X-linked Hypohidrotic Ectodermal Dysplasia, XLHED

About the Disease
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked, also known as christ-siemens-touraine syndrome, is related to ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive and anhidrosis, and has symptoms including dyspnea, dry skin and koilonychia. An important gene associated with Ectodermal Dysplasia 1, Hypohidrotic, X-Linked is EDA (Ectodysplasin A), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Wnt / Hedgehog / Notch. The drugs Antibodies and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotypes are everted lower lip vermilion and microdontia

Common Targets
EDA | IKBKG

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