EKVP1
MCID: ERY053
MIFTS: 53

Erythrokeratodermia Variabilis Et Progressiva 1 (EKVP1)

Categories: Eye diseases, Genetic diseases, Rare 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 75
Erythrokeratodermia Variabilis 57 12 53 25 59 75 37 29 55 6 44 15 73
Erythrokeratodermia Variabilis Et Progressiva 57 53 25 75 13 40
Ekv 57 53 25 59 75
Greither Disease 12 59 75 73
Ekvp 57 53 25 75
Erythrokeratodermia, Progressive Symmetric 57 53 25
Psek 57 53 75
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 57 75
Keratosis Palmoplantaris Transgrediens Et Progrediens 59 75
Transgrediens Et Progrediens Palmoplantar Keratoderma 59 75
Erythrokeratodermia Variabilis, Mendes Da Costa Type 53 59
Progressive Symmetric Erythrokeratodermia 53 75
Ekvp1 57 75
Erythrokeratodermia Figurata, Congenital Familial, in Plaques 57
Congenital Familial Erythrokeratodermia Figurata in Plaques 75
Progressive Symmetrical Erythrokeratoderma of Gottron 25
Erythrokeratodermia Variabilis Et Progressiva; Ekvp 57
Erythrokeratodermia Variabilis Mendes Da Costa Type 75
Erythrokeratodermia Variabilis of Mendes Da Costa 25
Erythrokeratodermia, Progressive Symmetric; Psek 57
Keratosis Extremitatum Hereditaria Progrediens 59
Progressive Diffuse Palmoplantar Keratoderma 59
Progressiva Symmetrica Erythrokeratodermia 53
Erythrokeratodermia Progressive Symmetric 75
Keratoderma Palmoplantaris Transgrediens 73
Erythrokeratodermia Figurata Variabilis 12
Erythrokeratodermia Variabilis; Ekv 57
Transgrediens Et Progrediens Ppk 59
Progressive Diffuse Ppk 59
Darier-Gottron Disease 53
Ekv-P 25

Characteristics:

Orphanet epidemiological data:

59
erythrokeratodermia variabilis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (rare)

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 )


HPO:

32
erythrokeratodermia variabilis et progressiva 1:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Erythrokeratodermia Variabilis Et Progressiva 1

NIH Rare Diseases : 53 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.  

MalaCards based summary : Erythrokeratodermia Variabilis Et Progressiva 1, also known as erythrokeratodermia variabilis, is related to erythrokeratodermia variabilis et progressiva 5 and mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. 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 G-Beta Gamma Signaling. Affiliated tissues include skin, heart and eye, and related phenotypes are diabetes mellitus and hyperhidrosis

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.

Genetics Home Reference : 25 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.

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 5 34.6 KDSR LOR
2 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 32.7 GJB2 GJB3 GJB4
3 oculodentodigital dysplasia 30.4 GJA1 GJB2 GJB4 LOR
4 palmoplantar keratosis 30.0 GJB2 GJB3 LOR
5 skin disease 29.8 GJA1 GJB2 GJB3 GJB4 GJB6 LOR
6 pseudoainhum 29.3 GJA1 GJB2 GJB3 GJB4 GJB6 LOR
7 papillon-lefevre syndrome 11.6
8 spinocerebellar ataxia 34 11.3
9 ichthyosis hystrix, curth-macklin type 11.3
10 rothmund-thomson syndrome 11.3
11 keratoderma palmoplantaris transgrediens 11.3
12 erythrokeratodermia variabilis et progressiva 2 11.1
13 erythrokeratodermia variabilis et progressiva 3 11.1
14 erythrokeratodermia variabilis et progressiva 4 11.1
15 nevus, epidermal 10.4
16 inflammatory linear verrucous epidermal nevus 10.4
17 breast cancer 10.2
18 takayasu arteritis 10.2
19 deafness, autosomal recessive 93 10.1 GJB2 GJB3
20 deafness, autosomal dominant 3a 10.1 GJB2 GJB4
21 deafness, autosomal recessive 28 10.1 GJB2 GJB3
22 anodontia 10.1
23 pelizaeus-merzbacher-like disease 10.1 GJA1 GJB1
24 deafness, autosomal recessive 67 10.1 GJB2 GJB3
25 drug-induced hearing loss 10.1 GJB2 GJB3
26 x-linked charcot-marie-tooth disease 10.0 GJB1 GJB2
27 hypotrichosis-deafness syndrome 10.0 GJB2 GJB3 GJB4
28 hallermann-streiff syndrome 10.0 GJA1 GJB1
29 ainhum 10.0 GJA1 GJB2 LOR
30 deafness, autosomal dominant 24 9.9 GJB2 GJB6
31 deafness, x-linked 2 9.9 GJB2 GJB6
32 dfnb1 9.9 GJB2 GJB6
33 deafness, autosomal recessive 23 9.9 GJB2 GJB6
34 congenital cytomegalovirus 9.9 GJB2 GJB6
35 autosomal dominant nonsyndromic deafness 9.9 GJB2 GJB3
36 deafness, autosomal dominant 2a 9.9 GJB2 GJB6
37 deafness, autosomal recessive 16 9.9 GJB2 GJB6
38 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB3 GJB6
39 vestibular disease 9.8 GJB2 GJB3 GJB6
40 ichthyosis 9.8 ELOVL4 GJB2 LOR
41 inner ear disease 9.8 GJB2 GJB3 GJB6
42 auditory system disease 9.8 GJB2 GJB3 GJB6
43 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB2 GJB3 GJB6
44 keratitis, hereditary 9.8 GJB2 GJB6
45 sensorineural hearing loss 9.8 GJB2 GJB3 GJB6
46 corneal disease 9.8 GJB2 GJB6
47 vohwinkel syndrome 9.8 GJB2 GJB6 LOR
48 kid syndrome 9.7 GJB2 GJB3 GJB4 GJB6
49 deafness, autosomal recessive 1a 9.7 GJB2 GJB3 GJB4 GJB6
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJA1 GJB2 GJB3 GJB6

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
7 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
8 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 abnormality of the nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001597
11 generalized hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005595
12 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
13 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
14 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
15 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
16 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
17 dry skin 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000958
18 alopecia 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001596
19 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
20 thin fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0012742
21 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
22 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
23 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
24 neoplasm of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008069
25 erythema 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0010783
26 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
27 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
28 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
29 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
30 patchy palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0005588
31 hyperkeratosis 59 Very frequent (99-80%)
32 malformation of the heart and great vessels 59 Occasional (29-5%)
33 irregular hyperpigmentation 59 Frequent (79-30%)
34 macule 59 Very frequent (99-80%)
35 abnormality of the hair 59 Frequent (79-30%)
36 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
37 skin plaque 32 hallmark (90%) HP:0200035
38 epidermal acanthosis 32 HP:0025092
39 hypergranulosis 32 HP:0025114

MGI Mouse Phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.02 ELOVL4 GJA1 GJB2 GJB3 GJB6

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 29 GJB3

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 1

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

41
Skin, Heart, Eye, Testis, Breast

Publications for Erythrokeratodermia Variabilis Et Progressiva 1

Articles related to Erythrokeratodermia Variabilis Et Progressiva 1:

(show top 50) (show all 62)
# Title Authors Year
1
Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. ( 29992552 )
2018
2
Erythrokeratodermia variabilis et progressiva. ( 26945536 )
2016
3
Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. ( 27890787 )
2016
4
Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family? ( 26826093 )
2016
5
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. ( 25964267 )
2015
6
Case of erythrokeratodermia variabilis successfully treated with oral vitamin A. ( 26283448 )
2015
7
A sporadic elder case of erythrokeratodermia variabilis with a single base-pair transversion in GJB3 gene successfully treated with systemic vitamin A derivative. ( 25297803 )
2014
8
Radiotherapy for breast cancer and erythrokeratodermia variabilis. ( 25306447 )
2014
9
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2014
10
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. ( 25556823 )
2014
11
Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis. ( 24754264 )
2014
12
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. ( 23037955 )
2013
13
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. ( 23442023 )
2013
14
Erythrokeratodermia variabilis: Two case reports. ( 24350021 )
2013
15
A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L). ( 21913904 )
2012
16
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. ( 22681493 )
2012
17
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. ( 22266302 )
2012
18
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. ( 21950330 )
2012
19
Erythrokeratodermia variabilis: successful treatment with retinoid plus psoralen and ultraviolet A therapy. ( 21352304 )
2011
20
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. ( 21879244 )
2011
21
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. ( 20497287 )
2011
22
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? ( 20526545 )
2010
23
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. ( 19291775 )
2009
24
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. ( 18482034 )
2008
25
Erythrokeratodermia variabilis: successful palliative treatment with acitretin. ( 19171995 )
2008
26
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). ( 17446259 )
2007
27
Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex DuprAc erythema. ( 18060199 )
2007
28
Erythrokeratodermia variabilis with adult onset: report of a sporadic case unresponsive to systemic retinoids. ( 16854764 )
2006
29
Coexistent Takayasu arteritis and erythrokeratodermia variabilis: a case report. ( 16635177 )
2006
30
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. ( 15948974 )
2005
31
[Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins]. ( 16372802 )
2005
32
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. ( 15668823 )
2005
33
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. ( 15086573 )
2004
34
Case study: erythrokeratodermia variabilis. ( 15249788 )
2004
35
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. ( 12648223 )
2003
36
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. ( 14583444 )
2003
37
Erythrokeratodermia variabilis. ( 14594578 )
2003
38
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. ( 12220269 )
2002
39
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. ( 12176042 )
2002
40
Acitretin for erythrokeratodermia variabilis in a 9-year-old girl. ( 12437552 )
2002
41
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. ( 12019212 )
2002
42
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. ( 11017804 )
2000
43
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. ( 9843209 )
1998
44
Erythrokeratodermia variabilis present at birth: case report and review of the literature. ( 8747585 )
1995
45
Acitretin in the treatment of erythrokeratodermia variabilis. ( 2150049 )
1990
46
Further evidence for localization of the gene of erythrokeratodermia variabilis. ( 3417312 )
1988
47
A child with erythematous and hyperkeratotic patches. Erythrokeratodermia variabilis. ( 2969702 )
1988
48
Erythrokeratodermia variabilis: immunohistochemical and ultrastructural studies of the epidermis. ( 2445144 )
1987
49
Erythrokeratodermia variabilis. ( 3466575 )
1986
50
Erythrokeratodermia variabilis treated with isotretinoin. A clinical, histologic, and ultrastructural study. ( 2420287 )
1986

Variations for Erythrokeratodermia Variabilis Et Progressiva 1

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

75
# 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

ClinVar genetic disease variations for Erythrokeratodermia Variabilis Et Progressiva 1:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB3 NM_024009.2(GJB3): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs74315315 GRCh37 Chromosome 1, 35250397: 35250397
2 GJB3 NM_024009.2(GJB3): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs74315315 GRCh38 Chromosome 1, 34784796: 34784796
3 GJB3 NM_024009.2(GJB3): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs74315316 GRCh37 Chromosome 1, 35250398: 35250398
4 GJB3 NM_024009.2(GJB3): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs74315316 GRCh38 Chromosome 1, 34784797: 34784797
5 GJB3 NM_024009.2(GJB3): c.256T> A (p.Cys86Ser) single nucleotide variant Pathogenic rs74315317 GRCh37 Chromosome 1, 35250619: 35250619
6 GJB3 NM_024009.2(GJB3): c.256T> A (p.Cys86Ser) single nucleotide variant Pathogenic rs74315317 GRCh38 Chromosome 1, 34785018: 34785018
7 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh37 Chromosome 1, 35250910: 35250910
8 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh38 Chromosome 1, 34785309: 34785309
9 GJB3 NM_024009.2(GJB3): c.125G> C (p.Arg42Pro) single nucleotide variant Pathogenic rs74315321 GRCh37 Chromosome 1, 35250488: 35250488
10 GJB3 NM_024009.2(GJB3): c.125G> C (p.Arg42Pro) single nucleotide variant Pathogenic rs74315321 GRCh38 Chromosome 1, 34784887: 34784887
11 GJB3 NM_024009.2(GJB3): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic rs28937583 GRCh37 Chromosome 1, 35250464: 35250464
12 GJB3 NM_024009.2(GJB3): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic rs28937583 GRCh38 Chromosome 1, 34784863: 34784863
13 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh37 Chromosome 1, 35250943: 35250943
14 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh38 Chromosome 1, 34785342: 34785342
15 GJB3 NM_024009.2(GJB3): c.*493C> T single nucleotide variant Benign rs13774 GRCh38 Chromosome 1, 34786068: 34786068
16 GJB3 NM_024009.2(GJB3): c.*493C> T single nucleotide variant Benign rs13774 GRCh37 Chromosome 1, 35251669: 35251669
17 GJB3 NM_024009.2(GJB3): c.*626C> G single nucleotide variant Likely benign rs74567877 GRCh38 Chromosome 1, 34786201: 34786201
18 GJB3 NM_024009.2(GJB3): c.*626C> G single nucleotide variant Likely benign rs74567877 GRCh37 Chromosome 1, 35251802: 35251802
19 GJB4 NM_153212.2(GJB4): c.386G> A (p.Trp129Ter) single nucleotide variant Likely pathogenic rs148182439 GRCh37 Chromosome 1, 35227241: 35227241
20 GJB4 NM_153212.2(GJB4): c.386G> A (p.Trp129Ter) single nucleotide variant Likely pathogenic rs148182439 GRCh38 Chromosome 1, 34761640: 34761640
21 GJB3 NM_024009.2(GJB3): c.660G> A (p.Lys220=) single nucleotide variant Uncertain significance rs777765331 GRCh38 Chromosome 1, 34785422: 34785422
22 GJB3 NM_024009.2(GJB3): c.660G> A (p.Lys220=) single nucleotide variant Uncertain significance rs777765331 GRCh37 Chromosome 1, 35251023: 35251023
23 GJB3 NM_024009.2(GJB3): c.491G> A (p.Cys164Tyr) single nucleotide variant Uncertain significance rs756737667 GRCh37 Chromosome 1, 35250854: 35250854
24 GJB3 NM_024009.2(GJB3): c.491G> A (p.Cys164Tyr) single nucleotide variant Uncertain significance rs756737667 GRCh38 Chromosome 1, 34785253: 34785253
25 GJB3 NM_024009.2(GJB3): c.-398C> G single nucleotide variant Uncertain significance rs1057515443 GRCh37 Chromosome 1, 35247007: 35247007
26 GJB3 NM_024009.2(GJB3): c.-398C> G single nucleotide variant Uncertain significance rs1057515443 GRCh38 Chromosome 1, 34781406: 34781406
27 GJB3 NM_024009.2(GJB3): c.567C> T (p.Tyr189=) single nucleotide variant Benign rs61732307 GRCh37 Chromosome 1, 35250930: 35250930
28 GJB3 NM_024009.2(GJB3): c.567C> T (p.Tyr189=) single nucleotide variant Benign rs61732307 GRCh38 Chromosome 1, 34785329: 34785329
29 GJB3 NM_024009.2(GJB3): c.529T> G (p.Tyr177Asp) single nucleotide variant Benign/Likely benign rs80297119 GRCh38 Chromosome 1, 34785291: 34785291
30 GJB3 NM_024009.2(GJB3): c.529T> G (p.Tyr177Asp) single nucleotide variant Benign/Likely benign rs80297119 GRCh37 Chromosome 1, 35250892: 35250892
31 GJB3 NM_024009.2(GJB3): c.477G> A (p.Pro159=) single nucleotide variant Benign rs61732640 GRCh38 Chromosome 1, 34785239: 34785239
32 GJB3 NM_024009.2(GJB3): c.477G> A (p.Pro159=) single nucleotide variant Benign rs61732640 GRCh37 Chromosome 1, 35250840: 35250840
33 GJB3 NM_024009.2(GJB3): c.598G> A (p.Val200Ile) single nucleotide variant Benign rs61734064 GRCh38 Chromosome 1, 34785360: 34785360
34 GJB3 NM_024009.2(GJB3): c.598G> A (p.Val200Ile) single nucleotide variant Benign rs61734064 GRCh37 Chromosome 1, 35250961: 35250961
35 GJB3 NM_024009.2(GJB3): c.479G> A (p.Arg160His) single nucleotide variant Conflicting interpretations of pathogenicity rs200055020 GRCh38 Chromosome 1, 34785241: 34785241
36 GJB3 NM_024009.2(GJB3): c.479G> A (p.Arg160His) single nucleotide variant Conflicting interpretations of pathogenicity rs200055020 GRCh37 Chromosome 1, 35250842: 35250842
37 GJB3 NM_024009.2(GJB3): c.798C> T (p.Asn266=) single nucleotide variant Benign rs35983826 GRCh38 Chromosome 1, 34785560: 34785560
38 GJB3 NM_024009.2(GJB3): c.798C> T (p.Asn266=) single nucleotide variant Benign rs35983826 GRCh37 Chromosome 1, 35251161: 35251161
39 GJB3 NM_024009.2(GJB3): c.579C> T (p.Gly193=) single nucleotide variant Benign/Likely benign rs61744512 GRCh38 Chromosome 1, 34785341: 34785341
40 GJB3 NM_024009.2(GJB3): c.579C> T (p.Gly193=) single nucleotide variant Benign/Likely benign rs61744512 GRCh37 Chromosome 1, 35250942: 35250942
41 GJB3 NM_024009.2(GJB3): c.357C> T (p.Asn119=) single nucleotide variant Benign rs41310442 GRCh38 Chromosome 1, 34785119: 34785119
42 GJB3 NM_024009.2(GJB3): c.357C> T (p.Asn119=) single nucleotide variant Benign rs41310442 GRCh37 Chromosome 1, 35250720: 35250720
43 GJB3 NM_024009.2(GJB3): c.340G> A (p.Ala114Thr) single nucleotide variant Likely benign rs199689484 GRCh38 Chromosome 1, 34785102: 34785102
44 GJB3 NM_024009.2(GJB3): c.340G> A (p.Ala114Thr) single nucleotide variant Likely benign rs199689484 GRCh37 Chromosome 1, 35250703: 35250703
45 GJB3 NM_024009.2(GJB3): c.-18C> T single nucleotide variant Uncertain significance rs371413520 GRCh37 Chromosome 1, 35250346: 35250346
46 GJB3 NM_024009.2(GJB3): c.-18C> T single nucleotide variant Uncertain significance rs371413520 GRCh38 Chromosome 1, 34784745: 34784745
47 GJB3 NM_024009.2(GJB3): c.-93C> T single nucleotide variant Uncertain significance rs1057515515 GRCh37 Chromosome 1, 35247312: 35247312
48 GJB3 NM_024009.2(GJB3): c.-93C> T single nucleotide variant Uncertain significance rs1057515515 GRCh38 Chromosome 1, 34781711: 34781711
49 GJB3 NM_024009.2(GJB3): c.-141C> G single nucleotide variant Benign rs113824402 GRCh37 Chromosome 1, 35247264: 35247264
50 GJB3 NM_024009.2(GJB3): c.-141C> G single nucleotide variant Benign rs113824402 GRCh38 Chromosome 1, 34781663: 34781663

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
2
Show member pathways
12.57 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
3
Show member pathways
12.21 GJA1 GJA4 GJB1 GJB2 GJB3
4
Show member pathways
11.99 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
5
Show member pathways
11.16 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
6 10.91 GJA1 GJA4
7
Show member pathways
10.39 GJA1 GJB1 GJB2

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 9.97 ELOVL4 GJA1 GJA4 GJB1 GJB2 GJB3
2 endoplasmic reticulum membrane GO:0005789 9.71 ELOVL4 GJA1 GJB1 KDSR
3 cell junction GO:0030054 9.7 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
4 connexin complex GO:0005922 9.5 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
5 lateral plasma membrane GO:0016328 9.43 GJA1 GJB1 GJB2
6 gap junction GO:0005921 9.17 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
7 membrane GO:0016020 10.02 ELOVL4 GJA1 GJA4 GJB1 GJB2 GJB3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 GJA1 GJB1 GJB2 GJB3
2 cell-cell signaling GO:0007267 9.56 GJA1 GJA4 GJB1 GJB2
3 response to lipopolysaccharide GO:0032496 9.54 GJA1 GJB2 GJB6
4 inner ear development GO:0048839 9.51 GJB2 GJB6
5 sphingolipid biosynthetic process GO:0030148 9.49 ELOVL4 KDSR
6 response to retinoic acid GO:0032526 9.48 GJA1 GJB2
7 response to ischemia GO:0002931 9.46 GJA1 GJB2
8 decidualization GO:0046697 9.4 GJA1 GJB2
9 gap junction assembly GO:0016264 9.33 GJA1 GJB1 GJB2
10 endothelium development GO:0003158 9.32 GJA1 GJA4
11 cell communication GO:0007154 9.17 GJA1 GJA4 GJB1 GJB2 GJB3 GJB4
12 epididymis development GO:1905867 9.13 GJA1 GJB1 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 8.92 GJA1 GJB1 GJB2 GJB3

Sources for Erythrokeratodermia Variabilis Et Progressiva 1

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
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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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