HHS-SLOVENIAN
MCID: HRT018
MIFTS: 23

Heart-Hand Syndrome, Slovenian Type (HHS-SLOVENIAN)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare 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 20 58 29 13 6
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 58
Atriodigital Dysplasia, Slovenian Type 58
Syndrome, Heart-Hand, Slovenian Type 39
Heart-Hand Syndrome Slovenian Type 72
Hhs-Slovenian 72

Characteristics:

Orphanet epidemiological data:

58
heart-hand syndrome, slovenian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 610140
MESH via Orphanet 45 C535852
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 71 C1857829
Orphanet 58 ORPHA168796
MedGen 41 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 168796 Definition Heart-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.

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 related phenotypes are dilated cardiomyopathy and supraventricular arrhythmia

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 610140

Related Diseases for Heart-Hand Syndrome, Slovenian Type

Symptoms & Phenotypes for Heart-Hand Syndrome, Slovenian Type

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

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
2 supraventricular arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005115
3 abnormal atrioventricular conduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0005150
4 abnormal electrophysiology of sinoatrial node origin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011702
5 abnormal foot morphology 31 hallmark (90%) HP:0001760
6 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
7 myopathy 31 occasional (7.5%) HP:0003198
8 arrhythmia 58 Very frequent (99-80%)
9 abnormality of the foot 58 Very frequent (99-80%)
10 clinodactyly 31 HP:0030084
11 syndactyly 31 HP:0001159
12 aplasia of the middle phalanx of the hand 31 HP:0010239

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
brachydactyly
clinodactyly

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 (Updated 05-Apr-2021)

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:

40
Heart

Publications for Heart-Hand Syndrome, Slovenian Type

Articles related to Heart-Hand Syndrome, Slovenian Type:

# Title Authors PMID Year
1
Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly. 6 57
27723096 2017
2
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. 6 57
18611980 2008
3
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? 6 57
15996213 2005

Variations for Heart-Hand Syndrome, Slovenian Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
2 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
3 LMNA NM_170707.4(LMNA):c.1609-12T>G SNV Pathogenic 66855 rs267607582 GRCh37: 1:156107433-156107433
GRCh38: 1:156137642-156137642
4 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
5 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
6 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
7 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
8 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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