VI
MCID: ICH001
MIFTS: 55
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Ichthyosis Vulgaris (VI)
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Ichthyosis Vulgaris:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually after 3 months age lesions rare in the axillae, antecubital or popliteal fossae palms and soles often show increased markings frequent asthma, eczema, or hay fever Classifications:
ICD10:
31
ICD11:
33
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UniProtKB/Swiss-Prot: 73 The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. MalaCards based summary: Ichthyosis Vulgaris, also known as ichthyosis simplex, is related to dermatitis and dermatitis, atopic, 2, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Vulgaris is FLG (Filaggrin), and among its related pathways/superpathways are Nervous system development and Keratinization. The drugs Ustekinumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, neutrophil and lymph node, and related phenotypes are asthma and eczematoid dermatitis OMIM®: 57 The phenotypic characteristics of ichthyosis vulgaris include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs. Marked presentation includes prominent scaling, whereas mild presentation consists of palmar hyperlinearity, keratosis pilaris, and, in some cases, fine scaling (summary by Smith et al., 2006). (146700) (Updated 08-Dec-2022) GARD: 19 Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. This condition is inherited in an autosomal dominant pattern. Disease Ontology: 11 An ichthyosis that has material basis in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. Wikipedia: 75 Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis" and "Ichthyosis simplex") is a skin... more... |
Human phenotypes related to Ichthyosis Vulgaris:30 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:146700 (Updated 08-Dec-2022)UMLS symptoms related to Ichthyosis Vulgaris:trichorrhexis invaginata |
Drugs for Ichthyosis Vulgaris (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:(show all 17)
Inferred drug relations via UMLS 71 / NDF-RT 50 :
Cochrane evidence based reviews: ichthyosis vulgaris |
Organs/tissues related to Ichthyosis Vulgaris:
MalaCards :
Skin,
Neutrophil,
Lymph Node,
Small Intestine,
Bone Marrow,
Bone,
Thyroid
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Articles related to Ichthyosis Vulgaris:(show top 50) (show all 533)
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ClinVar genetic disease variations for Ichthyosis Vulgaris:5 (show top 50) (show all 74)
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Search
GEO
for disease gene expression data for Ichthyosis Vulgaris.
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Pathways related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:
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Cellular components related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:
Biological processes related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Ichthyosis Vulgaris according to GeneCards Suite gene sharing:
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