EKVP6
MCID: ERY068
MIFTS: 12

Erythrokeratodermia Variabilis Et Progressiva 6 (EKVP6)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 6

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 6:

Name: Erythrokeratodermia Variabilis Et Progressiva 6 57 6
Erythrokeratodermia Veriabilis Et Progressiva 6 57
Ekvp6 57

Classifications:



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Summaries for Erythrokeratodermia Variabilis Et Progressiva 6

OMIM : 57 EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). (618531)

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 6, is also known as erythrokeratodermia veriabilis et progressiva 6. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 6 is TRPM4 (Transient Receptor Potential Cation Channel Subfamily M Member 4).

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 6

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 6

Clinical features from OMIM:

618531

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 6

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 6

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 6

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 6

Publications for Erythrokeratodermia Variabilis Et Progressiva 6

Articles related to Erythrokeratodermia Variabilis Et Progressiva 6:

# Title Authors PMID Year
1
Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia. 8
30528822 2019

Variations for Erythrokeratodermia Variabilis Et Progressiva 6

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPM4 NM_017636.4(TRPM4): c.3119T> C (p.Ile1040Thr) single nucleotide variant Pathogenic 19:49705386-49705386 19:49202129-49202129
2 TRPM4 NM_017636.4(TRPM4): c.3099C> G (p.Ile1033Met) single nucleotide variant Pathogenic 19:49705366-49705366 19:49202109-49202109

Expression for Erythrokeratodermia Variabilis Et Progressiva 6

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 6.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 6

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 6

Sources for Erythrokeratodermia Variabilis Et Progressiva 6

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73 UMLS via Orphanet
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