CMS23
MCID: MYS080
MIFTS: 16

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 58 76 6
Cms23 58 76

Characteristics:

OMIM:

58
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)


Classifications:



External Ids:

OMIM 58 618197
MeSH 45 D020294
SNOMED-CT via HPO 70 248268002 26544005

Summaries for Myasthenic Syndrome, Congenital, 23, Presynaptic

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include eye, and related phenotypes are muscle weakness and easy fatigability

Description from OMIM: 618197

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:

33
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 easy fatigability 33 HP:0003388
3 frequent falls 33 HP:0002359
4 calf muscle hypertrophy 33 HP:0008981
5 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Myasthenic Syndrome, Congenital, 23, Presynaptic

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 23, Presynaptic:

42
Eye

Publications for Myasthenic Syndrome, Congenital, 23, Presynaptic

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

# Title Authors Year
1
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. ( 26870663 )
2014

Variations for Myasthenic Syndrome, Congenital, 23, Presynaptic

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

76
# Symbol AA change Variation ID SNP ID
1 SLC25A1 p.Arg247Gln VAR_081667

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

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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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