CMS24
MCID: MYS081
MIFTS: 20

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 58 76 6
Cms24 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 24, Presynaptic

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include eye, and related phenotypes are ptosis and nystagmus

Description from OMIM: 618198

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 muscle weakness 33 HP:0001324
4 dysphagia 33 HP:0002015
5 respiratory insufficiency 33 HP:0002093
6 delayed speech and language development 33 HP:0000750
7 feeding difficulties 33 HP:0011968
8 ophthalmoplegia 33 HP:0000602
9 oculomotor apraxia 33 HP:0000657
10 camptodactyly 33 HP:0012385
11 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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
learning disabilities
speech delay
delayed walking
delayed head control
more
Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

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

Skeletal Feet:
foot deformities

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

Anatomical Context for Myasthenic Syndrome, Congenital, 24, Presynaptic

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 24, Presynaptic:

42
Eye

Publications for Myasthenic Syndrome, Congenital, 24, Presynaptic

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

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

Variations for Myasthenic Syndrome, Congenital, 24, Presynaptic

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO9A NM_006901.4(MYO9A): c.6845G> A (p.Gly2282Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 71830304: 71830304
2 MYO9A NM_006901.4(MYO9A): c.6845G> A (p.Gly2282Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 72122645: 72122645
3 MYO9A NM_006901.4(MYO9A): c.608A> G (p.Tyr203Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 72045956: 72045956
4 MYO9A NM_006901.4(MYO9A): c.608A> G (p.Tyr203Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 72338297: 72338297
5 MYO9A MYO9A, ARG1517HIS (rs149046541) undetermined variant Pathogenic
6 MYO9A MYO9A, ARG2283HIS (rs142345927) undetermined variant Pathogenic
7 MYO9A MYO9A, ASP1698GLY (rs150726107) undetermined variant Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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