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CMS16
MCID: MYS064
MIFTS: 33
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Myasthenic Syndrome, Congenital, 16 (CMS16)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 16:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity two unrelated patients have been reported (last curated october 2015) HPO:31
myasthenic syndrome, congenital, 16:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Eye diseases Respiratory diseases |
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UniProtKB/Swiss-Prot :
72
Myasthenic syndrome, congenital, 16: 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. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.
MalaCards based summary : Myasthenic Syndrome, Congenital, 16, also known as cms16, is related to periodic paralyses and normokalemic periodic paralysis. An important gene associated with Myasthenic Syndrome, Congenital, 16 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Related phenotypes are high palate and hyperlordosis Disease Ontology : 12 A congenital myasthenic syndrome that has material basis in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. OMIM® : 57 Congenital myasthenic syndrome is a disorder characterized by variable degrees of muscle fatigability caused by impaired transmission of electrical signals at the neuromuscular junction (NMJ) (summary by Arnold et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (614198) (Updated 05-Apr-2021) |
Human phenotypes related to Myasthenic Syndrome, Congenital, 16:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:614198 (Updated 05-Apr-2021) |
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Articles related to Myasthenic Syndrome, Congenital, 16:
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Genes related to Myasthenic Syndrome, Congenital, 16 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 16:6 (show top 50) (show all 241)
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 16:72
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 16.
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Cellular components related to Myasthenic Syndrome, Congenital, 16 according to GeneCards Suite gene sharing:
Biological processes related to Myasthenic Syndrome, Congenital, 16 according to GeneCards Suite gene sharing:
Molecular functions related to Myasthenic Syndrome, Congenital, 16 according to GeneCards Suite gene sharing:
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