CMS3C
MCID: MYS050
MIFTS: 21

Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency (CMS3C)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 3c, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 57 72 29 6
Cms3c 57 72
Myasthenic Syndrome, Congenital, Type 3c, Associated with Acetylcholine Receptor Deficiency 39
Congenital Myasthenic Syndrome 3c Associated with Acetylcholine Receptor Deficiency 12
Congenital Myasthenic Syndrome 3c 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient has been reported (last curated april 2015)
favorable response to cholinesterase inhibitor


HPO:

31
myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110664
OMIM® 57 616323
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294

Summaries for Myasthenic Syndrome, Congenital, 3c, Associated with...

UniProtKB/Swiss-Prot : 72 Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency: 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 are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS3C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.

MalaCards based summary : Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency, is also known as cms3c. An important gene associated with Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency is CHRND (Cholinergic Receptor Nicotinic Delta Subunit). Related phenotypes are ptosis and dysphagia

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.

OMIM® : 57 Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616323) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 3c, Associated with...

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 3c, Associated with...

Human phenotypes related to Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 dysphagia 31 HP:0002015
3 facial palsy 31 HP:0010628
4 high palate 31 HP:0000218
5 respiratory insufficiency 31 HP:0002093
6 fatigue 31 HP:0012378
7 feeding difficulties 31 HP:0011968
8 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
facial weakness

Neurologic Central Nervous System:
delayed motor development due to muscle weakness

Muscle Soft Tissue:
hypotonia
muscle weakness, proximal more than distal
abnormal fatigue
decremental compound muscle action potentials (cmap) in response to repetitive nerve stimulation

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

Respiratory:
respiratory insufficiency, episodic

Clinical features from OMIM®:

616323 (Updated 05-Apr-2021)

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 3c, Associated with...

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, 3c, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 29 CHRND

Anatomical Context for Myasthenic Syndrome, Congenital, 3c, Associated with...

Publications for Myasthenic Syndrome, Congenital, 3c, Associated with...

Articles related to Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

# Title Authors PMID Year
1
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. 6 57
16916845 2006
2
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015

Variations for Myasthenic Syndrome, Congenital, 3c, Associated with...

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRND NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) SNV Pathogenic 189817 rs145955590 GRCh37: 2:233398797-233398797
GRCh38: 2:232534087-232534087
2 CHRND CHRND, 2.2-KB DEL Deletion Pathogenic 189818 GRCh37:
GRCh38:
3 CHRND NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) SNV Uncertain significance 548627 rs1553575390 GRCh37: 2:233398774-233398774
GRCh38: 2:232534064-232534064
4 CHRND NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln) SNV Uncertain significance 286380 rs563035306 GRCh37: 2:233398813-233398813
GRCh38: 2:232534103-232534103
5 CHRND NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) SNV Uncertain significance 281423 rs142063328 GRCh37: 2:233396160-233396160
GRCh38: 2:232531450-232531450
6 CHRND NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) SNV Uncertain significance 283138 rs201733876 GRCh37: 2:233394756-233394756
GRCh38: 2:232530046-232530046

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 CHRND p.Glu402Lys VAR_073694 rs145955590

Expression for Myasthenic Syndrome, Congenital, 3c, Associated with...

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency.

Pathways for Myasthenic Syndrome, Congenital, 3c, Associated with...

GO Terms for Myasthenic Syndrome, Congenital, 3c, Associated with...

Sources for Myasthenic Syndrome, Congenital, 3c, Associated with...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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