EKVP1
MCID: ERY053
MIFTS: 57

Erythrokeratodermia Variabilis Et Progressiva 1 (EKVP1)

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

Aliases & Classifications for Erythrokeratodermia Variabilis Et Progressiva 1

MalaCards integrated aliases for Erythrokeratodermia Variabilis Et Progressiva 1:

Name: Erythrokeratodermia Variabilis Et Progressiva 1 57 12 72 29 6
Erythrokeratodermia Variabilis 57 12 20 43 58 72 36 29 54 44 15 70
Erythrokeratodermia Variabilis Et Progressiva 57 20 43 72 13 39
Ekv 57 20 43 58 72
Greither Disease 12 58 72 70
Ekvp 57 20 43 72
Erythrokeratodermia, Progressive Symmetric 57 20 43
Erythrokeratoderma Variabilis Progressiva 20 58 29
Progressive Symmetric Erythrokeratodermia 20 58 72
Psek 57 20 72
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 57 72
Keratosis Palmoplantaris Transgrediens Et Progrediens 58 72
Transgrediens Et Progrediens Palmoplantar Keratoderma 58 72
Erythrokeratodermia Variabilis, Mendes Da Costa Type 20 58
Darier-Gottron Disease 20 58
Ekvp1 57 72
Erythrokeratodermia Figurata, Congenital Familial, in Plaques 57
Congenital Familial Erythrokeratodermia Figurata in Plaques 72
Progressive Symmetric Erythrokeratodermia, Gottron Type 58
Progressive Symmetrical Erythrokeratoderma of Gottron 43
Erythrokeratodermia Variabilis Et Progressiva; Ekvp 57
Erythrokeratodermia Variabilis Mendes Da Costa Type 72
Erythrokeratodermia Variabilis of Mendes Da Costa 43
Erythrokeratodermia, Progressive Symmetric; Psek 57
Keratosis Extremitatum Hereditaria Progrediens 58
Progressive Diffuse Palmoplantar Keratoderma 58
Progressiva Symmetrica Erythrokeratodermia 20
Erythrokeratodermia Progressiva Symmetrica 58
Erythrokeratodermia Progressive Symmetric 72
Keratoderma Palmoplantaris Transgrediens 70
Erythrokeratodermia Figurata Variabilis 12
Erythrokeratodermia Variabilis; Ekv 57
Transgrediens Et Progrediens Ppk 58
Progressive Diffuse Ppk 58
Ekv-P 43

Characteristics:

Orphanet epidemiological data:

58
erythrokeratoderma variabilis progressiva
Prevalence: <1/1000000 (France); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;
erythrokeratodermia variabilis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
progressive symmetric erythrokeratodermia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
phenotypic variability
onset of skin lesions in early infancy
improvement after puberty (in some patients)
transient red patches occur on any body site
more frequent occurrence with exposure to cold and wet climate (in some patients)
worsening of lesions in summer (in some patients)
lesions elicited by pressure on skin (in some patients)
some patients respond to retinoid therapy
autosomal recessive inheritance in one family (see )

Inheritance:
autosomal dominant
autosomal recessive (rare)


HPO:

31
erythrokeratodermia variabilis et progressiva 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


Summaries for Erythrokeratodermia Variabilis Et Progressiva 1

MedlinePlus Genetics : 43 Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 1, also known as erythrokeratodermia variabilis, is related to mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma and palmoplantar keratosis. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 1 is GJB3 (Gap Junction Protein Beta 3), and among its related pathways/superpathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, eye and testis, and related phenotypes are microcephaly and short stature

Disease Ontology : 12 A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has material basis in mutations in genes encoding for connexin channels proteins in the epidermis.

GARD : 20 Erythrokeratodermia variabilis et progressiva is a skin condition characterized by well-defined round or oval red scaly patches that may join together to form map-like patterns. Some patches are fixed, occurring most often on the outer surfaces of the arms and legs, while others are migratory - lasting for hours to days and then fading or moving to another location. Some skin lesions are accompanied by burning or itching sensations. Common triggers include emotional stress, temperature changes, mechanical friction and hot or cold weather. Skin lesions often occur during the fist year of life, gradually progress during childhood, and then stabilize during puberty. Treatment is aimed at alleviating symptoms and may include topical retinoids or antihistamines.

OMIM® : 57 The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). (133200) (Updated 20-May-2021)

KEGG : 36 Erythrokeratoderma variabilis is a rare genodermatosis characterized by both transient, demarcated erythema and persistent hyperkeratosis. Lesions usually appear within the first year of life but may arise later in childhood. Diffuse palmoplantar keratoderma is common. Erythrokeratodermia variabilis et progressiva (EKVP) is caused by mutations in GJB3, GJB4, and GJA1, the genes encoding for connexin channels proteins in the epidermis.

UniProtKB/Swiss-Prot : 72 Erythrokeratodermia variabilis et progressiva 1: 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.
Progressive symmetric erythrokeratodermia: Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques.

Wikipedia : 73 Erythrokeratodermia variabilis (also known as "erythrokeratodermia figurata variabilis", "keratosis... more...

Related Diseases for Erythrokeratodermia Variabilis Et Progressiva 1

Diseases in the Erythrokeratodermia Variabilis Et Progressiva 1 family:

Erythrokeratodermia Variabilis Et Progressiva 2 Erythrokeratodermia Variabilis Et Progressiva 3
Erythrokeratodermia Variabilis Et Progressiva 4 Erythrokeratodermia Variabilis Et Progressiva 5
Erythrokeratodermia Variabilis Et Progressiva 6 Erythrokeratodermia Variabilis Et Progressiva 7

Diseases related to Erythrokeratodermia Variabilis Et Progressiva 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 33.0 GJB4 GJB3 ELOVL4 AP1S1
2 palmoplantar keratosis 31.1 LORICRIN KRT1 GJB4 GJB3 GJB2 GJA1
3 nevus, epidermal 31.0 KRT1 GJB4 GJB3 GJB2
4 skin disease 30.9 LORICRIN KRT1 GJB6 GJB4 GJB3 GJB2
5 keratosis 30.9 LORICRIN KRT1 GJB3 GJB2 GJA1
6 keratitis-ichthyosis-deafness syndrome, autosomal dominant 30.7 GJB6 GJB2 GJA1
7 keratitis, hereditary 30.6 GJB6 GJB2 CRYAA
8 erythrokeratoderma 30.6 LORICRIN KRT83 KDSR GJB5 GJB4 GJB3
9 autosomal recessive congenital ichthyosis 30.6 LORICRIN KRT1 KDSR ELOVL4
10 pseudoainhum 30.6 LORICRIN GJB6 GJB4 GJB3 GJB2 GJA1
11 ichthyosis 30.5 LORICRIN KRT1 GJB6 GJB2 GJA1 ELOVL4
12 oculodentodigital dysplasia 30.3 GJC3 GJB6 GJB4 GJB3 GJB2 GJB1
13 sensorineural hearing loss 30.3 GJB6 GJB3 GJB2 GJB1 AP1S1
14 erythrokeratodermia variabilis et progressiva 5 12.0
15 papillon-lefevre syndrome 11.5
16 rothmund-thomson syndrome, type 2 11.2
17 keratoderma palmoplantaris transgrediens 11.2
18 spinocerebellar ataxia 34 11.2
19 ichthyosis hystrix, curth-macklin type 11.2
20 erythrokeratodermia variabilis et progressiva 2 10.9
21 erythrokeratodermia variabilis et progressiva 3 10.9
22 erythrokeratodermia variabilis et progressiva 4 10.9
23 erythrokeratodermia variabilis et progressiva 6 10.9
24 erythrokeratodermia variabilis et progressiva 7 10.9
25 nonsyndromic hearing loss and deafness, dfna3 10.5 GJB6 GJB2
26 mature cataract 10.5 GJA8 CRYAA
27 ainhum 10.5 LORICRIN GJB4 GJB2
28 hypotrichosis-deafness syndrome 10.5 GJB4 GJB3 GJB2
29 purulent labyrinthitis 10.4 GJB6 GJB2
30 x-linked charcot-marie-tooth disease 10.4 GJB2 GJB1
31 labyrinthitis 10.4 GJB6 GJB2
32 viral labyrinthitis 10.4 GJB6 GJB2
33 nonsyndromic hearing loss and deafness, dfnb1 10.4 GJB6 GJB3 GJB2
34 dfnb1 10.4 GJB6 GJB3 GJB2
35 deafness, autosomal dominant 2b 10.4 GJB3 GJB2
36 drug-induced hearing loss 10.4 GJB3 GJB2
37 palmoplantar keratoderma, epidermolytic 10.4
38 deafness, autosomal dominant 3b 10.4 GJB6 GJB3 GJB2
39 deafness, autosomal recessive 1b 10.4 GJB6 GJB3 GJB2
40 vestibular disease 10.4 GJB6 GJB3 GJB2
41 x-linked nonsyndromic deafness 10.4 GJB6 GJB3 GJB2
42 cataract 9, multiple types 10.4 GJA8 CRYAA
43 deafness, autosomal dominant 9 10.4 GJB6 GJB3 GJB2
44 hallermann-streiff syndrome 10.4 GJB1 GJA1 CRYAA
45 acrokeratoderma, hereditary papulotranslucent 10.4 KRT1 GJB2
46 congenital cytomegalovirus 10.4 GJB6 GJB2
47 hereditary hearing loss and deafness 10.4 GJB6 GJB3 GJB2
48 deafness, x-linked 2 10.4 GJB6 GJB3 GJB2
49 balo concentric sclerosis 10.4 GJC3 GJB6
50 deafness, autosomal recessive 12 10.4 GJB6 GJB3 GJB2

Graphical network of the top 20 diseases related to Erythrokeratodermia Variabilis Et Progressiva 1:



Diseases related to Erythrokeratodermia Variabilis Et Progressiva 1

Symptoms & Phenotypes for Erythrokeratodermia Variabilis Et Progressiva 1

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000982
4 dry skin 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000958
5 erythema 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0010783
6 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
7 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
8 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
9 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
10 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
11 skin plaque 58 31 hallmark (90%) Very frequent (99-80%) HP:0200035
12 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
13 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
14 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
15 alopecia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001596
16 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
17 thin fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0012742
18 patchy palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0005588
19 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
22 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
23 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
24 generalized hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005595
25 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
26 abnormal testis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000035
27 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
28 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
29 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
30 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
31 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
32 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
33 malformation of the heart and great vessels 58 Occasional (29-5%)
34 hyperkeratosis 58 Very frequent (99-80%)
35 irregular hyperpigmentation 58 Frequent (79-30%)
36 macule 58 Very frequent (99-80%)
37 abnormality of the hair 58 Frequent (79-30%)
38 epidermal acanthosis 31 HP:0025092
39 hypergranulosis 31 HP:0025114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
hyperkeratosis, localized
hyperkeratosis, generalized
hyperkeratotic plaques (well demarcated symmetric geographic)
fixed erythematous keratotic plaques
transient erythematous patches
more
Skin Nails Hair Skin Histology:
basket-weave orthohyperkeratosis
dense eosinophilic keratotic band just above granular layer
acanthosis of the epidermis
fingerlike projections of rete ridges
lymphohistiocytic infiltrate in upper dermis, mild

Clinical features from OMIM®:

133200 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.62 GJB1
2 Decreased viability GR00055-A-2 9.62 GJB1
3 Decreased viability GR00240-S-1 9.62 GJA1
4 Decreased viability GR00249-S 9.62 CRYAA GJB1 KDSR TRPM4
5 Decreased viability GR00381-A-1 9.62 GJA3
6 Decreased viability GR00386-A-1 9.62 GJA8 GJB4 GJB5 GJB6 GJC3 KRT83
7 Decreased viability GR00402-S-2 9.62 CRYAA GJA3 GJA4 GJB1 GJB2

Drugs & Therapeutics for Erythrokeratodermia Variabilis Et Progressiva 1

Search Clinical Trials , NIH Clinical Center for Erythrokeratodermia Variabilis Et Progressiva 1

Cochrane evidence based reviews: erythrokeratodermia variabilis

Genetic Tests for Erythrokeratodermia Variabilis Et Progressiva 1

Genetic tests related to Erythrokeratodermia Variabilis Et Progressiva 1:

# Genetic test Affiliating Genes
1 Erythrokeratodermia Variabilis Et Progressiva 1 29 GJB3
2 Erythrokeratodermia Variabilis 29
3 Erythrokeratoderma Variabilis Progressiva 29

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 1

MalaCards organs/tissues related to Erythrokeratodermia Variabilis Et Progressiva 1:

40
Skin, Eye, Testis, Heart, Breast

Publications for Erythrokeratodermia Variabilis Et Progressiva 1

Articles related to Erythrokeratodermia Variabilis Et Progressiva 1:

(show top 50) (show all 116)
# Title Authors PMID Year
1
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. 6 61 54 57
12019212 2002
2
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 61 6 57
10798362 2000
3
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 57 6 61
9843209 1998
4
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 6 57
10594760 1999
5
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. 61 57 54
12648223 2003
6
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. 61 57
19291775 2009
7
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). 61 57
17446259 2007
8
[Familial coexistence of erythrokeratodermia variabilis and keratosis palmoplantaris transgrediens et progrediens]. 57 61
2523877 1989
9
Further evidence for localization of the gene of erythrokeratodermia variabilis. 57 61
3417312 1988
10
Genetic linkage between erythrokeratodermia variabilis and Rh locus. 57 61
6437964 1984
11
Erythrokeratodermia variabilis. Report of three cases and review of the literature. 61 57
4159396 1966
12
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. 57
9326323 1997
13
Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings. 57
1828175 1991
14
Erythrokeratodermia congenitalis progressiva symmetrica (Gottron). II. An analysis of kinetics of epidermal cell proliferation. 57
5112612 1971
15
Congenital ichthyosis with erythema anulare centrifugum. A new form of ichthyosis affecting 12 members of a family of 31 in 5 generations. 57
5413528 1970
16
Fourteen cases of erythro-keratodermia figurata variabilis within one family. 57
13469145 1957
17
[Keratosis extremitatum hereditaria progrediens with genetic dominant]. 57
14945735 1952
18
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. 54 61
18482034 2008
19
Further delineation of the hypotrichosis-deafness syndrome. 54 61
16280295 2005
20
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells. 61 54
16077902 2005
21
Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways. 61 54
15987604 2005
22
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. 54 61
15948974 2005
23
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. 61 54
15086573 2004
24
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. 61 54
15131355 2004
25
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. 61 54
14583444 2003
26
Erythrokeratodermia variabilis. 54 61
14594578 2003
27
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. 54 61
12702148 2003
28
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. 61 54
11309368 2001
29
Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. 54 61
11237463 2001
30
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. 61 54
10790215 2000
31
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes. 61 54
9347797 1997
32
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin. 61
33807656 2021
33
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. 61
33708733 2020
34
Annular epidermolytic ichthyosis: a case report and literature review. 61
32482553 2020
35
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. 61
32311086 2020
36
Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation. 61
31912549 2020
37
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. 61
32211516 2020
38
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome. 61
31465738 2020
39
Erythrokeratodermia variabilis with hypertrichosis on the lesions. 61
31977560 2020
40
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
41
Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva. 61
31793497 2020
42
Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. 61
31599015 2020
43
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. 61
29570224 2019
44
A20 and ABIN1 Suppression of a Keratinocyte Inflammatory Program with a Shared Single-Cell Expression Signature in Diverse Human Rashes. 61
30543901 2019
45
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva. 61
30924322 2019
46
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. 61
30467204 2019
47
Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. 61
29992552 2019
48
A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive. 61
30628963 2019
49
Connexin43 mutations linked to skin disease have augmented hemichannel activity. 61
30631135 2019
50
A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. 61
30152556 2018

Variations for Erythrokeratodermia Variabilis Et Progressiva 1

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 1:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB3 NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) SNV Pathogenic 6482 rs74315315 GRCh37: 1:35250397-35250397
GRCh38: 1:34784796-34784796
2 GJB3 NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) SNV Pathogenic 6483 rs74315316 GRCh37: 1:35250398-35250398
GRCh38: 1:34784797-34784797
3 GJB3 NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) SNV Pathogenic 6484 rs74315317 GRCh37: 1:35250619-35250619
GRCh38: 1:34785018-34785018
4 GJB3 NM_024009.3(GJB3):c.125G>C (p.Arg42Pro) SNV Pathogenic 6489 rs74315321 GRCh37: 1:35250488-35250488
GRCh38: 1:34784887-34784887
5 GJB3 NM_024009.3(GJB3):c.101T>C (p.Leu34Pro) SNV Pathogenic 6491 rs28937583 GRCh37: 1:35250464-35250464
GRCh38: 1:34784863-34784863
6 GJB4 NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) SNV Likely pathogenic 522773 rs148182439 GRCh37: 1:35227241-35227241
GRCh38: 1:34761640-34761640
7 GJB3 NM_024009.3(GJB3):c.499G>A (p.Val167Met) SNV Uncertain significance 289016 rs376748531 GRCh37: 1:35250862-35250862
GRCh38: 1:34785261-34785261
8 GJB3 NM_024009.3(GJB3):c.-480G>C SNV Uncertain significance 873890 GRCh37: 1:35246925-35246925
GRCh38: 1:34781324-34781324
9 GJB3 NM_024009.3(GJB3):c.-477T>C SNV Uncertain significance 873891 GRCh37: 1:35246928-35246928
GRCh38: 1:34781327-34781327
10 GJB3 NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) SNV Uncertain significance 297193 rs756737667 GRCh37: 1:35250854-35250854
GRCh38: 1:34785253-34785253
11 GJB3 NM_024009.3(GJB3):c.*120C>T SNV Uncertain significance 297199 rs1057515479 GRCh37: 1:35251296-35251296
GRCh38: 1:34785695-34785695
12 GJB3 NM_024009.3(GJB3):c.347T>G (p.Leu116Arg) SNV Uncertain significance 873946 GRCh37: 1:35250710-35250710
GRCh38: 1:34785109-34785109
13 GJB3 NM_024009.3(GJB3):c.*429G>A SNV Uncertain significance 297205 rs545843697 GRCh37: 1:35251605-35251605
GRCh38: 1:34786004-34786004
14 GJB3 NM_024009.2(GJB3):c.-606T>C SNV Uncertain significance 297178 rs538085084 GRCh37: 1:35246799-35246799
GRCh38: 1:34781198-34781198
15 GJB3 NM_024009.3(GJB3):c.379C>T (p.Leu127=) SNV Uncertain significance 873947 GRCh37: 1:35250742-35250742
GRCh38: 1:34785141-34785141
16 GJB3 NM_024009.3(GJB3):c.*670C>A SNV Uncertain significance 874009 GRCh37: 1:35251846-35251846
GRCh38: 1:34786245-34786245
17 GJB3 NM_024009.3(GJB3):c.-293C>G SNV Uncertain significance 874839 GRCh37: 1:35247112-35247112
GRCh38: 1:34781511-34781511
18 GJB3 NM_024009.3(GJB3):c.-285C>A SNV Uncertain significance 874840 GRCh37: 1:35247120-35247120
GRCh38: 1:34781519-34781519
19 GJB3 NM_024009.3(GJB3):c.-150C>T SNV Uncertain significance 874841 GRCh37: 1:35247255-35247255
GRCh38: 1:34781654-34781654
20 GJB3 NM_024009.3(GJB3):c.-70C>T SNV Uncertain significance 875773 GRCh37: 1:35247335-35247335
GRCh38: 1:34781734-34781734
21 GJB3 NM_024009.3(GJB3):c.*172G>A SNV Uncertain significance 875827 GRCh37: 1:35251348-35251348
GRCh38: 1:34785747-34785747
22 GJB3 NM_024009.3(GJB3):c.126C>T (p.Arg42=) SNV Uncertain significance 876774 GRCh37: 1:35250489-35250489
GRCh38: 1:34784888-34784888
23 GJB3 NM_024009.3(GJB3):c.249C>T (p.Phe83=) SNV Uncertain significance 876776 GRCh37: 1:35250612-35250612
GRCh38: 1:34785011-34785011
24 GJB3 NM_024009.3(GJB3):c.*370C>A SNV Uncertain significance 876818 GRCh37: 1:35251546-35251546
GRCh38: 1:34785945-34785945
25 GJB3 NM_024009.3(GJB3):c.*481C>T SNV Uncertain significance 876819 GRCh37: 1:35251657-35251657
GRCh38: 1:34786056-34786056
26 GJB3 NM_024009.3(GJB3):c.79G>A (p.Val27Met) SNV Uncertain significance 930512 GRCh37: 1:35250442-35250442
GRCh38: 1:34784841-34784841
27 GJB3 NM_024009.3(GJB3):c.*80G>C SNV Uncertain significance 297198 rs779242382 GRCh37: 1:35251256-35251256
GRCh38: 1:34785655-34785655
28 GJB3 NM_024009.3(GJB3):c.*532del Deletion Uncertain significance 297208 rs935438706 GRCh37: 1:35251707-35251707
GRCh38: 1:34786106-34786106
29 GJB3 NM_024009.3(GJB3):c.-93C>T SNV Uncertain significance 297188 rs1057515515 GRCh37: 1:35247312-35247312
GRCh38: 1:34781711-34781711
30 GJB3 NM_024009.3(GJB3):c.-398C>G SNV Uncertain significance 297181 rs1057515443 GRCh37: 1:35247007-35247007
GRCh38: 1:34781406-34781406
31 GJB3 NM_024009.3(GJB3):c.-307T>C SNV Uncertain significance 297183 rs764352147 GRCh37: 1:35247098-35247098
GRCh38: 1:34781497-34781497
32 GJB3 NM_024009.3(GJB3):c.*191C>T SNV Uncertain significance 297200 rs541330173 GRCh37: 1:35251367-35251367
GRCh38: 1:34785766-34785766
33 GJB3 NM_024009.3(GJB3):c.-159T>C SNV Uncertain significance 297186 rs987840683 GRCh37: 1:35247246-35247246
GRCh38: 1:34781645-34781645
34 GJB3 NM_024009.3(GJB3):c.-231G>A SNV Uncertain significance 297184 rs1057515551 GRCh37: 1:35247174-35247174
GRCh38: 1:34781573-34781573
35 GJB3 NM_024009.3(GJB3):c.*75del Deletion Uncertain significance 297197 rs1057515478 GRCh37: 1:35251251-35251251
GRCh38: 1:34785650-34785650
36 GJB3 NM_024009.3(GJB3):c.-399G>A SNV Uncertain significance 297180 rs141275770 GRCh37: 1:35247006-35247006
GRCh38: 1:34781405-34781405
37 GJB3 NM_024009.3(GJB3):c.*541G>A SNV Uncertain significance 297209 rs1057515516 GRCh37: 1:35251717-35251717
GRCh38: 1:34786116-34786116
38 GJB3 NM_024009.3(GJB3):c.*306C>T SNV Uncertain significance 297203 rs1015503523 GRCh37: 1:35251482-35251482
GRCh38: 1:34785881-34785881
39 GJB3 NM_024009.3(GJB3):c.-177G>A SNV Uncertain significance 297185 rs1057515477 GRCh37: 1:35247228-35247228
GRCh38: 1:34781627-34781627
40 GJB3 NM_024009.3(GJB3):c.-383G>A SNV Uncertain significance 297182 rs1057515476 GRCh37: 1:35247022-35247022
GRCh38: 1:34781421-34781421
41 GJB3 NM_024009.3(GJB3):c.*231G>A SNV Likely benign 297202 rs72898302 GRCh37: 1:35251407-35251407
GRCh38: 1:34785806-34785806
42 GJB3 NM_024009.3(GJB3):c.660G>A (p.Lys220=) SNV Likely benign 297194 rs777765331 GRCh37: 1:35251023-35251023
GRCh38: 1:34785422-34785422
43 GJB3 NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) SNV Likely benign 297191 rs370476720 GRCh37: 1:35250586-35250586
GRCh38: 1:34784985-34784985
44 GJB3 NM_024009.3(GJB3):c.264G>A (p.Ser88=) SNV Likely benign 297192 rs201469743 GRCh37: 1:35250627-35250627
GRCh38: 1:34785026-34785026
45 GJB3 NM_024009.3(GJB3):c.293G>A (p.Arg98His) SNV Likely benign 179376 rs201314683 GRCh37: 1:35250656-35250656
GRCh38: 1:34785055-34785055
46 GJB3 NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) SNV Likely benign 178352 rs80297119 GRCh37: 1:35250892-35250892
GRCh38: 1:34785291-34785291
47 GJB3 NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) SNV Likely benign 6485 rs74315318 GRCh37: 1:35250910-35250910
GRCh38: 1:34785309-34785309
48 GJB3 NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) SNV Likely benign 6493 rs117385606 GRCh37: 1:35250943-35250943
GRCh38: 1:34785342-34785342
49 GJB3 NM_024009.3(GJB3):c.-18C>T SNV Likely benign 297189 rs371413520 GRCh37: 1:35250346-35250346
GRCh38: 1:34784745-34784745
50 GJB3 NM_024009.3(GJB3):c.165C>T (p.Thr55=) SNV Likely benign 297190 rs779347602 GRCh37: 1:35250528-35250528
GRCh38: 1:34784927-34784927

UniProtKB/Swiss-Prot genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 1:

72
# Symbol AA change Variation ID SNP ID
1 GJB3 p.Gly12Asp VAR_002147 rs74315316
2 GJB3 p.Gly12Arg VAR_002148 rs74315315
3 GJB3 p.Cys86Ser VAR_002149 rs74315317
4 GJB3 p.Arg42Pro VAR_015085 rs74315321
5 GJB3 p.Phe137Leu VAR_015086

Expression for Erythrokeratodermia Variabilis Et Progressiva 1

Search GEO for disease gene expression data for Erythrokeratodermia Variabilis Et Progressiva 1.

Pathways for Erythrokeratodermia Variabilis Et Progressiva 1

GO Terms for Erythrokeratodermia Variabilis Et Progressiva 1

Cellular components related to Erythrokeratodermia Variabilis Et Progressiva 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.21 TRPM4 KDSR GJC3 GJB6 GJB5 GJB4
2 membrane GO:0016020 10.19 TRPM4 OSBPL3 KRT1 KDSR GJC3 GJB6
3 plasma membrane GO:0005886 10.17 TRPM4 OSBPL3 KRT1 GJC3 GJB6 GJB5
4 integral component of plasma membrane GO:0005887 9.95 TRPM4 GJB4 GJB2 GJA8 GJA4 GJA3
5 cell junction GO:0030054 9.9 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2
6 connexin complex GO:0005922 9.7 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2
7 gap junction GO:0005921 9.36 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2

Biological processes related to Erythrokeratodermia Variabilis Et Progressiva 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 TRPM4 GJC3 GJB6 GJB5 GJB4 GJB3
2 cell-cell signaling GO:0007267 9.7 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2
3 gap junction assembly GO:0016264 9.67 GJB6 GJB2 GJB1 GJA1
4 gap junction-mediated intercellular transport GO:1990349 9.65 GJB6 GJB4 GJB2 GJA8 GJA3
5 cornification GO:0070268 9.63 LORICRIN KRT83 KRT1
6 epididymis development GO:1905867 9.62 GJB5 GJB2 GJB1 GJA1
7 cell communication by electrical coupling GO:0010644 9.58 GJB6 GJB2 GJA1
8 endothelium development GO:0003158 9.43 GJA4 GJA1
9 cell communication GO:0007154 9.36 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2

Molecular functions related to Erythrokeratodermia Variabilis Et Progressiva 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 9.36 GJC3 GJB6 GJB5 GJB4 GJB3 GJB2
2 structural constituent of epidermis GO:0030280 9.26 LORICRIN KRT1
3 gap junction hemi-channel activity GO:0055077 9.16 GJA3 GJA1
4 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJB6 GJB2 GJA1

Sources for Erythrokeratodermia Variabilis Et Progressiva 1

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
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