CMS23
MCID: MYS080
MIFTS: 18

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 57 74 29 6
Cms23 57 74

Characteristics:

OMIM:

57
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:

32
myasthenic syndrome, congenital, 23, presynaptic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D020294
MedGen 42 C4748678

Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

UniProtKB/Swiss-Prot : 74 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 abnormality of the foot

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 abnormality of the foot 32 HP:0001760
3 easy fatigability 32 HP:0003388
4 hyporeflexia 32 HP:0001265
5 neck muscle weakness 32 HP:0000467
6 frequent falls 32 HP:0002359
7 calf muscle hypertrophy 32 HP:0008981
8 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Neurologic Peripheral Nervous System:
hyporeflexia

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

Muscle Soft Tissue:
muscle weakness
easy fatigability
calf hypertrophy
abnormal jitter seen on emg
myasthenic syndrome
more
Head And Neck Neck:
neck muscle weakness

Skeletal Feet:
foot deformities

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. 8 71
26870663 2014
2
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. 8
23393310 2013
3
Congenital Myasthenic Syndromes 71
20301347 2003

Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A1 NM_005984.5(SLC25A1): c.740G> A (p.Arg247Gln) single nucleotide variant Pathogenic 22:19164098-19164098 22:19176585-19176585

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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