MCID: HRT018
MIFTS: 21

Heart-Hand Syndrome, Slovenian Type malady

Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Heart-Hand Syndrome, Slovenian Type

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Sources:
48OMIM, 34MalaCards
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MalaCards: Heart-Hand Syndrome, Slovenian Type, is also known as cardiac conduction disease - dilated cardiomyopathy - brachydactyly An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (lamin A/C). Affiliated tissues include heart and bone.

Description from OMIM:48 610140

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases, Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

50
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

heart-hand syndrome, slovenian type 44 23 48 50
cardiac conduction disease - dilated cardiomyopathy - brachydactyly 50
atrio-digital dysplasia, slovenian type 50


External Ids:

OMIM48 610140
MESH via Orphanet37 C535852
ICD10 via Orphanet27 Q87.2
UMLS via Orphanet64 C1857829

Related Diseases for Heart-Hand Syndrome, Slovenian Type

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Symptoms for Heart-Hand Syndrome, Slovenian Type

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

610140

Clinical features from OMIM:

610140

Drugs & Therapeutics for Heart-Hand Syndrome, Slovenian Type

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Search CenterWatch for Heart-Hand Syndrome, Slovenian Type

Genetic Tests for Heart-Hand Syndrome, Slovenian Type

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Sources:
23GTR
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Genetic tests related to Heart-Hand Syndrome, Slovenian Type:

id Genetic test Affiliating Genes
1 Heart-Hand Syndrome, Slovenian Type23

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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Sources:
34MalaCards
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MalaCards organs/tissues related to Heart-Hand Syndrome, Slovenian Type:

34
Heart, Bone

Animal Models for Heart-Hand Syndrome, Slovenian Type or affiliated genes

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Publications for Heart-Hand Syndrome, Slovenian Type

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Variations for Heart-Hand Syndrome, Slovenian Type

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Heart-Hand Syndrome, Slovenian Type:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMNALMNA, IVS9AS, T-G, -12single nucleotide variantPathogenic/card/heart_hand_syndrome_slovenian_type

Expression for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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

Pathways for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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Compounds for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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GO Terms for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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Products for genes affiliated with Heart-Hand Syndrome, Slovenian Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Heart-Hand Syndrome, Slovenian Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet