MCID: MYS064
MIFTS: 22

Myasthenic Syndrome, Congenital, 16

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 16

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 16:

Name: Myasthenic Syndrome, Congenital, 16 57 75
Cms16 57 12 75
Myasthenic Syndrome, Congenital, Acetazolamide-Responsive 57 75
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 29 6
Congenital Myasthenic Syndrome Acetazolamide-Responsive 12
Congenital Myasthenic Syndrome Due to Mutation in Scn4a 75
Congenital Myasthenic Syndrome Scn4a-Related 75
Congenital Myasthenic Syndrome 16 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated patients have been reported (last curated october 2015)


HPO:

32
myasthenic syndrome, congenital, 16:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 16

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 16: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.

MalaCards based summary : Myasthenic Syndrome, Congenital, 16, also known as cms16, is related to congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, 16 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Related phenotypes are high palate and ptosis

Disease Ontology : 12 A congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23

OMIM : 57 Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (614198)

Related Diseases for Myasthenic Syndrome, Congenital, 16

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 16

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia

Neurologic Central Nervous System:
delayed motor development

Respiratory:
apneic episodes (1 patient)

Laboratory Abnormalities:
normal potassium levels

Muscle Soft Tissue:
easy fatigability
impaired gait
muscle weakness, episodic
weakness worsened by activity
decremental compound muscle action potential on repetitive stimulation

Head And Neck Mouth:
high-arched palate (1 patient)

Skeletal Spine:
lordosis (1 patient)


Clinical features from OMIM:

614198

Human phenotypes related to Myasthenic Syndrome, Congenital, 16:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 ptosis 32 HP:0000508
3 external ophthalmoplegia 32 HP:0000544
4 motor delay 32 HP:0001270
5 gait disturbance 32 HP:0001288
6 apnea 32 occasional (7.5%) HP:0002104
7 hyperlordosis 32 occasional (7.5%) HP:0003307
8 easy fatigability 32 HP:0003388
9 fatigable weakness 32 HP:0003473

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 16

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 16

Genetic Tests for Myasthenic Syndrome, Congenital, 16

Genetic tests related to Myasthenic Syndrome, Congenital, 16:

# Genetic test Affiliating Genes
1 Congenital Myasthenic Syndrome, Acetazolamide-Responsive 29 SCN4A

Anatomical Context for Myasthenic Syndrome, Congenital, 16

Publications for Myasthenic Syndrome, Congenital, 16

Variations for Myasthenic Syndrome, Congenital, 16

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 16:

75
# Symbol AA change Variation ID SNP ID
1 SCN4A p.Val1442Glu VAR_017795 rs121908553
2 SCN4A p.Arg1454Trp VAR_075436 rs879253789
3 SCN4A p.Arg1457His VAR_075437 rs863225046

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 16:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TACO1 NM_016360.3(TACO1): c.472_473insC (p.His158Profs) insertion Pathogenic rs587776513 GRCh37 Chromosome 17, 61683757: 61683757
2 TACO1 NM_016360.3(TACO1): c.472_473insC (p.His158Profs) insertion Pathogenic rs587776513 GRCh38 Chromosome 17, 63606397: 63606397
3 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh37 Chromosome 17, 62019317: 62019317
4 SCN4A NM_000334.4(SCN4A): c.4325T> A (p.Val1442Glu) single nucleotide variant Pathogenic rs121908553 GRCh38 Chromosome 17, 63941957: 63941957
5 SCN4A NM_000334.4(SCN4A): c.4370G> A (p.Arg1457His) single nucleotide variant Pathogenic rs863225046 GRCh38 Chromosome 17, 63941912: 63941912
6 SCN4A NM_000334.4(SCN4A): c.4370G> A (p.Arg1457His) single nucleotide variant Pathogenic rs863225046 GRCh37 Chromosome 17, 62019272: 62019272
7 SCN4A NM_000334.4(SCN4A): c.1100+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200770684 GRCh38 Chromosome 17, 63966474: 63966474
8 SCN4A NM_000334.4(SCN4A): c.1100+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200770684 GRCh37 Chromosome 17, 62043834: 62043834
9 SCN4A NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser) single nucleotide variant Benign/Likely benign rs201148948 GRCh38 Chromosome 17, 63951654: 63951654
10 SCN4A NM_000334.4(SCN4A): c.2623C> T (p.Pro875Ser) single nucleotide variant Benign/Likely benign rs201148948 GRCh37 Chromosome 17, 62029014: 62029014
11 SCN4A NM_000334.4(SCN4A): c.355G> A (p.Val119Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41280110 GRCh38 Chromosome 17, 63972389: 63972389
12 SCN4A NM_000334.4(SCN4A): c.355G> A (p.Val119Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41280110 GRCh37 Chromosome 17, 62049749: 62049749
13 SCN4A NM_000334.4(SCN4A): c.1796A> G (p.His599Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs187401185 GRCh38 Chromosome 17, 63961242: 63961242
14 SCN4A NM_000334.4(SCN4A): c.1796A> G (p.His599Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs187401185 GRCh37 Chromosome 17, 62038602: 62038602

Expression for Myasthenic Syndrome, Congenital, 16

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 16.

Pathways for Myasthenic Syndrome, Congenital, 16

GO Terms for Myasthenic Syndrome, Congenital, 16

Sources for Myasthenic Syndrome, Congenital, 16

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