CMS2C
MCID: MYS063
MIFTS: 28

Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency (CMS2C)

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 56 73 29 6
Cms2c 56 12 73
Congenital Myasthenic Syndrome 2c 12 15
Myasthenic Syndrome, Congenital, Type 2c, Associated with Acetylcholine Receptor Deficiency 39
Congenital Myasthenic Syndrome 2c Associated with Acetylcholine Receptor Deficiency 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110680
OMIM 56 616314
OMIM Phenotypic Series 56 PS601462
MeSH 43 D020294

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

UniProtKB/Swiss-Prot : 73 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, also known as cms2c, is related to punctate porokeratosis and porokeratosis. An important gene associated with Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit), and among its related pathways/superpathways is Terpenoid backbone biosynthesis. Related phenotypes are neonatal hypotonia and muscle weakness

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.

OMIM : 56 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)

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

Diseases related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 punctate porokeratosis 10.1 MVK FDPS
2 porokeratosis 10.1 MVK FDPS
3 linear porokeratosis 10.0 MVK FDPS
4 retinitis pigmentosa 69 9.5 MLN DMXL1
5 pelizaeus-merzbacher disease 9.4 RPS3A MVK IPP

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency:



Diseases related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency

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

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

31
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 HP:0001319
2 muscle weakness 31 HP:0001324
3 myopathy 31 HP:0003198
4 feeding difficulties 31 HP:0011968
5 respiratory insufficiency 31 HP:0002093

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle weakness
hypotonia, neonatal
endplate myopathy
decremental response to repetitive nerve stimulation
decreased amplitude of the miniature endplate potential (mepp) and current (mepc)
more
Respiratory:
respiratory insufficiency, episodic

Abdomen Gastrointestinal:
feeding difficulties

Clinical features from OMIM:

616314

GenomeRNAi Phenotypes related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-101 9.02 CPE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.02 FDPS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.02 RPS3A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.02 RPS3A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.02 RPS3A

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...

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

# Title Authors PMID Year
1
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. 56 6
10562302 1999
2
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 56
25792100 2015
3
Congenital Myasthenic Syndromes 6
20301347 2003

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

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRNB1 CHRNB1, 9-BP DEL, NT1276deletion Pathogenic 18374
2 CHRNB1 CHRNB1, EX8DELdeletion Pathogenic 18375

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...

Pathways related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.85 MVK FDPS ACAT1

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

Biological processes related to Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.32 MVK FDPS
2 cholesterol biosynthetic process GO:0006695 9.26 MVK FDPS
3 regulation of cholesterol biosynthetic process GO:0045540 9.16 MVK FDPS
4 sterol biosynthetic process GO:0016126 8.96 MVK FDPS
5 isoprenoid biosynthetic process GO:0008299 8.62 MVK FDPS

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....