CMS23
MCID: MYS080
MIFTS: 19

Myasthenic Syndrome, Congenital, 23, Presynaptic (CMS23)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 23, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 23, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 23, Presynaptic 56 73 29 6
Cms23 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
nonprogressive disease course
favorable response to treatment with 3,4-dap or pyridostigmine
two sibs born of consanguineous parents have been reported (last curated november 2018)


HPO:

31
myasthenic syndrome, congenital, 23, presynaptic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618197
OMIM Phenotypic Series 56 PS601462
MeSH 43 D020294
MedGen 41 C4748678

Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 23, 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 include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive.

MalaCards based summary : Myasthenic Syndrome, Congenital, 23, Presynaptic, is also known as cms23. An important gene associated with Myasthenic Syndrome, Congenital, 23, Presynaptic is SLC25A1 (Solute Carrier Family 25 Member 1). Related phenotypes are ptosis and easy fatigability

More information from OMIM: 618197 PS601462

Related Diseases for Myasthenic Syndrome, Congenital, 23, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 23, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 easy fatigability 31 HP:0003388
3 abnormality of the foot 31 HP:0001760
4 hyporeflexia 31 HP:0001265
5 calf muscle hypertrophy 31 HP:0008981
6 frequent falls 31 HP:0002359
7 neck muscle weakness 31 HP:0000467
8 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
easy fatigability
calf hypertrophy
abnormal jitter seen on emg
myasthenic syndrome
more
Neurologic Peripheral Nervous System:
hyporeflexia
bulbar muscle weakness
proximal fatigable limb muscle weakness

Head And Neck Neck:
neck muscle weakness

Skeletal Feet:
foot deformities

Laboratory Abnormalities:
normal serum lactate at rest
increased serum lactate after exercise

Head And Neck Eyes:
ptosis
ophthalmoparesis
diplopia

Neurologic Central Nervous System:
frequent falls
delayed motor development
learning disabilities
delayed walking
impaired intellectual development, mild

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
elongated face
symmetrical facial weakness

Clinical features from OMIM:

618197

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 23, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 23, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 23, Presynaptic 29 SLC25A1

Anatomical Context for Myasthenic Syndrome, Congenital, 23, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 23, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

# Title Authors PMID Year
1
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 6 56
26870663 2014
2
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. 56
31527857 2020
3
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 56
23393310 2013
4
Congenital Myasthenic Syndromes 6
20301347 2003
5
Neutralizing antibodies modulate replication of simian immunodeficiency virus SIVmac in primary macaque macrophages. 6
1527857 1992

Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A1 NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)SNV Pathogenic 590940 rs781908532 22:19164098-19164098 22:19176585-19176585

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:

73
# Symbol AA change Variation ID SNP ID
1 SLC25A1 p.Arg247Gln VAR_081667 rs781908532

Expression for Myasthenic Syndrome, Congenital, 23, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 23, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 23, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 23, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 23, 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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