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:8387
Name:Myasthenic syndrome, congenital, postsynaptic slow-channel
Definition:
Alternative IDs:OMIM:601462
ParentIDs:MESH:D020294
TreeNumbers:C10.668.758.800/C536091 |C16.320.590/C536091
Synonyms:CMS1A |CMS2A, FORMERLY |CMS IIa, FORMERLY |MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |Myasthenic syndrome, congenital, type IIa |MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C536091
MeSH: C536091
OMIM: 601462;
MSeqDR LSDB:  
Genes: CHRNA1; CHRNB1; CHRND; CHRNE;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003674Onset
4 HP:0003443Decreased size of nerve terminals
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
7 HP:0003473Fatigable weakness
8 HP:0011968Feeding difficulties
9 HP:0003324Generalized muscle weakness
10 HP:0000218High palateHP:0040283
11 HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
12 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
13 HP:0000602Ophthalmoplegia
14 HP:0003436Prolonged miniature endplate currents
15 HP:0000508Ptosis
NAMDC:  Ptosis
16 HP:0003554Type 2 muscle fiber atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001039523.3(CHRNA1):c.1389C>G (p.Cys463Trp)1134CHRNA1Pathogenicrs137852808RCV000020055; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:6014622175612912175612912GC2:g.175612912G>CClinGen:CA258189,UniProtKB:P02708#VAR_038601,OMIM:100690.0012C0751885 601462 Myasthenic syndrome, slow-channel congenital;
NM_001039523.3(CHRNA1):c.941G>T (p.Ser314Ile)1134CHRNA1Pathogenicrs137852802RCV000020048; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:6014622175614810175614810CA2:g.175614810C>AClinGen:CA258185,UniProtKB:P02708#VAR_000286,OMIM:100690.0005C0751885 601462 Myasthenic syndrome, slow-channel congenital;
NM_001039523.3(CHRNA1):c.896C>T (p.Thr299Ile)1134CHRNA1Pathogenicrs137852800RCV000020046; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:6014622175614855175614855GA2:g.175614855G>AClinGen:CA258181,UniProtKB:P02708#VAR_000285,OMIM:100690.0003C0751885 601462 Myasthenic syndrome, slow-channel congenital;
NM_001039523.3(CHRNA1):c.880G>T (p.Val294Phe)1134CHRNA1Likely pathogenicrs137852803RCV000020049|RCV000623150; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462|MeSH:D030342,MedGen:C09501232175614871175614871CA2:g.175614871C>AClinGen:CA258187,UniProtKB:P02708#VAR_021207,OMIM:100690.0006C0950123 Inborn genetic diseases;
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)1134CHRNA1Uncertain significance-1RCV001196948; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:6014622175618243175618243GT2:g.175618243G>T-
NM_001039523.3(CHRNA1):c.786C>G (p.Asn262Lys)1134CHRNA1Pathogenicrs137852798RCV000020044; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:6014622175618298175618298GC2:g.175618298G>CClinGen:CA258177,UniProtKB:P02708#VAR_000284,OMIM:100690.0001C0751885 601462 Myasthenic syndrome, slow-channel congenital;
NM_001039523.3(CHRNA1):c.601G>A (p.Val201Met)1134CHRNA1Uncertain significancers137852799RCV000020045|RCV001237075; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082175618961175618961CT2:g.175618961C>TClinGen:CA258179,UniProtKB:P02708#VAR_000283,OMIM:100690.0002C0751885 601462 Myasthenic syndrome, slow-channel congenital;
NM_001039523.3(CHRNA1):c.592G>A (p.Gly198Ser)1134CHRNA1Pathogenicrs137852801RCV000020047|RCV000556947; NMONDO:MONDO:0011088,MedGen:C2931107,OMIM:601462|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290, Orphanet:331082175618970175618970CT2:g.175618970C>TClinGen:CA258183,UniProtKB:P02708#VAR_000282,OMIM:100690.0004C1854678 253290 Lethal multiple pterygium syndrome;
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