MCID: MYS069
MIFTS: 27

Myasthenic Syndrome, Congenital, 21, Presynaptic

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 21, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 21, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 21, Presynaptic 57 75 29 6
Cms21 57 12 75
Congenital Myasthenic Syndrome 21, Presynaptic 12
Congenital Myasthenic Syndrome 21 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
two unrelated patients have been reported (last curated december 2016)
favorable response to pyridostigmine


HPO:

32
myasthenic syndrome, congenital, 21, presynaptic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 21, Presynaptic

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 21, presynaptic: 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. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients.

MalaCards based summary : Myasthenic Syndrome, Congenital, 21, Presynaptic, also known as cms21, is related to presynaptic congenital myasthenic syndromes and tendinosis. An important gene associated with Myasthenic Syndrome, Congenital, 21, Presynaptic is SLC18A3 (Solute Carrier Family 18 Member A3), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Related phenotypes are ptosis and ophthalmoplegia

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11.

Description from OMIM: 617239

Related Diseases for Myasthenic Syndrome, Congenital, 21, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic

Diseases related to Myasthenic Syndrome, Congenital, 21, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 presynaptic congenital myasthenic syndromes 9.5 CHAT SLC18A3
2 tendinosis 9.4 CHAT SLC18A3
3 congenital myasthenic syndrome 9.3 CHAT SLC18A3
4 amyotrophic lateral sclerosis 1 9.2 CHAT SLC18A3
5 alzheimer disease 9.0 CHAT SLC18A3

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 21, Presynaptic:



Diseases related to Myasthenic Syndrome, Congenital, 21, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 21, Presynaptic

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
ophthalmoplegia
nystagmus (patient b)

Muscle Soft Tissue:
fatigue
exercise intolerance
hypotonia
muscle weakness, upper and lower limbs
decremental response to repetitive nerve stimulation
more
Head And Neck Face:
facial weakness

Cardiovascular Heart:
reduced left ventricular function, mild (patient a)

Respiratory:
respiratory insufficiency
apneic episodes

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Limbs:
knee contractures (patient b)

Neurologic Central Nervous System:
learning disabilities (patient a)


Clinical features from OMIM:

617239

Human phenotypes related to Myasthenic Syndrome, Congenital, 21, Presynaptic:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ophthalmoplegia 32 HP:0000602
3 nystagmus 32 HP:0000639
4 generalized hypotonia 32 HP:0001290
5 respiratory insufficiency 32 HP:0002093
6 apnea 32 HP:0002104
7 difficulty walking 32 HP:0002355
8 exercise intolerance 32 HP:0003546
9 knee flexion contracture 32 HP:0006380
10 facial palsy 32 HP:0010628
11 feeding difficulties 32 HP:0011968
12 fatigue 32 HP:0012378

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 21, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 21, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 21, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 21, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 21, Presynaptic 29 SLC18A3

Anatomical Context for Myasthenic Syndrome, Congenital, 21, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 21, Presynaptic

Variations for Myasthenic Syndrome, Congenital, 21, Presynaptic

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 21, Presynaptic:

75
# Symbol AA change Variation ID SNP ID
1 SLC18A3 p.Gly186Ala VAR_078030 rs1057517665Myasthenic
2 SLC18A3 p.Asp398His VAR_078031 rs1057517666Myasthenic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 21, Presynaptic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC18A3 NM_003055.2(SLC18A3): c.557G> C (p.Gly186Ala) single nucleotide variant Pathogenic rs1057517665 GRCh38 Chromosome 10, 49611297: 49611297
2 SLC18A3 NM_003055.2(SLC18A3): c.557G> C (p.Gly186Ala) single nucleotide variant Pathogenic rs1057517665 GRCh37 Chromosome 10, 50819343: 50819343
3 SLC18A3 NM_003055.2(SLC18A3): c.1192G> C (p.Asp398His) single nucleotide variant Pathogenic rs1057517666 GRCh38 Chromosome 10, 49611932: 49611932
4 SLC18A3 NM_003055.2(SLC18A3): c.1192G> C (p.Asp398His) single nucleotide variant Pathogenic rs1057517666 GRCh37 Chromosome 10, 50819978: 50819978

Expression for Myasthenic Syndrome, Congenital, 21, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 21, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 21, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 21, Presynaptic

Cellular components related to Myasthenic Syndrome, Congenital, 21, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 8.96 CHAT SLC18A3
2 presynapse GO:0098793 8.62 CHAT SLC18A3

Biological processes related to Myasthenic Syndrome, Congenital, 21, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter secretion GO:0007269 8.62 CHAT SLC18A3

Sources for Myasthenic Syndrome, Congenital, 21, Presynaptic

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