Ichthyosis Histrix, Curth-Macklin Type malady
Categories: Genetic diseases, Rare diseases, Skin diseases
Aliases & Descriptions for Ichthyosis Histrix, Curth-Macklin Type:
Orphanet epidemiological data:51
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:49 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, also known as ichthyosis hystrix, curth-macklin type, is related to pulsating exophthalmos and klinefelter's syndrome, and has symptoms including skin ulcer, ichthyosis and hyperkeratosis. An important gene associated with Ichthyosis Histrix, Curth-Macklin Type is KRT1 (Keratin 1). Affiliated tissues include skin.
UniProtKB/Swiss-Prot:67 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.
Diseases related to Ichthyosis Histrix, Curth-Macklin Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of diseases related to Ichthyosis Histrix, Curth-Macklin Type:
Symptoms by clinical synopsis from OMIM:146590
Clinical features from OMIM:146590
Symptoms:51 (show all 8)
HPO human phenotypes related to Ichthyosis Histrix, Curth-Macklin Type:(show all 8)
MalaCards organs/tissues related to Ichthyosis Histrix, Curth-Macklin Type:33
Search GEO for disease gene expression data for Ichthyosis Histrix, Curth-Macklin Type.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet