Ichthyosis Histrix, Curth-Macklin Type malady
Categories: Genetic diseases, Rare diseases, Skin diseases
Aliases & Descriptions for Ichthyosis Histrix, Curth-Macklin Type:
Orphanet epidemiological data:53
ichthyosis hystrix, curth-macklin type:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy
ichthyosis histrix, curth-macklin type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
OMIM:51 Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of... (146590) more...
MalaCards based summary: Ichthyosis Histrix, Curth-Macklin Type, is also known as ichthyosis hystrix, curth-macklin type, and has symptoms including hyperkeratosis, ichthyosis and skin ulcer. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin.
UniProtKB/Swiss-Prot:69 Ichthyosis hystrix, Curth-Macklin type: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks.
Human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:63 53 (show all 12)
Genetic tests related to Ichthyosis Histrix, Curth-Macklin Type:
MalaCards organs/tissues related to Ichthyosis Histrix, Curth-Macklin Type:35
Search GEO for disease gene expression data for Ichthyosis Histrix, Curth-Macklin Type.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet