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Ontology Browser

Term:
erythrokeratodermia variabilis (DOID:0050467)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (6) Bonobo: (6) Dog: (6) Squirrel: (5) Pig: (7)
Parent Terms Term With Siblings Child Terms
Erythema +     
keratosis +     
monogenic disease +     
acquired hyperkeratosis 
acrokeratosis verruciformis  
actinic keratosis +   
Actinic Prurigo  
adermatoglyphia  
Albinism +   
Alport syndrome +   
amyotrophic lateral sclerosis +   
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
Autoinflammation with Arthritis and Dyskeratosis  
autosomal genetic disease +   
autosomal recessive congenital ichthyosis +   
Bartter disease +   
basal laminar drusen  
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
Brugada syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
Callosities +  
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
cherubism +   
cholesteatoma +   
chondrodysplasia punctata +   
ciliopathy +   
Collagenosis, Familial Reactive Perforating 
cone-rod dystrophy +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Defect in Hyaluronan Metabolism 
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema  
epidermolytic hyperkeratosis +   
Erythema Chronicum Migrans 
Erythema Induratum 
erythema infectiosum +   
erythema multiforme +   
erythema nodosum +   
erythrokeratodermia variabilis +   
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.
Erythrokeratodermia with Ataxia 
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fetal akinesia deformation sequence syndrome +   
gene duplication disease +   
geroderma osteodysplasticum  
Hailey-Hailey disease  
Hepatic Porphyrias +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
hereditary papulotranslucent acrokeratoderma 
Hereditary Sclerosing Poikiloderma +   
Histiocytic Dermatoarthritis 
Hooft Disease 
hyaline fibromatosis syndrome  
Hyperkeratosis Lenticularis Perstans 
hypochondrogenesis  
ichthyosis +   
ichthyosis vulgaris +   
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
isolated microphthalmia 4  
Isolated Osteopoikilosis 
Johnston Aarons Schelley Syndrome 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
lambda 5 deficiency 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
monilethrix +   
Muir-Torre syndrome  
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
Multiple Eruptive Milia 
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
multiple pterygium syndrome +   
Noonan syndrome +   
Oculotrichodysplasia 
Opitz-GBBB syndrome +   
orofaciodigital syndrome IX  
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
palmoplantar keratosis +   
Parakeratosis  
Parana Hard Skin Syndrome 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
plasminogen deficiency type I  
poikiloderma with neutropenia  
porokeratosis +   
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
primary cutaneous amyloidosis +   
progressive osseous heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
prolidase deficiency  
pseudoxanthoma elasticum +   
Ritscher-Schinzel syndrome +   
Rothmund-Thomson syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Sclerotylosis  
seborrheic keratosis +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
stiff skin syndrome  
Storm Syndrome 
Sweet syndrome  
Trichostasis Spinulosa 
trichothiodystrophy +   
Urban Schosser Spohn Syndrome 
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
X-linked monogenic disease +   
X-linked reticulate pigmentary disorder  
xeroderma pigmentosum +   
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: EKV ;   EKVP ;   Mendes De Costa syndrome ;   PSEK ;   erythro et keratodermia variabilis ;   erythrokeratodermia figurata variabilis ;   erythrokeratodermia variabilis et progressiva ;   progressive symmetric erythrokeratodermia
Primary IDs: MESH:D056266
Alternate IDs: RDO:0007739 ;   RDO:0014904
Xrefs: NCI:C84696 ;   OMIM:PS133200 ;   ORDO:317
Definition Sources: https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis "DO", MESH:D056266

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