MCID: HRT018
MIFTS: 22

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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MalaCards based summary: Heart-Hand Syndrome, Slovenian Type, is also known as cardiac conduction disease - dilated cardiomyopathy - brachydactyly, and has symptoms including myopathy, autosomal dominant inheritance and syndactyly. An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (lamin A/C). Affiliated tissues include heart and bone.

Description from OMIM:46 610140

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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Sources:
42NIH Rare Diseases, 23GTR, 46OMIM, 48Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Heart-Hand Syndrome, Slovenian Type, Aliases & Descriptions:

Name: Heart-Hand Syndrome, Slovenian Type 42 23 46 48
Cardiac Conduction Disease - Dilated Cardiomyopathy - Brachydactyly 48
 
Atrio-Digital Dysplasia, Slovenian Type 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


External Ids:

OMIM46 610140
MESH via Orphanet35 C535852
ICD10 via Orphanet27 Q87.2
UMLS via Orphanet62 C1857829

Related Diseases for Heart-Hand Syndrome, Slovenian Type

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Symptoms for Heart-Hand Syndrome, Slovenian Type

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Symptoms by clinical synopsis from OMIM:

610140

Clinical features from OMIM:

610140

HPO human phenotypes related to Heart-Hand Syndrome, Slovenian Type:

(show all 6)
id Description Frequency HPO Source Accession
1 myopathy rare (5%) HP:0003198
2 autosomal dominant inheritance HP:0000006
3 syndactyly HP:0001159
4 dilated cardiomyopathy HP:0001644
5 aplasia of the middle phalanx of the hand HP:0010239
6 clinodactyly HP:0030084

Drugs & Therapeutics for Heart-Hand Syndrome, Slovenian Type

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Drug clinical trials:

Search ClinicalTrials for Heart-Hand Syndrome, Slovenian Type

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

Genetic Tests for Heart-Hand Syndrome, Slovenian Type

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

32
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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Clinvar genetic disease variations for Heart-Hand Syndrome, Slovenian Type:

7
id Gene Name Type Significance SNP ID Assembly Location
1LMNALMNA, IVS9AS, T-G, -12single nucleotide variantPathogenic

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

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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
  • Proteins
  • Kits and Assays

Sources for Heart-Hand Syndrome, Slovenian Type

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet