Ichthyosis, X-Linked malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 12diseasecard, 37MeSH, 66UMLS, 33LifeMap Discovery®, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Ichthyosis, X-Linked:
Orphanet epidemiological data:52
Inheritance: X-linked recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
syndromic recessive x-linked ichthyosis:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases
ICD10: 29 28
NIH Rare Diseases:46 X-linked ichthyosis is a disorder in which the skin cells are produced at a normal rate but they do not separate properly at the surface of the stratum corneum (the outermost layer of the skin). this slows the rate of shedding of the skin cells, resulting in a build-up of scales. the scales of x-linked ichthyosis are often dark and usually cover only a portion of the body. typically, the trunk and back of the neck are more likely to be affected. scales are usually not found on the face, scalp, palms of the hands, and soles of the feet. x-linked ichthyosis mostly affects males. it is usually caused by a mutation or deletion in the sts gene and is inherited in an x-linked recessive manner. in rare cases, the ichthyosis can be part of a genetic syndrome in which other parts of the body are affected. topical treatment may consist of alpha-hydroxy acids, lubricating bath oils, and emollients. for adult patients, systemic retinoids may be an option, especially during winter when the ichthyosis is often more severe. the ichthyosis is life-long, but the scaling may improve with age. last updated: 3/15/2016
MalaCards based summary: Ichthyosis, X-Linked, also known as x-linked ichthyosis, is related to ichthyosis vulgaris and chondrodysplasia punctata with steroid sulfatase deficiency, and has symptoms including dry skin, hyperkeratosis and hypohidrosis. An important gene associated with Ichthyosis, X-Linked is STS (Steroid Sulfatase (Microsomal), Isozyme S), and among its related pathways are Sphingolipid metabolism and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include skin, breast and lung.
OMIM:50 Ichthyosis is a genetically heterogeneous disorder of the skin. See, e.g., autosomal dominant ichthyosis vulgaris... (308100) more...
UniProtKB/Swiss-Prot:68 Ichthyosis, X-linked: A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks.
Wikipedia:69 X-linked ichthyosis (XLI) (also known as \"Steroid sulfatase deficiency,\" and \"X-linked recessive... more...
Symptoms by clinical synopsis from OMIM:308100
Clinical features from OMIM:308100
Symptoms:52 (show all 24)
HPO human phenotypes related to Ichthyosis, X-Linked:(show all 27)
Drugs for Ichthyosis, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 92)
Interventional clinical trials:(show top 50) (show all 182)
Search NIH Clinical Center for Ichthyosis, X-Linked
MalaCards organs/tissues related to Ichthyosis, X-Linked:34
Skin, Breast, Lung, Brain, Kidney, Testes, Bone
UniProtKB/Swiss-Prot genetic disease variations for Ichthyosis, X-Linked:68
Clinvar genetic disease variations for Ichthyosis, X-Linked:5
Copy number variations for Ichthyosis, X-Linked from CNVD:6
Search GEO for disease gene expression data for Ichthyosis, X-Linked.
Pathways related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:
Cellular components related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:
Biological processes related to Ichthyosis, X-Linked according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet