EKVP5
MCID: ERY062
MIFTS: 25

Erythrokeratodermia Variabilis Et Progressiva 5 (EKVP5)

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

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 5

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 5:

Name: Erythrokeratodermia Variabilis Et Progressiva 5 57 12 72 29 6
Ekvp5 57 72
Erythrokeratodermia Variabilis 70

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 pakistani kindred (last curated october 2017)
onset in first 2 years of life
all family members had normal hair, teeth, and sweating
no erythematous patches


HPO:

31
erythrokeratodermia variabilis et progressiva 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080251
OMIM® 57 617756
OMIM Phenotypic Series 57 PS133200
MeSH 44 D056266
SNOMED-CT via HPO 68 258211005 706885006 84445001
UMLS 70 C0265961

Summaries for Erythrokeratodermia Variabilis Et Progressiva 5

UniProtKB/Swiss-Prot : 72 Erythrokeratodermia variabilis et progressiva 5: 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. EKVP5 inheritance is autosomal recessive.

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 5, is also known as ekvp5. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 5 is KRT83 (Keratin 83). Affiliated tissues include skin and breast, and related phenotypes are joint stiffness and palmoplantar hyperkeratosis

Disease Ontology : 12 An erythrokeratodermia variabilis that has material basis in homozygous mutation in the KRT83 gene on chromosome 12q13.

More information from OMIM: 617756 PS133200

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 5

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 5

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 5:

31
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 HP:0001387
2 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
hyperkeratosis
palmoplantar hyperkeratosis
lichenified hyperkeratotic plaques, symmetric (face, arms, axillae, legs, hands, feet)
accentuated creases over knees and elbows
peridigital constrictions on dorsa of fingers

Skeletal Hands:
joint stiffness (hands)

Skin Nails Hair Nails:
thick fingernails
thick toenails

Skeletal Limbs:
joint stiffness (elbows and knees)

Skeletal Feet:
joint stiffness (feet)

Clinical features from OMIM®:

617756 (Updated 05-Apr-2021)

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 5

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 5

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 5

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 5:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 5 29 KRT83

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 5

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 5:

40
Skin, Breast

Publications for Erythrokeratodermia Variabilis Et Progressiva 5

Articles related to Erythrokeratodermia Variabilis Et Progressiva 5:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. 57 6
27965375 2017
2
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin. 61
33807656 2021
3
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. 61
33708733 2020
4
Annular epidermolytic ichthyosis: a case report and literature review. 61
32482553 2020
5
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. 61
32311086 2020
6
Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation. 61
31912549 2020
7
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. 61
32211516 2020
8
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome. 61
31465738 2020
9
Erythrokeratodermia variabilis with hypertrichosis on the lesions. 61
31977560 2020
10
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
11
Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva. 61
31793497 2020
12
Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. 61
31599015 2020
13
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. 61
29570224 2019
14
A20 and ABIN1 Suppression of a Keratinocyte Inflammatory Program with a Shared Single-Cell Expression Signature in Diverse Human Rashes. 61
30543901 2019
15
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva. 61
30924322 2019
16
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. 61
30467204 2019
17
Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. 61
29992552 2019
18
Connexin43 mutations linked to skin disease have augmented hemichannel activity. 61
30631135 2019
19
A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive. 61
30628963 2019
20
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. 61
30152556 2018
21
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family. 61
29044474 2018
22
Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva. 61
27890787 2017
23
Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family? 61
26826093 2016
24
Erythrokeratodermia variabilis et progressiva. 61
26945536 2016
25
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism. 61
26251042 2015
26
Case of erythrokeratodermia variabilis successfully treated with oral vitamin A. 61
26283448 2015
27
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. 61
25556823 2015
28
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34. 61
26010696 2015
29
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. 61
25398053 2015
30
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. 61
25964267 2015
31
Radiotherapy for breast cancer and erythrokeratodermia variabilis. 61
25306447 2014
32
A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative. 61
25297803 2014
33
Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis. 61
24754264 2014
34
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. 61
24566826 2014
35
Erythrokeratodermia variabilis: Two case reports. 61
24350021 2013
36
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. 61
23442023 2013
37
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. 61
23037955 2013
38
[Erythrokeratodermia variabilis]. 61
23395496 2013
39
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. 61
22681493 2012
40
A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L). 61
21913904 2012
41
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. 61
21950330 2012
42
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. 61
22266302 2012
43
Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. 61
22393412 2012
44
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. 61
21879244 2011
45
Erythrokeratodermia variabilis: successful treatment with retinoid plus psoralen and ultraviolet A therapy. 61
21352304 2011
46
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia. 61
21198793 2011
47
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. 61
20497287 2011
48
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? 61
20526545 2010
49
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 61
19291775 2009
50
Erythrokeratodermia variabilis: successful palliative treatment with acitretin. 61
19171995 2008

Variations for Erythrokeratodermia Variabilis Et Progressiva 5

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT83 NM_002282.3(KRT83):c.811del (p.Ser271fs) Deletion Pathogenic 446111 rs753293188 GRCh37: 12:52710747-52710747
GRCh38: 12:52316963-52316963
2 KRT83 NM_002282.3(KRT83):c.594-2A>C SNV Pathogenic 1029429 GRCh37: 12:52711756-52711756
GRCh38: 12:52317972-52317972
3 KRT83 NM_002282.3(KRT83):c.76del (p.Arg26fs) Deletion Pathogenic 1029430 GRCh37: 12:52715044-52715044
GRCh38: 12:52321260-52321260

Expression for Erythrokeratodermia Variabilis Et Progressiva 5

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 5.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 5

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 5

Sources for Erythrokeratodermia Variabilis Et Progressiva 5

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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