| Symbol
| EKV
|
| Location
| 1p34.3
|
| HGNC id
| 3307
|
| Name
|
erythrokeratodermia variabilis et progressiva |
| Other name(s)
|
erythrokeratodermia variabilis of Mendes da Costa |
| Corresponding gene
|
GJB3
, GJB4
|
| Other symbol(s)
| PPKD3, EKVP1, EKVP2
|
| Main clinical features
|
indepedent occurence of transient figurate red patches and localized or generalized hyperkeratosis, and erythema gyratum repens excluding palmoplantar keratoderma, diffuse, Greither type |
| Genetic determination
| autosomal dominant |
|
| autosomal recessive |
| Related entries
| including EKV associated with ataxia
|
| Function/system disorder
| dermatology |
| Type
| disease
|
| Name
| gap junction protein beta 3
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
|
| mutation in the N terminal or in the M1 domain
| | missense
|
|
| L209F, recurrent mutation, affecting a conserved residue in the cytoplasmic carboxy-terminus of any connexin gene with a cutaneous phenotype, emphasizing its structural and/or functional importance
| |
| Remark(s)
|
Gly12Asp (G12D) causes erythrokeratodermia variabilis and progressive symmetric erythrokeratodermia (PMID: 19291775)) |