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Details
Link-It Detail - Disease - Erythrokeratodermia Variabilis
Debug Stats
  • ### Total Build Time: 223 ms 23.214 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 358 bytes
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Disease (1)
Erythrokeratodermia Variabilis C0265961
Definition (1)
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.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (3)
img Keratosis C0022593
img Erythema C0041834
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Keratosis C0022593
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Erythema C0041834
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (20)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 17
diso_​to_​phen : 1


Relationships:
none : 1
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
manifestation_​of : 10
permuted_​term_​of : 1
related_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOmanifestation_ofimg Autosomal recessive inheritance in one family (see 603342.0010) C3149252
DISO_to_DISOmanifestation_ofimg Caused by mutation in the beta-3 gap junction protein gene (GJB3, 603324.0001) C3149251
DISO_to_DISOmanifestation_ofimg Caused by mutation in the beta-4 gap junction protein gene (GJB4, 605425.0001) C1969918
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOassociated_withimg Dehydrated structure C0011174
DISO_to_DISOmanifestation_ofimg Erythema often triggered by sudden temperature change or emotional stress C1969919
DISO_to_DISOpermuted_term_ofimg Erythrokeratodermia Variabilis C0265961
DISO_to_DISOrelated_toimg Greither Disease C1851480
DISO_to_DISOassociated_withimg Hyperkeratosis C0870082
DISO_to_DISOmanifestation_ofimg Hyperkeratosis triggered by chronic mechanical irritation C1969920
DISO_to_DISOmanifestation_ofimg Hyperkeratosis, generalized C1969913
DISO_to_DISOrelated_toimg Keratoderma palmoplantaris transgrediens C1851479
DISO_to_DISOmanifestation_ofimg Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) C1969914
DISO_to_DISOmanifestation_ofimg Onset in infancy C1864921
DISO_to_DISOmanifestation_ofimg Palmoplantar keratoderma, patchy (>50%) C1969915
DISO_to_DISOmanifestation_ofimg Transient, migratory sharply outlined erythema (in some patients) C3149250
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanGJB4127534gap junction protein, beta 4, 30.3kDa
img GENERIF, Score=1000, Pubmed Id: 12648223, UMLKSK CUI: C0265961
HumanGJB32707gap junction protein, beta 3, 31kDa
img GENERIF, Score=651, Pubmed Id: 16297190, UMLKSK CUI: C0265961
img GENERIF, Score=1000, Pubmed Id: 12019212, UMLKSK CUI: C0265961
img GENERIF, Score=840, Pubmed Id: 12176042, UMLKSK CUI: C0265961
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265961Erythrokeratodermia Variabilis0self