MCID: HRT018
MIFTS: 21

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

About this section
Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Heart-Hand Syndrome, Slovenian Type 51 47 24 53 12
Heart-Hand Syndrome Slovenian Type 69 26
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 53
 
Atriodigital Dysplasia, Slovenian Type 53
Hhs-Slovenian 69

Characteristics:

Orphanet epidemiological data:

53
heart-hand syndrome, slovenian type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

63
heart-hand syndrome, slovenian type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 610140
Orphanet53 ORPHA168796
MESH via Orphanet39 C535852
ICD10 via Orphanet30 Q87.2
UMLS via Orphanet68 C1857829
MedGen36 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

About this section
UniProtKB/Swiss-Prot:69 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:51 610140

Related Diseases for Heart-Hand Syndrome, Slovenian Type

About this section

Symptoms for Heart-Hand Syndrome, Slovenian Type

About this section

Symptoms by clinical synopsis from OMIM:

610140

Clinical features from OMIM:

610140

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

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 myopathy63 rare (5%) HP:0003198
2 brachydactyly syndrome63 HP:0001156
3 syndactyly63 HP:0001159
4 dilated cardiomyopathy63 HP:0001644
5 aplasia of the middle phalanx of the hand63 HP:0010239
6 clinodactyly63 HP:0030084

Drugs & Therapeutics for Heart-Hand Syndrome, Slovenian Type

About this section

Interventional clinical trials:

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

Genetic Tests for Heart-Hand Syndrome, Slovenian Type

About this section

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

id Genetic test Affiliating Genes
1 Heart-Hand Syndrome, Slovenian Type26 24 LMNA

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

About this section

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

35
Heart, Bone

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

About this section

Publications for Heart-Hand Syndrome, Slovenian Type

About this section

Variations for Heart-Hand Syndrome, Slovenian Type

About this section

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

About this section
Search GEO for disease gene expression data for Heart-Hand Syndrome, Slovenian Type.

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

About this section

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

About this section

Sources for Heart-Hand Syndrome, Slovenian Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet