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MCID: MYS064
MIFTS: 22
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Myasthenic Syndrome, Congenital, 16
Categories:
Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 16:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity two unrelated patients have been reported (last curated october 2015) HPO:32
myasthenic syndrome, congenital, 16:
Onset and clinical course variable expressivity infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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UniProtKB/Swiss-Prot
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75
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 congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Congenital, 16 is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4). Related phenotypes are high palate and ptosis 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) |
Diseases in the Congenital Myasthenic Syndrome family:Diseases related to Myasthenic Syndrome, Congenital, 16 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614198Human phenotypes related to Myasthenic Syndrome, Congenital, 16:32 (show all 9)
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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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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 16:75
ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 16:6
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 16.
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