Details of Disease | DrugMAP

General Information of Disease (ID: DIS54QNM)

Disease Name	Heart-hand syndrome, Slovenian type
Synonyms	atriodigital dysplasia, Slovenian type; heart-hand syndrome, Slovenian type; Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
Definition	A rare autosomal dominant form of heart-hand syndrome, 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.
Disease Hierarchy	DISLNBZJ: Heart-hand syndrome DIS3HIWD: Autosomal dominant disease DIS54QNM: Heart-hand syndrome, Slovenian type
Disease Identifiers	MONDO ID MONDO_0012417 MESH ID C535852 UMLS CUI C1857829 OMIM ID 610140 MedGen ID 341859 Orphanet ID 168796 SNOMED CT ID 721014007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNA	OT3SG7ZR	Strong	Autosomal dominant	[1]
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References

1	Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?. Clin Genet. 2005 Aug;68(2):155-60. doi: 10.1111/j.1399-0004.2005.00476.x.