MCID: ERY056
MIFTS: 16

Erythrokeratodermia Variabilis Et Progressiva 4

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 4

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 4:

Name: Erythrokeratodermia Variabilis Et Progressiva 4 57 12 75 29 6
Ekvp4 57 75

Characteristics:

OMIM:

57
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:

32
erythrokeratodermia variabilis et progressiva 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617526
Disease Ontology 12 DOID:0080250
MeSH 44 D056266
SNOMED-CT via HPO 69 258211005

Summaries for Erythrokeratodermia Variabilis Et Progressiva 4

UniProtKB/Swiss-Prot : 75 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 related phenotype is epidermal acanthosis.

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
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)
erythema and scaling of hands and feet
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

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 4:

32
# Description HPO Frequency HPO Source Accession
1 epidermal acanthosis 32 HP:0025092

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 29 KDSR

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 4

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

41
Skin

Publications for Erythrokeratodermia Variabilis Et Progressiva 4

Variations for Erythrokeratodermia Variabilis Et Progressiva 4

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

75
# Symbol AA change Variation ID SNP ID
1 KDSR p.Tyr186Phe VAR_079187

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KDSR NG_028249.1: g.9461_9463delAAG deletion Pathogenic rs1114167450 GRCh38 Chromosome 18, 63362811: 63362813
2 KDSR NG_028249.1: g.9461_9463delAAG deletion Pathogenic rs1114167450 GRCh37 Chromosome 18, 61030044: 61030046
3 KDSR NM_002035.2(KDSR): c.256-2A> C single nucleotide variant Pathogenic rs1114167451 GRCh37 Chromosome 18, 61022798: 61022798
4 KDSR NM_002035.2(KDSR): c.256-2A> C single nucleotide variant Pathogenic rs1114167451 GRCh38 Chromosome 18, 63355565: 63355565
5 KDSR NM_002035.2(KDSR): c.879G> A (p.Gln293=) single nucleotide variant Pathogenic rs752611378 GRCh38 Chromosome 18, 63335257: 63335257
6 KDSR NM_002035.2(KDSR): c.879G> A (p.Gln293=) single nucleotide variant Pathogenic rs752611378 GRCh37 Chromosome 18, 61002490: 61002490
7 KDSR NM_002035.2(KDSR): c.557A> T (p.Tyr186Phe) single nucleotide variant Pathogenic rs1114167452 GRCh37 Chromosome 18, 61018173: 61018173
8 KDSR NM_002035.2(KDSR): c.557A> T (p.Tyr186Phe) single nucleotide variant Pathogenic rs1114167452 GRCh38 Chromosome 18, 63350940: 63350940

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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