CMS23
MCID: MYS080
MIFTS: 20
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Myasthenic Syndrome, Congenital, 23, Presynaptic (CMS23)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 23, Presynaptic:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy nonprogressive disease course favorable response to treatment with 3,4-dap or pyridostigmine HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases |
UniProtKB/Swiss-Prot :
73
Myasthenic syndrome, congenital, 23, 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 include easy fatigability and muscle weakness. CMS23 inheritance is autosomal recessive.
MalaCards based summary : Myasthenic Syndrome, Congenital, 23, Presynaptic, is also known as cms23. An important gene associated with Myasthenic Syndrome, Congenital, 23, Presynaptic is SLC25A1 (Solute Carrier Family 25 Member 1). Related phenotypes are ptosis and easy fatigability |
Human phenotypes related to Myasthenic Syndrome, Congenital, 23, Presynaptic:31 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618197 (Updated 05-Mar-2021) |
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Articles related to Myasthenic Syndrome, Congenital, 23, Presynaptic:
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:6
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:73
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 23, Presynaptic.
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