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 60
Ekc Syndrome 60

Classifications:



External Ids:

Orphanet 60 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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....