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

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OMIM 57 610140 Orphanet 59 ORPHA168796 MESH via Orphanet 45 C535852 ICD10 via Orphanet 34 Q87.2

UMLS via Orphanet 74 C1857829 MedGen 42 C1857829 SNOMED-CT via HPO 69 263681008 43476002 373413006 195021004 399020009 229844004 129565002 72654001 17268007 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168796Disease definitionHeart-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.Visit the Orphanet disease page for more resources.

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 bone, and related phenotypes are abnormality of the foot and dilated cardiomyopathy

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Description from OMIM: 610140

Clinical features from OMIM:

610140

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.