MCID: ERY052
MIFTS: 8

Erythrokeratodermia-Cardiomyopathy Syndrome

Categories: Cardiovascular diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratodermia-Cardiomyopathy Syndrome

MalaCards integrated aliases for Erythrokeratodermia-Cardiomyopathy Syndrome:

Name: Erythrokeratodermia-Cardiomyopathy Syndrome 58
Ekc Syndrome 58

Classifications:

Orphanet: 58  
Rare skin diseases
Rare odontological diseases


External Ids:

Orphanet 58 ORPHA476096

Summaries for Erythrokeratodermia-Cardiomyopathy Syndrome

MalaCards based summary : Erythrokeratodermia-Cardiomyopathy Syndrome, also known as ekc syndrome, is related to atrial standstill 1 and cardiomyopathy, dilated, with woolly hair and keratoderma. An important gene associated with Erythrokeratodermia-Cardiomyopathy Syndrome is DSP (Desmoplakin).

Related Diseases for Erythrokeratodermia-Cardiomyopathy Syndrome

Diseases related to Erythrokeratodermia-Cardiomyopathy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.0
2 cardiomyopathy, dilated, with woolly hair and keratoderma 10.0
3 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 10.0

Symptoms & Phenotypes for Erythrokeratodermia-Cardiomyopathy Syndrome

Drugs & Therapeutics for Erythrokeratodermia-Cardiomyopathy Syndrome

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia-Cardiomyopathy Syndrome

Genetic Tests for Erythrokeratodermia-Cardiomyopathy Syndrome

Anatomical Context for Erythrokeratodermia-Cardiomyopathy Syndrome

Publications for Erythrokeratodermia-Cardiomyopathy Syndrome

Articles related to Erythrokeratodermia-Cardiomyopathy Syndrome:

# Title Authors PMID Year
1
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes. 61
33275305 2021
2
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. 61
26604139 2016

Variations for Erythrokeratodermia-Cardiomyopathy Syndrome

Expression for Erythrokeratodermia-Cardiomyopathy Syndrome

Search GEO for disease gene expression data for Erythrokeratodermia-Cardiomyopathy Syndrome.

Pathways for Erythrokeratodermia-Cardiomyopathy Syndrome

GO Terms for Erythrokeratodermia-Cardiomyopathy Syndrome

Sources for Erythrokeratodermia-Cardiomyopathy Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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