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CMS14
MCID: MYS078
MIFTS: 43
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Myasthenic Syndrome, Congenital, 14 (CMS14)
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, 14:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset in first decade some patients may become wheelchair-bound favorable response to anticholinesterase medication three unrelated families have been reported (last curated february 2015) HPO:31
myasthenic syndrome, congenital, 14:
Inheritance autosomal recessive inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Muscle diseases Respiratory diseases |
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UniProtKB/Swiss-Prot :
72
Myasthenic syndrome, congenital, 14: 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. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound.
MalaCards based summary : Myasthenic Syndrome, Congenital, 14, also known as myasthenic syndrome, congenital, 14, with tubular aggregates, is related to congenital muscular dystrophy-dystroglycanopathy a14 and hepatic flexure cancer, and has symptoms including waddling gait An important gene associated with Myasthenic Syndrome, Congenital, 14 is ALG2 (ALG2 Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are MNAR-PELP1 and Estrogen Receptor Interaction and CD209 (DC-SIGN) signaling. Affiliated tissues include eye, lung and colon, and related phenotypes are scoliosis and high palate Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has material basis in homozygous mutation in the ALG2 gene on chromosome 9q22. OMIM® : 57 Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616228) (Updated 20-May-2021) |
Human phenotypes related to Myasthenic Syndrome, Congenital, 14:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:616228 (Updated 20-May-2021)UMLS symptoms related to Myasthenic Syndrome, Congenital, 14:waddling gait |
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MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 14:40
Eye,
Lung,
Colon,
Appendix,
Bone,
Small Intestine,
Pancreas
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Articles related to Myasthenic Syndrome, Congenital, 14:
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Genes related to Myasthenic Syndrome, Congenital, 14 (1 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 14:6 (show top 50) (show all 102)
UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 14:72
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Search
GEO
for disease gene expression data for Myasthenic Syndrome, Congenital, 14.
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Cellular components related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:
Biological processes related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:
Molecular functions related to Myasthenic Syndrome, Congenital, 14 according to GeneCards Suite gene sharing:
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