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ENUrofacial Syndrome 1 (UFS1)
Alias:
Urofacial Syndrome
Ochoa Syndrome
Hydronephrosis with Peculiar Facial Expression
Partial Facial Palsy with Urinary Abnormalities
Inverted Smile and Occult Neuropathic Bladder
Ufs
Inverted Smile-Neurogenic Bladder Syndrome
Hydronephrosis-Inverted Smile Syndrome
Urofacial Syndrome Type 1
Ufs1
Partial Facial Palsy Partial with Urinary Abnormalities
Facial Palsy, Partial, with Urinary Abnormalities
Hydronephrosis Peculiar Facial Expression
Inverted Smile-Neurogenic Bladder
Hydronephrosis-Inverted Smile
Urofacial Ochoa's Syndrome
Urofacial Syndrome, Type 1
Urologic Diseases
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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 Tranexamic acid and Uric acid have been mentioned in the context of this disorder. Affiliated tissues include kidney and prostate, and related phenotypes are recurrent urinary tract infections and constipation
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