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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:erythrokeratodermia variabilis
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Accession:DOID:0050467 term browser browse the term
Definition:An autosomal dominant skin disease characterized by transient and variable noninflammatory ERYTHEMA and hyperkeratosis. It has been associated with mutations in the genes that code for CONNEXINS. Erythrokeratodermia variabilis inherited in an autosomal recessive fashion has also been reported. Affected individuals often develop PALMOPLANTAR KERATODERMA.
Synonyms:exact_synonym: EKV;   EKVP;   Mendes De Costa syndrome;   PSEK;   erythro et keratodermia variabilis;   erythrokeratodermia figurata variabilis;   erythrokeratodermia variabilis et progressiva;   progressive symmetric erythrokeratodermia
 primary_id: MESH:D056266
 alt_id: RDO:0007739;   RDO:0014904
 xref: NCI:C84696;   OMIM:PS133200;   ORDO:317
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
erythrokeratodermia variabilis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:p.E227D,p.A44V(human) RGD PMID:25398053 RGD:11568612 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutations:cds:p.G12D, p.L209F (human)
DNA:missense mutation:exon:p.T202N (c.605C>A) (human)
DNA:missense mutation:exon:p.G45E (c.134G>A)(human)
DNA:missense mutation:exon:p.L135V (c.403C>G) (human)
DNA:missense mutation:exon:p.R42P (125G>C) (human)
DNA:missense mutation:exon:p.L209F (625C>T) (human)
DNA:missense mutations:exon:p.G12R (34G>C), p.G12D (35G>A), p.C86S (256T>A) (human)
DNA:missense mutation:cds:p.R42P (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:9843209, PMID:16297190, PMID:25556823, PMID:22681493, PMID:21188847, PMID:10798362, PMID:15948974, PMID:9843209, PMID:10594760 RGD:1578480, RGD:11251416, RGD:12437067, RGD:12436734, RGD:11097171, RGD:12436731, RGD:12436729, RGD:12050153 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO DNA:missense mutations:exon:multiple
DNA:missense mutation:exon:p.C86S (c.256T>A) (human)
DNA:missense mutation: :p.F137L (human)
RGD PMID:12648223, PMID:23037955, PMID:11017804 RGD:1598970, RGD:12437072, RGD:1598971 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
erythrokeratodermia variabilis et progressiva 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 OMIM
ClinVar
PMID:9843209, PMID:9843210, PMID:10587579, PMID:10594760, PMID:10798362, PMID:10888284, PMID:11175305, PMID:12019212, PMID:12165562, PMID:12702148, PMID:15131355, PMID:17567887, PMID:19050930, PMID:20981092, PMID:24033266, PMID:24498627, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27884173, PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1 ClinVar PMID:25741868 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
erythrokeratodermia variabilis et progressiva 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 ClinVar
OMIM
PMID:148984, PMID:6437964, PMID:11017804, PMID:12648223 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
erythrokeratodermia variabilis et progressiva 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 ClinVar
OMIM
PMID:25398053, PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
erythrokeratodermia variabilis et progressiva 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 ClinVar
OMIM
PMID:28575652 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
erythrokeratodermia variabilis et progressiva 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 ClinVar
OMIM
PMID:27965375 NCBI chr 7:143,078,996...143,085,833
Ensembl chr 7:143,078,996...143,085,833
JBrowse link
Erythrokeratodermia Variabilis et Progressiva 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM
ClinVar
PMID:30528822 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
JBrowse link
Erythrokeratodermia Variabilis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO DNA:missense mutation:CDS:p.L34P (101T>C) (human)
DNA:missense mutation:exon:p.V30I (c.G88A) (human)
RGD PMID:12019212, PMID:21564177 RGD:12050155, RGD:12436733 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
MEDNIK syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
DNA:mutation:splice junction:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19057675, PMID:23423674, PMID:25741868, PMID:30244301, PMID:19057675 RGD:9684947 NCBI chr12:22,665,128...22,676,079
Ensembl chr12:22,665,112...22,676,075
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      skin disease 2749
        Erythema 58
          erythrokeratodermia variabilis 7
            Erythrokeratodermia Variabilis et Progressiva 6 1
            Erythrokeratodermia Variabilis, Autosomal Recessive 1
            Keratoderma Palmoplantaris Transgrediens 0
            MEDNIK syndrome 1
            erythrokeratodermia variabilis et progressiva 1 2
            erythrokeratodermia variabilis et progressiva 2 1
            erythrokeratodermia variabilis et progressiva 3 1
            erythrokeratodermia variabilis et progressiva 4 1
            erythrokeratodermia variabilis et progressiva 5 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            Erythema 58
              erythrokeratodermia variabilis 7
                Erythrokeratodermia Variabilis et Progressiva 6 1
                Erythrokeratodermia Variabilis, Autosomal Recessive 1
                Keratoderma Palmoplantaris Transgrediens 0
                MEDNIK syndrome 1
                erythrokeratodermia variabilis et progressiva 1 2
                erythrokeratodermia variabilis et progressiva 2 1
                erythrokeratodermia variabilis et progressiva 3 1
                erythrokeratodermia variabilis et progressiva 4 1
                erythrokeratodermia variabilis et progressiva 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.