Heimler Syndrome

About the Disease
Heimler Syndrome 1, also known as deafness enamel hypoplasia nail defects, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 1b. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Cell adhesion_ECM remodeling and a6b1 and a6b4 Integrin signaling. Affiliated tissues include skin, brain and eye, and related phenotypes are intellectual disability and diabetes mellitus

Common Targets
PEX1 | PEX6

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