HHS-SLOVENIAN
MCID: HRT018
MIFTS: 21

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

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

Aliases & Classifications for Heart-Hand Syndrome, Slovenian Type

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

Name: Heart-Hand Syndrome, Slovenian Type 54 50 24 56 13
Heart-Hand Syndrome Slovenian Type 66 29
Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome 56
Atriodigital Dysplasia, Slovenian Type 56
Hhs-Slovenian 66

Characteristics:

Orphanet epidemiological data:

56
heart-hand syndrome, slovenian type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

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


Classifications:



External Ids:

OMIM 54 610140
Orphanet 56 ORPHA168796
MESH via Orphanet 43 C535852
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 70 C1857829
MedGen 40 C1857829

Summaries for Heart-Hand Syndrome, Slovenian Type

UniProtKB/Swiss-Prot : 66 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 clinodactyly, myopathy and brachydactyly syndrome. An important gene associated with Heart-Hand Syndrome, Slovenian Type is LMNA (Lamin A/C). Affiliated tissues include heart and bone.

Description from OMIM: 610140

Related Diseases for Heart-Hand Syndrome, Slovenian Type

Symptoms & Phenotypes for Heart-Hand Syndrome, Slovenian Type

Symptoms by clinical synopsis from OMIM:

610140

Clinical features from OMIM:

610140

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

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 myopathy 32 HP:0003198
3 brachydactyly syndrome 32 HP:0001156
4 dilated cardiomyopathy 32 HP:0001644
5 syndactyly 32 HP:0001159
6 aplasia of the middle phalanx of the hand 32 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:

id Genetic test Affiliating Genes
1 Heart-Hand Syndrome, Slovenian Type 29 24 LMNA

Anatomical Context for Heart-Hand Syndrome, Slovenian Type

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

39
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
id Gene Variation Type Significance SNP ID Assembly Location
1 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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