EKVP4
MCID: ERY056
MIFTS: 22

Erythrokeratodermia Variabilis Et Progressiva 4 (EKVP4)

Categories: Eye diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 6
Ekvp4 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
erythrokeratodermia variabilis et progressiva 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080250
OMIM® 57 617526
OMIM Phenotypic Series 57 PS133200
MeSH 44 D056266

Summaries for Erythrokeratodermia Variabilis Et Progressiva 4

UniProtKB/Swiss-Prot : 72 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 palmoplantar hyperkeratosis

Disease Ontology : 12 An erythrokeratodermia variabilis that 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 and that has material basis in compound heterozygous mutation in the KDSR gene on chromosome 18q21.

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) (Updated 20-May-2021)

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:

31
# Description HPO Frequency HPO Source Accession
1 erythema 31 HP:0010783
2 palmoplantar hyperkeratosis 31 HP:0000972
3 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Skin, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 4

Articles related to Erythrokeratodermia Variabilis Et Progressiva 4:

# Title Authors PMID Year
1
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. 57 6
28575652 2017
2
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. 61
30467204 2019

Variations for Erythrokeratodermia Variabilis Et Progressiva 4

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KDSR NM_002035.4(KDSR):c.164_166del (p.Gln55_Gly56delinsArg) Deletion Pathogenic 427789 rs1114167450 GRCh37: 18:61030044-61030046
GRCh38: 18:63362811-63362813
2 KDSR NM_002035.4(KDSR):c.557A>T (p.Tyr186Phe) SNV Pathogenic 427792 rs1114167452 GRCh37: 18:61018173-61018173
GRCh38: 18:63350940-63350940
3 KDSR NM_002035.4(KDSR):c.256-2A>C SNV Pathogenic 427790 rs1114167451 GRCh37: 18:61022798-61022798
GRCh38: 18:63355565-63355565
4 KDSR NM_002035.4(KDSR):c.879G>A (p.Gln293=) SNV Pathogenic 427791 rs752611378 GRCh37: 18:61002490-61002490
GRCh38: 18:63335257-63335257

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

72
# Symbol AA change Variation ID SNP ID
1 KDSR p.Tyr186Phe VAR_079187 rs111416745

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....