EKVP6
MCID: ERY068
MIFTS: 16

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 56 73 6
Ekvp6 56 73
Erythrokeratodermia Veriabilis Et Progressiva 6 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in first year of life
initial lesions on distal extremities
intra- and interfamilial variation in disease severity
slowly progressive spontaneous remission after puberty


Classifications:



External Ids:

OMIM 56 618531
OMIM Phenotypic Series 56 PS133200
MeSH 43 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 6

OMIM : 56 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 ekvp6. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 6 is TRPM4 (Transient Receptor Potential Cation Channel Subfamily M Member 4). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 73 Erythrokeratodermia variabilis et progressiva 6: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP6 inheritance is autosomal dominant.

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 6

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 6

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin Histology:
focal parakeratosis
psoriasiform hyperplasia of epidermis
perivascular lymphocytic infiltration, mild, in superficial dermis

Skin Nails Hair Skin:
erythematous hyperkeratotic plaques on dorsal surface of extremities
erythematous hyperkeratotic plaques on periorificial areas
pruritis, mild (in severely affected patients)

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

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 6:

40
Skin, Eye

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. 56 6
30528822 2019

Variations for Erythrokeratodermia Variabilis Et Progressiva 6

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 6:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPM4 NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr)SNV Pathogenic 652587 19:49705386-49705386 19:49202129-49202129
2 TRPM4 NM_017636.4(TRPM4):c.3099C>G (p.Ile1033Met)SNV Pathogenic 652588 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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