Cranioectodermal Dysplasia

About the Disease
Cranioectodermal Dysplasia 1, also known as sensenbrenner syndrome, is related to short-rib thoracic dysplasia 5 with or without polydactyly and short-rib thoracic dysplasia 7 with or without polydactyly. An important gene associated with Cranioectodermal Dysplasia 1 is IFT122 (Intraflagellar Transport 122), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include skin, kidney and liver, and related phenotypes are hepatomegaly and inguinal hernia

Common Targets
WDR35 | IFT140

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