CMS11
MCID: MYS057
MIFTS: 26
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Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (CMS11)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:
Name: Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency
57
75
29
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth favorable response to treatment with cholinesterase inhibitors or amifampridine HPO:32
myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications: |
UniProtKB/Swiss-Prot
:
75
Myasthenic syndrome, congenital, 11, 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. CMS11 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, 11, Associated with Acetylcholine Receptor Deficiency, also known as cms11, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency. An important gene associated with Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency is RAPSN (Receptor Associated Protein Of The Synapse). Related phenotypes are high palate and ptosis Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has material basis in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. 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 cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616326) |
Diseases related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616326Human phenotypes related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:32 (show all 10)
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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:75
ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:6 (show top 50) (show all 101)
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency.
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