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  • Lowes syndrome->oculocerebrorenal syndrome
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  • oculocerebrorenal dystrophy
    ¾È³ú½ÅÀ§Ãà(äÑÒàãìê×õê).
  • oculocerebrorenal dystrophy
    ¾È³ú½ÅÀ§Ãà(äÑÒàãìê×õê)
  • oculocerebrorenal syndrome
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OCR oculocardiac reflex; oculocerebrorenal [syndrome]; optical character recognition
OCRL Lowe's oculocerebrorenal [syndrome]
OCRS oculocerebrorenal syndrome
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OCRL Oculocerebrorenal syndrome of Lowe
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oculocerebrorenal Relating to the eyes, brain, and kidneys.
(05 Mar 2000)
oculocerebrorenal syndrome <syndrome> Autosomal recessive syndrome in which ocular signs include cataracts and glaucoma. The central nervous system defects are manifested by mental retardation and hypotonia, and the renal abnormalities consist of tubular and later, glomerular insufficiency.
(12 Dec 1998)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 1 ÆäÀÌÁö: 1
  • Oculocerebrorenal Syndrome - »õâ 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
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oculocerebrorenal d. see under syndrome.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
oculocerebrorenal s. an X-linked disorder characterized by vitamin D–refractory rickets, hydrophthalmia, congenital glaucoma and cataracts, mental retardation, and tubule reabsorption dysfunction as evidenced by hypophosphatemia, acidosis, and aminoaciduria. Called also Lowe disease and Lowe-Terrey-MacLachlan s.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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