HHS-SLOVENIAN
MCID: HRT018
MIFTS: 21
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Heart-Hand Syndrome, Slovenian Type (HHS-SLOVENIAN)
Categories:
Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Heart-Hand Syndrome, Slovenian Type:
Characteristics:Orphanet epidemiological data:59
heart-hand syndrome, slovenian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Cardiovascular diseases
ICD10:
34
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610140Human phenotypes related to Heart-Hand Syndrome, Slovenian Type:59 32 (show all 11)
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MalaCards organs/tissues related to Heart-Hand Syndrome, Slovenian Type:41
Heart,
Bone
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ClinVar genetic disease variations for Heart-Hand Syndrome, Slovenian Type:6
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Search
GEO
for disease gene expression data for Heart-Hand Syndrome, Slovenian Type.
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