CMS21
MCID: MYS069
MIFTS: 34

Myasthenic Syndrome, Congenital, 21, Presynaptic (CMS21)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal 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 56 73 29 6
Cms21 56 12 73
Congenital Myasthenic Syndrome 21 12 15
Congenital Myasthenic Syndrome 21, Presynaptic 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
myasthenic syndrome, congenital, 21, presynaptic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 21, Presynaptic

UniProtKB/Swiss-Prot : 73 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 tendinosis and sclerosteosis 2. 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 Synthesis of substrates in N-glycan biosythesis and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). Affiliated tissues include heart, and related phenotypes are fatigue and feeding difficulties

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.

More information from OMIM: 617239 PS601462

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
Myasthenic Syndrome, Congenital, 23, Presynaptic Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 tendinosis 10.3 SLC18A3 CHAT
2 sclerosteosis 2 10.2 RAPSN DOK7
3 myopathy, tubular aggregate, 1 10.1 GFPT1 DOK7 COLQ
4 neonatal myasthenia gravis 10.1 COLQ AGRN
5 congenital myasthenic syndromes with glycosylation defect 10.1 GFPT1 DPAGT1 ALG14
6 myasthenic syndrome, congenital, 5 10.1 RAPSN DOK7 COLQ
7 presynaptic congenital myasthenic syndromes 10.0 SLC18A3 CHAT AGRN
8 fetal akinesia deformation sequence 1 10.0 SLC18A3 RAPSN DOK7
9 glioblastoma neural subtype 10.0 RPS3A PSMD4
10 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.0 RAPSN GFPT1
11 myasthenic syndrome, congenital, 13 9.9 RAPSN DPAGT1 DOK7 COLQ
12 postsynaptic congenital myasthenic syndromes 9.9 RAPSN DOK7 AGRN
13 cenani-lenz syndactyly syndrome 9.9 RAPSN DOK7 AGRN
14 protoporphyria, erythropoietic, 1 9.9 RAPSN DOK7 AGRN
15 myasthenia gravis 9.8 RAPSN DOK7 AGRN
16 walker-warburg syndrome 9.8 DPAGT1 ALG14 AGRN
17 localized pulmonary fibrosis 9.7 PSMD5 PSMD4
18 muscular dystrophy, congenital, lmna-related 9.7 RAPSN DOK7 COLQ AGRN
19 ciliary dyskinesia, primary, 10 9.7 PSMD5 PSMD4
20 peripheral nervous system disease 9.7 RAPSN DOK7 COLQ AGRN
21 retinitis pigmentosa 61 9.6 PSMD5 PSMD4
22 ciliary dyskinesia, primary, 9 9.6 PSMD5 PSMD4
23 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 9.5 PSMD5 PSMD4
24 ophthalmia nodosa 9.4 RPS3A PSMD5 PSMD4
25 congenital disorder of glycosylation, type il 9.4 RPS3A PSMD5 PSMD4
26 hypotrichosis 1 9.4 RPS3A PSMD5 PSMD4
27 kaufman oculocerebrofacial syndrome 9.4 RPS3A PSMD5 PSMD4
28 wilson-turner x-linked mental retardation syndrome 9.4 RPS3A PSMD5 PSMD4
29 ptosis 9.4 SLC18A3 RAPSN DOK7 COLQ CHAT AGRN
30 kagami-ogata syndrome 9.3 RPS3A PSMD5 PSMD4
31 retinitis pigmentosa 49 9.3 RPS3A PSMD5
32 retinitis pigmentosa 23 9.2 RPS3A PSMD5 PSMD4 CHAT
33 suppression of tumorigenicity 12 9.2 RPS3A PSMD5 PSMD4
34 noonan syndrome 1 9.0 RPS3A PSMD5 PSMD4 OFCC1
35 neuromuscular junction disease 8.9 RAPSN GFPT1 DPAGT1 DOK7 COLQ CHAT
36 neuromuscular disease 8.9 RAPSN GFPT1 DPAGT1 DOK7 COLQ CHAT
37 amyotrophic lateral sclerosis 1 8.7 SLC18A3 RPS3A PSMD5 PSMD4 CHAT
38 congenital myasthenic syndrome 8.3 SLC18A3 RPS3A RAPSN GFPT1 DPAGT1 DOK7

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

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 fatigue 31 HP:0012378
2 feeding difficulties 31 HP:0011968
3 nystagmus 31 HP:0000639
4 ptosis 31 HP:0000508
5 respiratory insufficiency 31 HP:0002093
6 ophthalmoplegia 31 HP:0000602
7 facial palsy 31 HP:0010628
8 apnea 31 HP:0002104
9 knee flexion contracture 31 HP:0006380
10 generalized hypotonia 31 HP:0001290
11 difficulty walking 31 HP:0002355
12 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
fatigue
exercise intolerance
hypotonia
muscle weakness, upper and lower limbs
decremental response to repetitive nerve stimulation
more
Head And Neck Eyes:
ptosis
ophthalmoplegia
nystagmus (patient b)

Head And Neck Face:
facial weakness

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

Abdomen Gastrointestinal:
feeding difficulties

Respiratory:
respiratory insufficiency
apneic episodes

Skeletal Limbs:
knee contractures (patient b)

Neurologic Central Nervous System:
learning disabilities (patient a)

Clinical features from OMIM:

617239

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 21, Presynaptic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 AGRN CHAT DOK7 GFPT1 RAPSN SLC18A3

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

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 21, Presynaptic:

40
Heart

Publications for Myasthenic Syndrome, Congenital, 21, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 21, Presynaptic:

# Title Authors PMID Year
1
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 6 56
27590285 2016
2
Dysautonomia due to reduced cholinergic neurotransmission causes cardiac remodeling and heart failure. 56
20123977 2010
3
Congenital Myasthenic Syndromes 6
20301347 2003

Variations for Myasthenic Syndrome, Congenital, 21, Presynaptic

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC18A3 NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala)SNV Pathogenic 372159 rs1057517665 10:50819343-50819343 10:49611297-49611297
2 SLC18A3 NM_003055.3(SLC18A3):c.1192G>C (p.Asp398His)SNV Pathogenic 372160 rs1057517666 10:50819978-50819978 10:49611932-49611932

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

73
# Symbol AA change Variation ID SNP ID
1 SLC18A3 p.Gly186Ala VAR_078030 rs105751766
2 SLC18A3 p.Asp398His VAR_078031 rs105751766

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 proteasome accessory complex GO:0022624 9.16 PSMD5 PSMD4
2 synapse GO:0045202 9.1 RPS3A RAPSN DOK7 COLQ CHAT AGRN
3 proteasome regulatory particle, base subcomplex GO:0008540 8.96 PSMD5 PSMD4

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

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.5 PSMD5 PSMD4 MUC13
2 neuromuscular junction development GO:0007528 9.37 DOK7 AGRN
3 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.26 DPAGT1 ALG14
4 proteasome assembly GO:0043248 9.16 PSMD5 PSMD4
5 UDP-N-acetylglucosamine metabolic process GO:0006047 8.96 GFPT1 DPAGT1
6 regulation of synaptic growth at neuromuscular junction GO:0008582 8.62 COLQ AGRN

Sources for Myasthenic Syndrome, Congenital, 21, Presynaptic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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