congenital myopathy 2C

Summary
Definition
A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
Super Class
autosomal dominant disease congenital myopathy
Disease Ontology
DOID:0081340
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
58 ACTA1 actin alpha 1, skeletal muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
11459 Acta1 actin alpha 1, skeletal muscle
Displaying 1 entry
Gene ID Gene Symbol Description Source
29437 Acta1 actin, alpha 1, skeletal muscle
The Human Phenotype Ontology
Displaying entries 11 - 20 of 31 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0002098 Respiratory distress
HP:0001252 Hypotonia
HP:0003324 Generalized muscle weakness
HP:0000275 Narrow face
HP:0001522 Death in infancy
HP:0003623 Neonatal onset
HP:0001284 Areflexia
HP:0002943 Thoracic scoliosis
HP:0000298 Mask-like facies
Displaying 1 entry
Gene ID Gene Symbol Description
58 ACTA1 actin alpha 1, skeletal muscle

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024