Heart-Hand Syndrome, Slovenian Type (HHS-SLOVENIAN)

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OMIM® 57 610140 MESH via Orphanet 45 C535852 ICD10 via Orphanet 33 Q87.2 UMLS via Orphanet 71 C1857829

Orphanet 58 ORPHA168796 MedGen 41 C1857829 SNOMED-CT via HPO 68 129565002 17268007 195021004 229844004 263681008 373413006 399020009 43476002 72654001 more

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168796 Definition 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.

MalaCards based summary : Heart-Hand Syndrome, Slovenian Type, is also known as cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome. An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (Lamin A/C). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and supraventricular arrhythmia

UniProtKB/Swiss-Prot : ⁷² Heart-hand syndrome Slovenian type: Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations.

More information from OMIM: 610140

Clinical features from OMIM®:

610140 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Heart-Hand Syndrome, Slovenian Type

Search GEO for disease gene expression data for Heart-Hand Syndrome, Slovenian Type.