs137852807RCV000020053; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:5902175619033175619033CG2:g.175619033C>GClinGen:CA128082,UniProtKB:P02708#VAR_038599,OMIM:100690.0010C1837122 608930 Congenital myasthenic syndrome 1B, fast-channel;
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)1145CHRNEUncertain significancers483353045RCV000122734|RCV000991799|RCV001210602; NMONDO:MONDO:0012156,MedGen:C4225405,OMIM:608930, Orphanet:590|MedGen:CN517202|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809, Orphanet:5901748053064805306GT17:g.4805306G>TClinGen:CA163109C1837122 608930 Congenital myasthenic syndrome 1B, fast-channel;
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