CMS24
MCID: MYS081
MIFTS: 21

Myasthenic Syndrome, Congenital, 24, Presynaptic (CMS24)

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 24, Presynaptic

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 24, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 24, Presynaptic 56 73 29 6
Cms24 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
favorable response to treatment with 3,4-dap or pyridostigmine


HPO:

31
myasthenic syndrome, congenital, 24, presynaptic:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 24, Presynaptic

UniProtKB/Swiss-Prot : 73 Myasthenic syndrome, congenital, 24, 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. CMS24 inheritance is autosomal recessive.

MalaCards based summary : Myasthenic Syndrome, Congenital, 24, Presynaptic, is also known as cms24. An important gene associated with Myasthenic Syndrome, Congenital, 24, Presynaptic is MYO9A (Myosin IXA). Related phenotypes are delayed speech and language development and muscle weakness

More information from OMIM: 618198 PS601462

Related Diseases for Myasthenic Syndrome, Congenital, 24, Presynaptic

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 24, Presynaptic

Human phenotypes related to Myasthenic Syndrome, Congenital, 24, Presynaptic:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 muscle weakness 31 HP:0001324
3 dysphagia 31 HP:0002015
4 feeding difficulties 31 HP:0011968
5 nystagmus 31 HP:0000639
6 ptosis 31 HP:0000508
7 respiratory insufficiency 31 HP:0002093
8 ophthalmoplegia 31 HP:0000602
9 apnea 31 HP:0002104
10 decreased fetal movement 31 HP:0001558
11 abnormality of the foot 31 HP:0001760
12 knee flexion contracture 31 HP:0006380
13 oculomotor apraxia 31 HP:0000657
14 camptodactyly 31 HP:0012385
15 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
abnormal jitter seen on emg
myasthenic syndrome
decremental response to repetitive nerve stimulation
hypotonia, distal and proximal

Respiratory:
respiratory insufficiency
episodic apnea
respiratory crises during infection

Neurologic Central Nervous System:
delayed motor development
speech delay
learning disabilities
delayed walking
delayed head control
more
Skeletal Feet:
foot deformities

Prenatal Manifestations Movement:
decreased fetal movements

Head And Neck Eyes:
nystagmus
ptosis
ophthalmoplegia
oculomotor apraxia

Skeletal Hands:
camptodactyly
finger contractures

Skeletal Limbs:
knee contractures

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

Skeletal:
arthrogryposis, distal (in some patients)

Clinical features from OMIM:

618198

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 24, Presynaptic

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 24, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 24, Presynaptic

Genetic tests related to Myasthenic Syndrome, Congenital, 24, Presynaptic:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 24, Presynaptic 29 MYO9A

Anatomical Context for Myasthenic Syndrome, Congenital, 24, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 24, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 24, Presynaptic:

# Title Authors PMID Year
1
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. 6 56
27259756 2016
2
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 56 6
26752647 2016
3
Congenital Myasthenic Syndromes 6
20301347 2003

Variations for Myasthenic Syndrome, Congenital, 24, Presynaptic

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 24, Presynaptic:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO9A NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His)SNV Pathogenic 590980 15:72190294-72190294 15:71897953-71897953
2 MYO9A NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)SNV Pathogenic 590982 15:72186069-72186069 15:71893728-71893728
3 MYO9A NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His)SNV Conflicting interpretations of pathogenicity 791639 15:72122642-72122642 15:71830301-71830301
4 MYO9A NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu)SNV Conflicting interpretations of pathogenicity 590978 rs1567176190 15:72122645-72122645 15:71830304-71830304
5 MYO9A NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)SNV Uncertain significance 590979 rs374155761 15:72338297-72338297 15:72045956-72045956

Expression for Myasthenic Syndrome, Congenital, 24, Presynaptic

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 24, Presynaptic.

Pathways for Myasthenic Syndrome, Congenital, 24, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 24, Presynaptic

Sources for Myasthenic Syndrome, Congenital, 24, Presynaptic

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MESH via Orphanet
45 MGI
48 NCI
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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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