PSEK
MCID: ERY053
MIFTS: 51

Erythrokeratodermia Variabilis Et Progressiva 1 (PSEK)

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 58 76
Erythrokeratodermia Variabilis 58 12 54 26 60 76 38 30 56 6 45 15 74
Erythrokeratodermia Variabilis Et Progressiva 58 54 26 76 13 41
Ekv 58 54 26 60 76
Greither Disease 12 60 76 74
Ekvp 58 54 26 76
Erythrokeratodermia, Progressive Symmetric 58 54 26
Psek 58 54 76
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 58 76
Keratosis Palmoplantaris Transgrediens Et Progrediens 60 76
Transgrediens Et Progrediens Palmoplantar Keratoderma 60 76
Erythrokeratodermia Variabilis, Mendes Da Costa Type 54 60
Progressive Symmetric Erythrokeratodermia 54 76
Ekvp1 58 76
Erythrokeratodermia Figurata, Congenital Familial, in Plaques 58
Congenital Familial Erythrokeratodermia Figurata in Plaques 76
Progressive Symmetrical Erythrokeratoderma of Gottron 26
Erythrokeratodermia Variabilis Et Progressiva; Ekvp 58
Erythrokeratodermia Variabilis Mendes Da Costa Type 76
Erythrokeratodermia Variabilis of Mendes Da Costa 26
Erythrokeratodermia, Progressive Symmetric; Psek 58
Keratosis Extremitatum Hereditaria Progrediens 60
Progressive Diffuse Palmoplantar Keratoderma 60
Progressiva Symmetrica Erythrokeratodermia 54
Erythrokeratodermia Progressive Symmetric 76
Keratoderma Palmoplantaris Transgrediens 74
Erythrokeratodermia Figurata Variabilis 12
Erythrokeratodermia Variabilis; Ekv 58
Transgrediens Et Progrediens Ppk 60
Progressive Diffuse Ppk 60
Darier-Gottron Disease 54
Ekv-P 26

Characteristics:

Orphanet epidemiological data:

60
erythrokeratodermia variabilis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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:

33
erythrokeratodermia variabilis et progressiva 1:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Erythrokeratodermia Variabilis Et Progressiva 1

NIH Rare Diseases : 54 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, testis and breast, 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.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 55)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 5 34.4 KDSR LOR
2 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 32.8 GJB2 GJB3 GJB4
3 oculodentodigital dysplasia 30.0 GJA1 GJB2 GJB4 LOR
4 palmoplantar keratosis 29.8 GJB2 GJB3 LOR
5 skin disease 29.4 GJA1 GJB2 GJB3 GJB4 GJB6 LOR
6 pseudoainhum 28.8 GJA1 GJB2 GJB3 GJB4 GJB6 LOR
7 papillon-lefevre syndrome 11.6
8 spinocerebellar ataxia 34 11.4
9 ichthyosis hystrix, curth-macklin type 11.4
10 rothmund-thomson syndrome 11.4
11 keratoderma palmoplantaris transgrediens 11.4
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 10.3
18 takayasu arteritis 10.3
19 deafness, autosomal recessive 93 10.2 GJB2 GJB3
20 deafness, autosomal dominant 3a 10.2 GJB2 GJB4
21 deafness, autosomal recessive 28 10.2 GJB2 GJB3
22 al-raqad syndrome 10.1
23 anodontia 10.1
24 pelizaeus-merzbacher-like disease 10.1 GJA1 GJB1
25 papilloma 10.1
26 deafness, autosomal dominant 24 10.1 GJB2 GJB6
27 deafness, autosomal recessive 67 10.1 GJB2 GJB3
28 x-linked charcot-marie-tooth disease 10.1 GJB1 GJB2
29 hypotrichosis-deafness syndrome 10.1 GJB2 GJB3 GJB4
30 drug-induced hearing loss 10.1 GJB2 GJB3
31 deafness, x-linked 2 10.0 GJB2 GJB6
32 dfnb1 10.0 GJB2 GJB6
33 deafness, autosomal recessive 23 10.0 GJB2 GJB6
34 congenital cytomegalovirus 10.0 GJB2 GJB6
35 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
36 deafness, autosomal recessive 16 10.0 GJB2 GJB6
37 hallermann-streiff syndrome 9.9 GJA1 GJB1
38 hodgkin's lymphoma, nodular sclerosis 9.9 GJB2 GJB3 GJB6
39 vestibular disease 9.9 GJB2 GJB3 GJB6
40 inner ear disease 9.9 GJB2 GJB3 GJB6
41 auditory system disease 9.9 GJB2 GJB3 GJB6
42 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 GJB2 GJB3 GJB6
43 keratitis, hereditary 9.8 GJB2 GJB6
44 sensorineural hearing loss 9.8 GJB2 GJB3 GJB6
45 kid syndrome 9.8 GJB2 GJB3 GJB4 GJB6
46 deafness, autosomal recessive 1a 9.8 GJB2 GJB3 GJB4 GJB6
47 ainhum 9.8 GJA1 GJB2 LOR
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJA1 GJB2 GJB3 GJB6
49 knuckle pads, leukonychia, and sensorineural deafness 9.7 GJA1 GJB2 GJB4 GJB6
50 nonsyndromic deafness 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

Human phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
3 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
4 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
5 weight loss 60 33 hallmark (90%) Very frequent (99-80%) HP:0001824
6 dry skin 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000958
7 erythema 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0010783
8 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
9 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
10 hypermelanotic macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001034
11 skin plaque 33 hallmark (90%) HP:0200035
12 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
13 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
14 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
15 alopecia 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001596
16 thin fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0012742
17 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
18 patchy palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0005588
19 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
20 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
21 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
22 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
23 abnormality of the nail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001597
24 generalized hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005595
25 corneal dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001131
26 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
27 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
28 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
29 neoplasm of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008069
30 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182
31 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
32 abnormal testis morphology 33 occasional (7.5%) HP:0000035
33 hyperkeratosis 60 Very frequent (99-80%)
34 malformation of the heart and great vessels 60 Occasional (29-5%)
35 abnormality of the testis 60 Occasional (29-5%)
36 irregular hyperpigmentation 60 Frequent (79-30%)
37 macule 60 Very frequent (99-80%)
38 abnormality of the hair 60 Frequent (79-30%)
39 epidermal acanthosis 33 HP:0025092
40 hypergranulosis 33 HP:0025114

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Erythrokeratodermia Variabilis Et Progressiva 1:

47
# 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 30 GJB3

Anatomical Context for Erythrokeratodermia Variabilis Et Progressiva 1

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

42
Skin, Testis, Breast, Heart, Eye

Publications for Erythrokeratodermia Variabilis Et Progressiva 1

Articles related to Erythrokeratodermia Variabilis Et Progressiva 1:

(show top 50) (show all 66)
# Title Authors Year
1
Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. ( 29992552 )
2019
2
A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive. ( 30628963 )
2019
3
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva. ( 30924322 )
2019
4
Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva. ( 27890787 )
2017
5
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
6
Erythrokeratodermia variabilis et progressiva. ( 26945536 )
2016
7
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2015
8
The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. ( 25556823 )
2015
9
Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. ( 25964267 )
2015
10
Case of erythrokeratodermia variabilis successfully treated with oral vitamin A. ( 26283448 )
2015
11
Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis. ( 24754264 )
2014
12
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
13
Radiotherapy for breast cancer and erythrokeratodermia variabilis. ( 25306447 )
2014
14
Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. ( 23037955 )
2013
15
Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. ( 23442023 )
2013
16
Erythrokeratodermia variabilis: Two case reports. ( 24350021 )
2013
17
A case of erythrokeratodermia variabilis with connexin 31 gene mutation (Cx31F137L). ( 21913904 )
2012
18
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. ( 21950330 )
2012
19
Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. ( 22266302 )
2012
20
A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. ( 22681493 )
2012
21
A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. ( 20497287 )
2011
22
Erythrokeratodermia variabilis: successful treatment with retinoid plus psoralen and ultraviolet A therapy. ( 21352304 )
2011
23
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. ( 21879244 )
2011
24
Familial erythrokeratodermia variabilis with pustular lesions: a new variant? ( 20526545 )
2010
25
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. ( 19291775 )
2009
26
Erythrokeratodermia variabilis: successful palliative treatment with acitretin. ( 19171995 )
2008
27
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. ( 18482034 )
2008
28
Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema. ( 18060199 )
2007
29
The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV). ( 17446259 )
2007
30
Erythrokeratodermia variabilis with adult onset: report of a sporadic case unresponsive to systemic retinoids. ( 16854764 )
2006
31
Coexistent Takayasu arteritis and erythrokeratodermia variabilis: a case report. ( 16635177 )
2006
32
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. ( 15948974 )
2005
33
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. ( 15668823 )
2005
34
[Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins]. ( 16372802 )
2005
35
Case study: erythrokeratodermia variabilis. ( 15249788 )
2004
36
A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis. ( 15086573 )
2004
37
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. ( 12648223 )
2003
38
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. ( 14583444 )
2003
39
Erythrokeratodermia variabilis. ( 14594578 )
2003
40
A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. ( 12019212 )
2002
41
Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. ( 12176042 )
2002
42
Erythrokeratodermia variabilis with erythema gyratum repens-like lesions. ( 12220269 )
2002
43
Acitretin for erythrokeratodermia variabilis in a 9-year-old girl. ( 12437552 )
2002
44
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. ( 11017804 )
2000
45
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. ( 10798362 )
2000
46
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. ( 10594760 )
1999
47
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. ( 9843209 )
1998
48
Erythrokeratodermia variabilis present at birth: case report and review of the literature. ( 8747585 )
1995
49
Acitretin in the treatment of erythrokeratodermia variabilis. ( 2150049 )
1990
50
A child with erythematous and hyperkeratotic patches. Erythrokeratodermia variabilis. ( 2969702 )
1988

Variations for Erythrokeratodermia Variabilis Et Progressiva 1

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

76
# 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 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB3 NM_024009.2(GJB3): c.479G> A (p.Arg160His) single nucleotide variant Conflicting interpretations of pathogenicity rs200055020 GRCh38 Chromosome 1, 34785241: 34785241
2 GJB3 NM_024009.2(GJB3): c.479G> A (p.Arg160His) single nucleotide variant Conflicting interpretations of pathogenicity rs200055020 GRCh37 Chromosome 1, 35250842: 35250842
3 GJB3 NM_024009.2(GJB3): c.598G> A (p.Val200Ile) single nucleotide variant Benign rs61734064 GRCh37 Chromosome 1, 35250961: 35250961
4 GJB3 NM_024009.2(GJB3): c.598G> A (p.Val200Ile) single nucleotide variant Benign rs61734064 GRCh38 Chromosome 1, 34785360: 34785360
5 GJB3 NM_024009.2(GJB3): c.477G> A (p.Pro159=) single nucleotide variant Benign rs61732640 GRCh37 Chromosome 1, 35250840: 35250840
6 GJB3 NM_024009.2(GJB3): c.477G> A (p.Pro159=) single nucleotide variant Benign rs61732640 GRCh38 Chromosome 1, 34785239: 34785239
7 GJB3 NM_024009.2(GJB3): c.529T> G (p.Tyr177Asp) single nucleotide variant Benign/Likely benign rs80297119 GRCh38 Chromosome 1, 34785291: 34785291
8 GJB3 NM_024009.2(GJB3): c.529T> G (p.Tyr177Asp) single nucleotide variant Benign/Likely benign rs80297119 GRCh37 Chromosome 1, 35250892: 35250892
9 GJB3 NM_024009.2(GJB3): c.567C> T (p.Tyr189=) single nucleotide variant Benign rs61732307 GRCh38 Chromosome 1, 34785329: 34785329
10 GJB3 NM_024009.2(GJB3): c.567C> T (p.Tyr189=) single nucleotide variant Benign rs61732307 GRCh37 Chromosome 1, 35250930: 35250930
11 GJB3 NM_024009.2(GJB3): c.499G> A (p.Val167Met) single nucleotide variant Uncertain significance rs376748531 GRCh37 Chromosome 1, 35250862: 35250862
12 GJB3 NM_024009.2(GJB3): c.499G> A (p.Val167Met) single nucleotide variant Uncertain significance rs376748531 GRCh38 Chromosome 1, 34785261: 34785261
13 GJB4 NM_153212.2(GJB4): c.386G> A (p.Trp129Ter) single nucleotide variant Likely pathogenic rs148182439 GRCh37 Chromosome 1, 35227241: 35227241
14 GJB4 NM_153212.2(GJB4): c.386G> A (p.Trp129Ter) single nucleotide variant Likely pathogenic rs148182439 GRCh38 Chromosome 1, 34761640: 34761640
15 GJB3 NM_024009.2(GJB3): c.660G> A (p.Lys220=) single nucleotide variant Uncertain significance rs777765331 GRCh38 Chromosome 1, 34785422: 34785422
16 GJB3 NM_024009.2(GJB3): c.660G> A (p.Lys220=) single nucleotide variant Uncertain significance rs777765331 GRCh37 Chromosome 1, 35251023: 35251023
17 GJB3 NM_024009.2(GJB3): c.798C> T (p.Asn266=) single nucleotide variant Benign rs35983826 GRCh38 Chromosome 1, 34785560: 34785560
18 GJB3 NM_024009.2(GJB3): c.798C> T (p.Asn266=) single nucleotide variant Benign rs35983826 GRCh37 Chromosome 1, 35251161: 35251161
19 GJB3 NM_024009.2(GJB3): c.579C> T (p.Gly193=) single nucleotide variant Benign/Likely benign rs61744512 GRCh38 Chromosome 1, 34785341: 34785341
20 GJB3 NM_024009.2(GJB3): c.579C> T (p.Gly193=) single nucleotide variant Benign/Likely benign rs61744512 GRCh37 Chromosome 1, 35250942: 35250942
21 GJB3 NM_024009.2(GJB3): c.357C> T (p.Asn119=) single nucleotide variant Benign rs41310442 GRCh38 Chromosome 1, 34785119: 34785119
22 GJB3 NM_024009.2(GJB3): c.357C> T (p.Asn119=) single nucleotide variant Benign rs41310442 GRCh37 Chromosome 1, 35250720: 35250720
23 GJB3 NM_024009.2(GJB3): c.340G> A (p.Ala114Thr) single nucleotide variant Likely benign rs199689484 GRCh38 Chromosome 1, 34785102: 34785102
24 GJB3 NM_024009.2(GJB3): c.340G> A (p.Ala114Thr) single nucleotide variant Likely benign rs199689484 GRCh37 Chromosome 1, 35250703: 35250703
25 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh38 Chromosome 1, 34785342: 34785342
26 GJB3 NM_024009.2(GJB3): c.580G> A (p.Ala194Thr) single nucleotide variant Likely benign rs117385606 GRCh37 Chromosome 1, 35250943: 35250943
27 GJB3 NM_024009.2(GJB3): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic rs28937583 GRCh38 Chromosome 1, 34784863: 34784863
28 GJB3 NM_024009.2(GJB3): c.101T> C (p.Leu34Pro) single nucleotide variant Pathogenic rs28937583 GRCh37 Chromosome 1, 35250464: 35250464
29 GJB3 NM_024009.2(GJB3): c.125G> C (p.Arg42Pro) single nucleotide variant Pathogenic rs74315321 GRCh38 Chromosome 1, 34784887: 34784887
30 GJB3 NM_024009.2(GJB3): c.125G> C (p.Arg42Pro) single nucleotide variant Pathogenic rs74315321 GRCh37 Chromosome 1, 35250488: 35250488
31 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh38 Chromosome 1, 34785309: 34785309
32 GJB3 NM_024009.2(GJB3): c.547G> A (p.Glu183Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs74315318 GRCh37 Chromosome 1, 35250910: 35250910
33 GJB3 NM_024009.2(GJB3): c.256T> A (p.Cys86Ser) single nucleotide variant Pathogenic rs74315317 GRCh38 Chromosome 1, 34785018: 34785018
34 GJB3 NM_024009.2(GJB3): c.256T> A (p.Cys86Ser) single nucleotide variant Pathogenic rs74315317 GRCh37 Chromosome 1, 35250619: 35250619
35 GJB3 NM_024009.2(GJB3): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs74315316 GRCh38 Chromosome 1, 34784797: 34784797
36 GJB3 NM_024009.2(GJB3): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs74315316 GRCh37 Chromosome 1, 35250398: 35250398
37 GJB3 NM_024009.2(GJB3): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs74315315 GRCh38 Chromosome 1, 34784796: 34784796
38 GJB3 NM_024009.2(GJB3): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs74315315 GRCh37 Chromosome 1, 35250397: 35250397
39 GJB3 NM_024009.2(GJB3): c.*306C> T single nucleotide variant Uncertain significance rs1015503523 GRCh38 Chromosome 1, 34785881: 34785881
40 GJB3 NM_024009.2(GJB3): c.*306C> T single nucleotide variant Uncertain significance rs1015503523 GRCh37 Chromosome 1, 35251482: 35251482
41 GJB3 NM_024009.2(GJB3): c.*231G> A single nucleotide variant Likely benign rs72898302 GRCh38 Chromosome 1, 34785806: 34785806
42 GJB3 NM_024009.2(GJB3): c.*231G> A single nucleotide variant Likely benign rs72898302 GRCh37 Chromosome 1, 35251407: 35251407
43 GJB3 NM_024009.2(GJB3): c.*218C> A single nucleotide variant Likely benign rs78145978 GRCh38 Chromosome 1, 34785793: 34785793
44 GJB3 NM_024009.2(GJB3): c.*218C> A single nucleotide variant Likely benign rs78145978 GRCh37 Chromosome 1, 35251394: 35251394
45 GJB3 NM_024009.2(GJB3): c.*191C> T single nucleotide variant Uncertain significance rs541330173 GRCh38 Chromosome 1, 34785766: 34785766
46 GJB3 NM_024009.2(GJB3): c.*191C> T single nucleotide variant Uncertain significance rs541330173 GRCh37 Chromosome 1, 35251367: 35251367
47 GJB3 NM_024009.2(GJB3): c.*120C> T single nucleotide variant Uncertain significance rs1057515479 GRCh38 Chromosome 1, 34785695: 34785695
48 GJB3 NM_024009.2(GJB3): c.*120C> T single nucleotide variant Uncertain significance rs1057515479 GRCh37 Chromosome 1, 35251296: 35251296
49 GJB3 NM_024009.2(GJB3): c.*80G> C single nucleotide variant Uncertain significance rs779242382 GRCh38 Chromosome 1, 34785655: 34785655
50 GJB3 NM_024009.2(GJB3): c.*80G> C single nucleotide variant Uncertain significance rs779242382 GRCh37 Chromosome 1, 35251256: 35251256

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 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....