|
CMS23
MCID: MYS080
MIFTS: 14
|
Myasthenic Syndrome, Congenital, 23, Presynaptic (CMS23)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 23, Presynaptic:Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy nonprogressive disease course favorable response to treatment with 3,4-dap or pyridostigmine two sibs born of consanguineous parents have been reported (last curated november 2018) Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
|
UniProtKB/Swiss-Prot
:
76
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).
Description from OMIM:
618197
|
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618197 |
|
|
Genes related to Myasthenic Syndrome, Congenital, 23, Presynaptic (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 23, Presynaptic:6
|
|
Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 23, Presynaptic.
|
|
|
|