CMS24
MCID: MYS081
MIFTS: 21

Myasthenic Syndrome, Congenital, 24, Presynaptic (CMS24)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 57 73 29 6
Cms24 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 ptosis and nystagmus

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
nystagmus
ophthalmoplegia
oculomotor apraxia

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

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

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 (Updated 05-Mar-2021)

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:

(showing 2, show less)
# Title Authors PMID Year
1
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. 6 57
27259756 2016
2
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6 57
26752647 2016

Variations for Myasthenic Syndrome, Congenital, 24, Presynaptic

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

6 (showing 5, show less)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO9A NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) SNV Pathogenic 590978 rs1567176190 15:72122645-72122645 15:71830304-71830304
2 MYO9A NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) SNV Pathogenic 590979 rs374155761 15:72338297-72338297 15:72045956-72045956
3 MYO9A NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) SNV Pathogenic 590980 15:72190294-72190294 15:71897953-71897953
4 MYO9A NM_006901.4(MYO9A):c.6848G>A (p.Arg2283His) SNV Pathogenic 791639 rs142345927 15:72122642-72122642 15:71830301-71830301
5 MYO9A NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly) SNV Pathogenic 590982 15:72186069-72186069 15:71893728-71893728

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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