oculocerebrorenal : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Oculocerebrorenal Syndrome - 새창 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)
Synonyms : Cerebro-Oculo-Renal Syndrome, Lowe Disease, Lowe Oculocerebrorenal Syndrome, Lowe-Bickel Syndrome, Lowe-Terrey-MacLachlan Syndrome, Oculocerebrorenal Dystrophy, Renal-Oculocerebrodystrophy, Cerebro Oculo Renal Syndrome, Cerebro-Oculo-Renal Syndromes