MCID: HRT018
MIFTS: 22

Heart-Hand Syndrome, Slovenian Type malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Heart-Hand Syndrome, Slovenian Type 50 46 52 12
Heart-Hand Syndrome Slovenian Type 68 25
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 52
 
Atriodigital Dysplasia, Slovenian Type 52
Hhs-Slovenian 68

Characteristics:

Orphanet epidemiological data:

52
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

62
heart-hand syndrome, slovenian type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 610140
Orphanet52 ORPHA168796
ICD10 via Orphanet29 Q87.2
MESH via Orphanet38 C535852
UMLS via Orphanet67 C1857829
MedGen35 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Heart-Hand Syndrome, Slovenian Type, is also known as heart-hand syndrome slovenian type, and has symptoms including myopathy, brachydactyly syndrome 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:50 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 brachydactyly syndrome HP:0001156
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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Interventional clinical trials:

Search ClinicalTrials, 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 Type25

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1609-12T> Gsingle nucleotide variantPathogenicrs267607582GRCh37Chr 1, 156107433: 156107433

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

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Sources for Heart-Hand Syndrome, Slovenian Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet