Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis malady
Categories: Genetic diseases, Skin diseases, Rare diseases
Aliases & Descriptions for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
ichthyosis, cyclic, with epidermolytic hyperkeratosis:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
UniProtKB/Swiss-Prot:67 Ichthyosis annular epidermolytic: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months.
MalaCards based summary: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis, also known as cyclic ichthyosis with epidermolytic hyperkeratosis, is related to congenital ichthyosiform erythroderma and epidermolytic hyperkeratosis, and has symptoms including palmoplantar hyperkeratosis, congenital bullous ichthyosiform erythroderma and erythema. An important gene associated with Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis is KRT1 (Keratin 1). Affiliated tissues include skin, breast and small intestine.
Description from OMIM:49 607602
MalaCards organs/tissues related to Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:33
Skin, Breast, Small intestine
UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:67
Clinvar genetic disease variations for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis:5
Search GEO for disease gene expression data for Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet