MCID: HRT018
MIFTS: 21

Heart-Hand Syndrome, Slovenian Type malady

Rare diseases, Bone diseases, Fetal diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Heart-Hand Syndrome, Slovenian Type

About this section


Fully expand this MalaCard
MalaCards based summary: Heart-Hand Syndrome, Slovenian Type, is also known as cardiac conduction disease - dilated cardiomyopathy - brachydactyly and has symptoms including 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

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Heart-Hand Syndrome, Slovenian Type 42 22 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 Orphanet26 Q87.2
UMLS via Orphanet63 C1857829

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

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

About this section

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

About this section

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

About this section

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

32
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:

6
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

About this section
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

About this section

Compounds 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

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Heart-Hand Syndrome, Slovenian Type

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet