MCID: HRT018
MIFTS: 20

Heart-Hand Syndrome, Slovenian Type malady

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

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Heart-Hand Syndrome, Slovenian Type 45 10 41 47 22
Cardiac Conduction Disease - Dilated Cardiomyopathy - Brachydactyly 41 47
 
Atrio-Digital Dysplasia, Slovenian Type 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

OMIM45 610140
Orphanet47 168796
MESH via Orphanet34 C535852
ICD10 via Orphanet26 Q87.2
UMLS via Orphanet61 C1857829

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:45 610140

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 Type22

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

31
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:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet