MCID: HRT018
MIFTS: 16

Heart-Hand Syndrome, Slovenian Type malady

Bone, Fetal, Cardiovascular categories

Summaries for Heart-Hand Syndrome, Slovenian Type

Sources:
47OMIM, 33MalaCards
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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.

Description from OMIM:47 610140

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


Aliases & Descriptions:

heart-hand syndrome, slovenian type 43 22 47 49
cardiac conduction disease - dilated cardiomyopathy - brachydactyly 49
atrio-digital dysplasia, slovenian type 49


External Ids:

OMIM47 610140
MESH via Orphanet36 C535852
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet62 C1857829

Related Diseases for Heart-Hand Syndrome, Slovenian Type

Clinical Features for Heart-Hand Syndrome, Slovenian Type

Sources:
47OMIM
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Clinical features from OMIM:

610140

Clinical synopsis from OMIM:

610140

Drugs & Therapeutics for Heart-Hand Syndrome, Slovenian Type

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Heart-Hand Syndrome, Slovenian Type

Drug clinical trials:

Search ClinicalTrials for Heart-Hand Syndrome, Slovenian Type

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

Sources:
22GTR
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Genetic tests related to Heart-Hand Syndrome, Slovenian Type:

id Genetic test Affiliating Genes
1 Heart-hand Syndrome, Slovenian Type22

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

Sources:
33MalaCards
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MalaCards organs/tissues related to Heart-Hand Syndrome, Slovenian Type:

33
Heart

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

Sources:
28inGenious Targeting Laboratory
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Publications for Heart-Hand Syndrome, Slovenian Type

Sources:
51PubMed
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Articles related to Heart-Hand Syndrome, Slovenian Type:

idTitleAuthorsYear
1
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. (18611980)
2008

Genetic Variations for Heart-Hand Syndrome, Slovenian Type

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

Sources:
1BioGPS, 15Gene 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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Heart-Hand Syndrome, Slovenian Type

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet