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ENNail-Patella Syndrome (NPS)
Alias:
Turner-Kieser Syndrome
Onychoosteodysplasia
Fong Disease
Hereditary Onycho-Osteodysplasia
Nps
Hood - [hereditary Onycho-Osteodysplasia] Syndrome
Lmx1b-Related Nail-Patella Syndrome
Hereditary Osteo-Onychodysplasia
Hereditary Onychoostedysplasia
Nps - [nail-Patella Syndrome]
Österreicher-Turner Syndrome
Nail Patella Syndrome
Turner-Kiser Syndrome
Osterreicher Syndrome
Pelvic Horn Syndrome
Iliac Horn Syndrome
Nps1
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Nail-Patella Syndrome, also known as turner-kieser syndrome, is related to nephrotic syndrome and end stage renal disease, and has symptoms including arthralgia, metatarsalgia and koilonychia. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways/superpathways are Non-integrin membrane-ECM interactions and ECM proteoglycans. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are abnormality of the nail and abnormal digit morphology
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