CMS25
MCID: MYS082
MIFTS: 19

Myasthenic Syndrome, Congenital, 25, Presynaptic (CMS25)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 25, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 25, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 25, Presynaptic 58 76 6
Cms25 58 76
Myasthenic Syndrome, Congenital, 25 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
mild favorable response to treatment with pyridostigmine


Classifications:



External Ids:

OMIM 58 618323
MeSH 45 D020294
MedGen 43 CN258208

Summaries for Myasthenic Syndrome, Congenital, 25, Presynaptic

UniProtKB/Swiss-Prot : 76 Myasthenic syndrome, congenital, 25, 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. CMS25 is an autosomal recessive form characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine.

MalaCards based summary : Myasthenic Syndrome, Congenital, 25, Presynaptic, is also known as cms25. An important gene associated with Myasthenic Syndrome, Congenital, 25, Presynaptic is VAMP1 (Vesicle Associated Membrane Protein 1). Affiliated tissues include eye.

OMIM : 58 Congenital myasthenic syndrome-25 is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by Shen et al., 2017). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (618323)

Related Diseases for Myasthenic Syndrome, Congenital, 25, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 25, Presynaptic

Symptoms via clinical synopsis from OMIM:

58
Voice:
dysarthria

Skeletal Spine:
scoliosis
kyphosis
rigid spine

Head And Neck Eyes:
strabismus
limited extraocular movements

Neurologic Peripheral Nervous System:
areflexia

Neurologic Central Nervous System:
delayed motor development

Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Muscle Soft Tissue:
myopathy
hypotonia, severe
myopathic changes seen on emg
muscle atrophy, generalized
decremental response to repetitive nerve stimulation
more
Skeletal:
joint hypermobility
joint contractures

Head And Neck Face:
myopathic facies
elongated face

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

618323

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 25, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 25, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 25, Presynaptic

Anatomical Context for Myasthenic Syndrome, Congenital, 25, Presynaptic

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 25, Presynaptic:

42
Eye

Publications for Myasthenic Syndrome, Congenital, 25, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 25, Presynaptic:

# Title Authors Year
1
Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. ( 28168212 )
2017
2
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. ( 28253535 )
2017
3
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. ( 28600779 )
2017

Variations for Myasthenic Syndrome, Congenital, 25, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 25, Presynaptic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VAMP1 NM_014231.4(VAMP1): c.146G> C (p.Arg49Pro) single nucleotide variant Pathogenic rs754046104 GRCh38 Chromosome 12, 6465984: 6465984
2 VAMP1 NM_014231.4(VAMP1): c.146G> C (p.Arg49Pro) single nucleotide variant Pathogenic rs754046104 GRCh37 Chromosome 12, 6575150: 6575150
3 VAMP1 NM_014231.4(VAMP1): c.340del (p.Ile114Serfs) deletion Pathogenic GRCh37 Chromosome 12, 6574056: 6574056
4 VAMP1 NM_014231.4(VAMP1): c.340del (p.Ile114Serfs) deletion Pathogenic GRCh38 Chromosome 12, 6464890: 6464890
5 VAMP1 NM_014231.4(VAMP1): c.51_64del (p.Gly18Trpfs) deletion Pathogenic GRCh38 Chromosome 12, 6466290: 6466303
6 VAMP1 NM_014231.4(VAMP1): c.51_64del (p.Gly18Trpfs) deletion Pathogenic GRCh37 Chromosome 12, 6575456: 6575469
7 VAMP1 NM_014231.4(VAMP1): c.129+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 12, 6575390: 6575390
8 VAMP1 NM_014231.4(VAMP1): c.129+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 12, 6466224: 6466224
9 VAMP1 NM_014231.4(VAMP1): c.128_129del (p.Glu43Glyfs) deletion Pathogenic GRCh38 Chromosome 12, 6466225: 6466226
10 VAMP1 NM_014231.4(VAMP1): c.128_129del (p.Glu43Glyfs) deletion Pathogenic GRCh37 Chromosome 12, 6575391: 6575392

Expression for Myasthenic Syndrome, Congenital, 25, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 25, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 25, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 25, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 25, Presynaptic

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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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