Congenital myopathy 2b, severe infantile, autosomal recessive

Log in to bookmark this disease

Bookmark This Disease

Subtype of: Congenital myopathy
Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Congenital myopathy 2B, severe infantile, autosomal recessive
MONDO_0859517
ACTA1 Causal
10508519 12921789
Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Congenital myopathy 2b, severe infantile, autosomal recessive.
5 View disease cluster →
Alpha-actinopathy 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Zebra body myopathy 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Nemaline myopathy 3, autosomal dominant or recessive 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Myopathy, actin, congenital, with excess of thin myofilaments 1 shared geneACTA1 Related via 1 shared gene including ACTA1. Congenital myopathy 2a, typical, autosomal dominant 1 shared geneACTA1 Related via 1 shared gene including ACTA1.