MCID: MYS050
MIFTS: 17

Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency

Categories: Genetic 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 75 29 6
Cms3c 57 75
Myasthenic Syndrome, Congenital, Type 3c, Associated with Acetylcholine Receptor Deficiency 40
Congenital Myasthenic Syndrome 3c Associated with Acetylcholine Receptor Deficiency 12
Congenital Myasthenic Syndrome 3c 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 high palate and ptosis

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)

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.

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial weakness

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding
swallowing difficulties

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

Head And Neck Eyes:
ptosis

Respiratory:
respiratory insufficiency, episodic

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


Clinical features from OMIM:

616323

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 ptosis 32 HP:0000508
3 generalized hypotonia 32 HP:0001290
4 dysphagia 32 HP:0002015
5 respiratory insufficiency 32 HP:0002093
6 facial palsy 32 HP:0010628
7 feeding difficulties 32 HP:0011968

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...

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

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

75
# Symbol AA change Variation ID SNP ID
1 CHRND p.Glu402Lys VAR_073694 rs145955590

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRND NM_000751.2(CHRND): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs145955590 GRCh38 Chromosome 2, 232534087: 232534087
2 CHRND NM_000751.2(CHRND): c.1204G> A (p.Glu402Lys) single nucleotide variant Pathogenic rs145955590 GRCh37 Chromosome 2, 233398797: 233398797
3 CHRND CHRND, 2.2-KB DEL deletion Pathogenic

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...

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17 ExPASy
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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