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CMS8
MCID: MYS076
MIFTS: 35
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Myasthenic Syndrome, Congenital, 8 (CMS8)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 8:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity onset in early childhood two families have been reported (last curated april 2014) HPO:31
myasthenic syndrome, congenital, 8:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases |
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UniProtKB/Swiss-Prot :
73
Myasthenic syndrome, congenital, 8: 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. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable.
MalaCards based summary : Myasthenic Syndrome, Congenital, 8, is also known as myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 8 is AGRN (Agrin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Antiarrhythmic Pathway, Pharmacodynamics. Related phenotypes are high palate and respiratory insufficiency Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has material basis in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. OMIM : 56 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (615120) |
Human phenotypes related to Myasthenic Syndrome, Congenital, 8:31 (show all 7)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615120UMLS symptoms related to Myasthenic Syndrome, Congenital, 8:facial paresis |
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Articles related to Myasthenic Syndrome, Congenital, 8:
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Genes related to Myasthenic Syndrome, Congenital, 8 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 8:6 (show top 50) (show all 511)
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 8:73
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 8.
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Cellular components related to Myasthenic Syndrome, Congenital, 8 according to GeneCards Suite gene sharing:
Molecular functions related to Myasthenic Syndrome, Congenital, 8 according to GeneCards Suite gene sharing:
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