Related MeSH Hierarchy (7)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Netherton Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Skin Abnormalities » Ichthyosis » Ichthyosiform Erythroderma, Congenital » Netherton Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Netherton Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Infant, Newborn, Diseases » Ichthyosis » Ichthyosiform Erythroderma, Congenital » Netherton Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Keratosis » Ichthyosis » Ichthyosiform Erythroderma, Congenital » Netherton Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Abnormalities » Ichthyosis » Ichthyosiform Erythroderma, Congenital » Netherton Syndrome
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Skin Diseases » Skin Diseases, Genetic » Netherton Syndrome
Description
Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. MeSH
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Phase 2 Indicated Drugs (2)
Phase 1 Indicated Drugs (1)
Organization Involved with Phase 3 Indications (2)
Organization Involved with Phase 2 Indications (5)
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