Urofacial Syndrome

About the Disease
Urofacial Syndrome 1, also known as urofacial syndrome, is related to neurogenic bladder and lagophthalmos, and has symptoms including dysuria, polyuria and urgency of micturition. An important gene associated with Urofacial Syndrome 1 is HPSE2 (Heparanase 2 (Inactive)), and among its related pathways/superpathways is 2q11.2 copy number variation syndrome. The drugs Levoleucovorin and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and brain, and related phenotypes are recurrent urinary tract infections and constipation

Common Targets
HPSE2 | LRIG2

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