EKVP4
MCID: ERY056
MIFTS: 19

Erythrokeratodermia Variabilis Et Progressiva 4 (EKVP4)

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

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 4

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 4:

Name: Erythrokeratodermia Variabilis Et Progressiva 4 58 12 76 30 6
Ekvp4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
four unrelated patients have been reported (last curated june 2017)
thick or tight red skin is present at birth or develops in neonatal period and is replaced by scaly skin lesions by 4 months of age
symptoms are exacerbated by cold weather
some patients respond to treatment with systemic retinoids


HPO:

33
erythrokeratodermia variabilis et progressiva 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Erythrokeratodermia Variabilis Et Progressiva 4

UniProtKB/Swiss-Prot : 76 Erythrokeratodermia variabilis et progressiva 4: 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.

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 4, is also known as ekvp4. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 4 is KDSR (3-Ketodihydrosphingosine Reductase). Affiliated tissues include skin and eye, and related phenotypes are erythema and epidermal acanthosis

OMIM : 58 Erythrokeratodermia variabilis et progressiva-4 is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet (summary by Boyden et al., 2017). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). (617526)

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 4

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 4

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 4:

33
# Description HPO Frequency HPO Source Accession
1 erythema 33 HP:0010783
2 epidermal acanthosis 33 HP:0025092
3 palmoplantar hyperkeratosis 33 HP:0000972

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
hyperkeratosis, localized symmetrical
thickened red skin with vernix at birth (in some patients)
collodion membrane (in 1 patient)
thickened scaly plaques (cheeks, periocular area, torso, legs, arms, and genitals)
more
Skin Nails Hair Skin Histology:
acanthosis
sparse to absent keratohyalin granules in granular layer
retention of nuclei in stratum corneum

Clinical features from OMIM:

617526

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 4

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 4

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 4

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 4:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 4 30 KDSR

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 4

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 4:

42
Skin, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 4

Articles related to Erythrokeratodermia Variabilis Et Progressiva 4:

# Title Authors Year
1
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. ( 28575652 )
2017

Variations for Erythrokeratodermia Variabilis Et Progressiva 4

UniProtKB/Swiss-Prot genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 4:

76
# Symbol AA change Variation ID SNP ID
1 KDSR p.Tyr186Phe VAR_079187 rs111416745

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KDSR NC_000018.10: g.63362811_63362813delCTT deletion Pathogenic rs1114167450 GRCh38 Chromosome 18, 63362811: 63362813
2 KDSR NC_000018.10: g.63362811_63362813delCTT deletion Pathogenic rs1114167450 GRCh37 Chromosome 18, 61030044: 61030046
3 KDSR NM_002035.4(KDSR): c.256-2A> C single nucleotide variant Pathogenic rs1114167451 GRCh37 Chromosome 18, 61022798: 61022798
4 KDSR NM_002035.4(KDSR): c.256-2A> C single nucleotide variant Pathogenic rs1114167451 GRCh38 Chromosome 18, 63355565: 63355565
5 KDSR NM_002035.4(KDSR): c.879G> A (p.Gln293=) single nucleotide variant Pathogenic rs752611378 GRCh38 Chromosome 18, 63335257: 63335257
6 KDSR NM_002035.4(KDSR): c.879G> A (p.Gln293=) single nucleotide variant Pathogenic rs752611378 GRCh37 Chromosome 18, 61002490: 61002490
7 KDSR NM_002035.4(KDSR): c.557A> T (p.Tyr186Phe) single nucleotide variant Pathogenic rs1114167452 GRCh38 Chromosome 18, 63350940: 63350940
8 KDSR NM_002035.4(KDSR): c.557A> T (p.Tyr186Phe) single nucleotide variant Pathogenic rs1114167452 GRCh37 Chromosome 18, 61018173: 61018173

Expression for Erythrokeratodermia Variabilis Et Progressiva 4

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 4.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 4

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 4

Sources for Erythrokeratodermia Variabilis Et Progressiva 4

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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
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