MCID: MYS063
MIFTS: 16

Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 2c, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 57 75 29 6
Cms2c 57 12 75
Myasthenic Syndrome, Congenital, Type 2c, Associated with Acetylcholine Receptor Deficiency 40
Congenital Myasthenic Syndrome 2c Associated with Acetylcholine Receptor Deficiency 12
Congenital Myasthenic Syndrome 2c 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
may respond to cholinesterase inhibitors
one family has been reported (last curated april 2015)


HPO:

32
myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 616314
Disease Ontology 12 DOID:0110680
MeSH 44 D020294

Summaries for Myasthenic Syndrome, Congenital, 2c, Associated with...

UniProtKB/Swiss-Prot : 75 Myasthenic syndrome, congenital, 2C, 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. CMS2C 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. CMS2C is clinically characterized by early-onset muscle weakness with variable severity.

MalaCards based summary : Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency, is also known as cms2c. An important gene associated with Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit). Related phenotypes are neonatal hypotonia and muscle weakness

OMIM : 57 Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically 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 cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616314)

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

Related Diseases for Myasthenic Syndrome, Congenital, 2c, Associated with...

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 2c, Associated with...

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency, episodic

Muscle Soft Tissue:
hypotonia, neonatal
muscle weakness
decremental response to repetitive nerve stimulation
decreased amplitude of the miniature endplate potential (mepp) and current (mepc)
endplate myopathy
more
Abdomen Gastrointestinal:
feeding difficulties


Clinical features from OMIM:

616314

Human phenotypes related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 32 HP:0001319
2 muscle weakness 32 HP:0001324
3 respiratory insufficiency 32 HP:0002093
4 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 2c, Associated with...

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, 2c, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 29 CHRNB1

Anatomical Context for Myasthenic Syndrome, Congenital, 2c, Associated with...

Publications for Myasthenic Syndrome, Congenital, 2c, Associated with...

Variations for Myasthenic Syndrome, Congenital, 2c, Associated with...

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNB1 CHRNB1, 9-BP DEL, NT1276 deletion Pathogenic
2 CHRNB1 CHRNB1, EX8DEL deletion Pathogenic

Expression for Myasthenic Syndrome, Congenital, 2c, Associated with...

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency.

Pathways for Myasthenic Syndrome, Congenital, 2c, Associated with...

GO Terms for Myasthenic Syndrome, Congenital, 2c, Associated with...

Sources for Myasthenic Syndrome, Congenital, 2c, Associated with...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....