MCID: HRT018
MIFTS: 21

Heart-Hand Syndrome, Slovenian Type

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

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

MalaCards integrated aliases for Heart-Hand Syndrome, Slovenian Type:

Name: Heart-Hand Syndrome, Slovenian Type 53 49 55 28 13
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 55
Atriodigital Dysplasia, Slovenian Type 55
Heart-Hand Syndrome Slovenian Type 71
Hhs-Slovenian 71

Characteristics:

Orphanet epidemiological data:

55
heart-hand syndrome, slovenian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
heart-hand syndrome, slovenian type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610140
Orphanet 55 ORPHA168796
MESH via Orphanet 42 C535852
UMLS via Orphanet 70 C1857829
ICD10 via Orphanet 33 Q87.2
MedGen 39 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168796Disease definitionHeart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.Visit the Orphanet disease page for more resources. Last updated: 7/30/2013

MalaCards based summary : Heart-Hand Syndrome, Slovenian Type, is also known as cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome, and has symptoms including abnormality of the foot, brachydactyly and dilated cardiomyopathy. An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (Lamin A/C). Affiliated tissues include heart and bone.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 610140

Related Diseases for Heart-Hand Syndrome, Slovenian Type

Symptoms & Phenotypes for Heart-Hand Syndrome, Slovenian Type

Symptoms via clinical synopsis from OMIM:

53
SkeletalHands:
clinodactyly
brachydactyly

CardiovascularHeart:
cardiomyopathy, dilated
conduction disease, sinoatrial and atrioventricular, progressive
ventricular tachyarrhythmia (can result in sudden death)

NeurologicPeripheralNervousSystem:
proximal weakness, upper extremities (1 patient)

SkeletalFeet:
syndactyly
brachydactyly (more severe than in hands)
short or absent middle phalanges
symphalangism, terminal
duplication of bases of second metatarsals
more
MuscleSoftTissue:
myopathy (rare)


Clinical features from OMIM:

610140

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

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001760
2 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
3 dilated cardiomyopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001644
4 supraventricular arrhythmia 55 31 hallmark (90%) Very frequent (99-80%) HP:0005115
5 abnormal atrioventricular conduction 55 31 hallmark (90%) Very frequent (99-80%) HP:0005150
6 abnormal electrophysiology of sinoatrial node origin 55 31 hallmark (90%) Very frequent (99-80%) HP:0011702
7 clinodactyly 31 HP:0030084
8 myopathy 31 occasional (7.5%) HP:0003198
9 arrhythmia 55 Very frequent (99-80%)
10 syndactyly 31 HP:0001159
11 aplasia of the middle phalanx of the hand 31 HP:0010239

Drugs & Therapeutics for Heart-Hand Syndrome, Slovenian Type

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

Genetic Tests for Heart-Hand Syndrome, Slovenian Type

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

# Genetic test Affiliating Genes
1 Heart-Hand Syndrome, Slovenian Type 28 LMNA

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

38
Heart, Bone

Publications for Heart-Hand Syndrome, Slovenian Type

Variations for Heart-Hand Syndrome, Slovenian Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
2 LMNA NM_170707.3(LMNA): c.1609-12T> G single nucleotide variant Pathogenic rs267607582 GRCh37 Chromosome 1, 156107433: 156107433

Expression for Heart-Hand Syndrome, Slovenian Type

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

Pathways for Heart-Hand Syndrome, Slovenian Type

GO Terms for Heart-Hand Syndrome, Slovenian Type

Sources for Heart-Hand Syndrome, Slovenian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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