MCID: HRT018
MIFTS: 21

Heart-Hand Syndrome, Slovenian Type

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

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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

Name: Heart-Hand Syndrome, Slovenian Type 57 53 59 29 13 6 40
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 59
Atriodigital Dysplasia, Slovenian Type 59
Heart-Hand Syndrome Slovenian Type 75
Hhs-Slovenian 75

Characteristics:

Orphanet epidemiological data:

59
heart-hand syndrome, slovenian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
heart-hand syndrome, slovenian type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610140
Orphanet 59 ORPHA168796
MESH via Orphanet 45 C535852
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 74 C1857829
MedGen 42 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

NIH Rare Diseases : 53 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.

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

UniProtKB/Swiss-Prot : 75 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:

57
Skeletal Hands:
clinodactyly
brachydactyly

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

Neurologic Peripheral Nervous System:
proximal weakness, upper extremities (1 patient)

Skeletal Feet:
syndactyly
brachydactyly (more severe than in hands)
short or absent middle phalanges
symphalangism, terminal
duplication of bases of second metatarsals
more
Muscle Soft Tissue:
myopathy (rare)


Clinical features from OMIM:

610140

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

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
2 abnormality of the foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001760
3 supraventricular arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005115
4 abnormal atrioventricular conduction 59 32 hallmark (90%) Very frequent (99-80%) HP:0005150
5 abnormal electrophysiology of sinoatrial node origin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011702
6 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
7 arrhythmia 59 Very frequent (99-80%)
8 syndactyly 32 HP:0001159
9 myopathy 32 occasional (7.5%) HP:0003198
10 aplasia of the middle phalanx of the hand 32 HP:0010239
11 clinodactyly 32 HP:0030084

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 29 LMNA

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

41
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_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
3 LMNA NM_170707.3(LMNA): c.1609-12T> G single nucleotide variant Pathogenic rs267607582 GRCh37 Chromosome 1, 156107433: 156107433
4 LMNA NM_170707.3(LMNA): c.1609-12T> G single nucleotide variant Pathogenic rs267607582 GRCh38 Chromosome 1, 156137642: 156137642

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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