En könsbunden, recessiv störning som påverkar ett flertal system, bl a ögat, nervsystemet och njuren. Till de kliniska dragen hör medfödd starr, psykisk funktionsnedsättning och bristande njurkanalfunktion (Fanconis syndrom, njurkanalsacidos, X-bunden hypofosfatemi eller D-vitaminresistent rakit), samt skolios. Tillståndet beror på brist på fosfatidylinositol 4,5-bisfosfat-5-fosfatas, vilket leder till defekter i fosfatidylinositol-metabolismen och i inositolsignalprocessen.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
Lowes syndrom
Oculocerebrorenal Dystrophy — Dystrophy, Oculocerebrorenal — Renal-Oculocerebrodystrophy — Renal Oculocerebrodystrophy — Oculocerebrorenal Syndrome of Lowe — Lowe-Bickel Syndrome — Lowe Bickel Syndrome — Cerebrooculorenal Syndrome — Cerebro-Oculo-Renal Syndrome — Cerebro Oculo Renal Syndrome — Lowe Disease — Lowe Oculocerebrorenal Syndrome — Lowe-Terrey-MacLachlan Syndrome — Lowe Terrey MacLachlan Syndrome — Lowe Syndrome — Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency — Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency — Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency — Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase