Oculocerebrorenal Syndrome

Okulocerebrorenalt syndrom

Svensk definition

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.

Engelsk definition

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)

Svenska synonymer

Lowes syndrom

Engelska synonymer

Cerebrooculorenal Syndrome Cerebro-Oculo-Renal Syndrome Cerebro Oculo Renal Syndrome Lowe Disease Oculocerebrorenal Syndrome of Lowe Lowe-Bickel Syndrome Lowe Bickel Syndrome Lowe-Terrey-MacLachlan Syndrome Lowe Terrey MacLachlan Syndrome Oculocerebrorenal Dystrophy Dystrophy, Oculocerebrorenal Renal-Oculocerebrodystrophy Renal Oculocerebrodystrophy Lowe Syndrome Lowe Oculocerebrorenal 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