What does oculocerebrorenal syndrome mean?
Definitions for oculocerebrorenal syndrome
ocu·lo·cere·brore·nal syn·drome
This dictionary definitions page includes all the possible meanings, example usage and translations of the word oculocerebrorenal syndrome.
Wikidata
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases. Lowe syndrome can be considered a cause of Fanconi syndrome.
U.S. National Library of Medicine
Oculocerebrorenal Syndrome
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)
Numerology
Chaldean Numerology
The numerical value of oculocerebrorenal syndrome in Chaldean Numerology is: 9
Pythagorean Numerology
The numerical value of oculocerebrorenal syndrome in Pythagorean Numerology is: 7
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"oculocerebrorenal syndrome." Definitions.net. STANDS4 LLC, 2024. Web. 27 Apr. 2024. <https://www.definitions.net/definition/oculocerebrorenal+syndrome>.
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