Heart-hand syndrome, Slovenian type Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. (Orphanet Rare Disease Ontology, Orphanet_168796)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535852
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Heart-hand syndrome, Slovenian type from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
LMNA lamin A/C 2.88009