HHS-SLOVENIAN
MCID: HRT018
MIFTS: 21

Heart-Hand Syndrome, Slovenian Type (HHS-SLOVENIAN) 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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Heart-Hand Syndrome, Slovenian Type 52 48 24 54 12
Heart-Hand Syndrome Slovenian Type 70 27
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 54
 
Atriodigital Dysplasia, Slovenian Type 54
Hhs-Slovenian 70

Characteristics:

Orphanet epidemiological data:

54
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

64
heart-hand syndrome, slovenian type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 610140
Orphanet54 ORPHA168796
MESH via Orphanet40 C535852
ICD10 via Orphanet31 Q87.2
UMLS via Orphanet69 C1857829
MedGen37 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

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UniProtKB/Swiss-Prot:70 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 brachydactyly syndrome, syndactyly and dilated cardiomyopathy. An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (Lamin A/C). Affiliated tissues include heart and bone.

Description from OMIM:52 610140

Related Diseases for Heart-Hand Syndrome, Slovenian Type

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Symptoms & Phenotypes for Heart-Hand Syndrome, Slovenian Type

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Symptoms by clinical synopsis from OMIM:

610140

Clinical features from OMIM:

610140

Human phenotypes related to Heart-Hand Syndrome, Slovenian Type:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 brachydactyly syndrome64 HP:0001156
2 syndactyly64 HP:0001159
3 dilated cardiomyopathy64 HP:0001644
4 myopathy64 HP:0003198
5 aplasia of the middle phalanx of the hand64 HP:0010239
6 clinodactyly64 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 Type27 24 LMNA

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

36
Heart, Bone

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> GSNVPathogenicrs267607582GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet