MCID: ERY052
MIFTS: 7

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 59
Ekc Syndrome 59

Classifications:



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Orphanet 59 ORPHA476096

Summaries for Erythrokeratodermia-Cardiomyopathy Syndrome

MalaCards based summary : Erythrokeratodermia-Cardiomyopathy Syndrome, is also known as ekc syndrome. An important gene associated with Erythrokeratodermia-Cardiomyopathy Syndrome is DSP (Desmoplakin). Affiliated tissues include skin.

Related Diseases for Erythrokeratodermia-Cardiomyopathy Syndrome

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

MalaCards organs/tissues related to Erythrokeratodermia-Cardiomyopathy Syndrome:

41
Skin

Publications for Erythrokeratodermia-Cardiomyopathy Syndrome

Articles related to Erythrokeratodermia-Cardiomyopathy Syndrome:

# Title Authors Year
1
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome. ( 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 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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