EKVP7
MCID: ERY072
MIFTS: 15

Erythrokeratodermia Variabilis Et Progressiva 7 (EKVP7)

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

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 7

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 7:

Name: Erythrokeratodermia Variabilis Et Progressiva 7 57 6
Ekvp7 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable onset (birth to 3 years)
based on report of 4 patients from 2 families (last curated february 2021)


Classifications:



External Ids:

OMIM® 57 619209
OMIM Phenotypic Series 57 PS133200

Summaries for Erythrokeratodermia Variabilis Et Progressiva 7

OMIM® : 57 Erythrokeratodermia variabilis et progressiva-7 (EKVP7) is characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions. Pruritis, woolly hair, and dystrophic nails may also be present (Duchatelet et al., 2019; Patel et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200). (619209) (Updated 05-Apr-2021)

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 7, is also known as ekvp7. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 7 is PERP (P53 Apoptosis Effector Related To PMP22).

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 7

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 7

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
pruritus
palmoplantar hyperkeratosis
erythrokeratoderma (involving almost all skin)
red, rough, thick skin
hyperpigmented lichenified patches on dorsum of hands and feet
more
Skin Nails Hair Skin Electron Microscopy:
absence of mature desmosomes with electron-dense midline
reduced number of desmosomes in suprabasal layers

Skin Nails Hair Nails:
dystrophic toenails (uncommon)

Skin Nails Hair Skin Histology:
thickened epidermis (acanthosis)
thickened stratum corneum (hyperkeratosis)
increased number of mast cells in dermis
high percentage of proliferating cells in basal layer of interfollicular epidermis

Head And Neck Mouth:
cheilitis (uncommon)

Skin Nails Hair Hair:
woolly hair (uncommon)

Clinical features from OMIM®:

619209 (Updated 05-Apr-2021)

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 7

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 7

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 7

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 7

Publications for Erythrokeratodermia Variabilis Et Progressiva 7

Articles related to Erythrokeratodermia Variabilis Et Progressiva 7:

(showing 2, show less)
# Title Authors PMID Year
1
Confirming the recessive inheritance of PERP-related erythrokeratoderma. 57 6
31898316 2020
2
Mutations in PERP Cause Dominant and Recessive Keratoderma. 57 6
30321533 2019

Variations for Erythrokeratodermia Variabilis Et Progressiva 7

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 7:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PERP NM_022121.5(PERP):c.112del (p.Ser38fs) Deletion Pathogenic 997851 GRCh37: 6:138428366-138428366
GRCh38: 6:138107229-138107229
2 PERP NM_022121.5(PERP):c.466G>A (p.Gly156Arg) SNV Pathogenic 997853 GRCh37: 6:138413295-138413295
GRCh38: 6:138092158-138092158

Expression for Erythrokeratodermia Variabilis Et Progressiva 7

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 7.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 7

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 7

Sources for Erythrokeratodermia Variabilis Et Progressiva 7

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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