CMS7
MCID: MYS044
MIFTS: 30
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Myasthenic Syndrome, Congenital, 7, Presynaptic (CMS7)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 7, Presynaptic:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in early childhood two unrelated families have been reported (last curated september 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
UniProtKB/Swiss-Prot :
73
Myasthenic syndrome, congenital, 7, presynaptic: 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. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.
MalaCards based summary : Myasthenic Syndrome, Congenital, 7, Presynaptic, also known as myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy, is related to malt worker's lung and neuromuscular junction disease. An important gene associated with Myasthenic Syndrome, Congenital, 7, Presynaptic is SYT2 (Synaptotagmin 2). Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and skeletal muscle atrophy Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has material basis in heterozygous mutation in the SYT2 gene on chromosome 1q32. OMIM : 56 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS7 is an autosomal dominant CMS resulting from a presynaptic defect; patients have onset of symptoms in early childhood (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616040) |
Diseases in the Presynaptic Congenital Myasthenic Syndromes family:Diseases related to Myasthenic Syndrome, Congenital, 7, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 7, Presynaptic:![]() |
Human phenotypes related to Myasthenic Syndrome, Congenital, 7, Presynaptic:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616040 |
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MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 7, Presynaptic:40
Skeletal Muscle
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Articles related to Myasthenic Syndrome, Congenital, 7, Presynaptic:
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 7, Presynaptic:6
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 7, Presynaptic:73
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 7, Presynaptic.
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Molecular functions related to Myasthenic Syndrome, Congenital, 7, Presynaptic according to GeneCards Suite gene sharing:
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