Structured Summary
Abstract
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)
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Synonyms
19 entry terms
- Cerebro-Oculo-Renal Syndrome
- Cerebrooculorenal Syndrome
- Lowe Disease
- Lowe Oculocerebrorenal Syndrome
- Lowe Syndrome
- Lowe-Bickel Syndrome
- Lowe-Terrey-MacLachlan Syndrome
- Oculocerebrorenal Dystrophy
- Oculocerebrorenal Syndrome of Lowe
- Renal-Oculocerebrodystrophy
- Cerebro Oculo Renal Syndrome
- Dystrophy, Oculocerebrorenal
- Lowe Bickel Syndrome
- Lowe Terrey MacLachlan Syndrome
- Renal Oculocerebrodystrophy
- Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
- Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
- Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase
- Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency
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Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
1991(1977)
MeSH Record
Previous Indexing
- Abnormalities, Multiple (1968-1976)
- Eye Diseases (1966-1976)
- Kidney Diseases (1966-1976)
MeSH Hierarchy
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AMA Style
References
- National Library of Medicine. Oculocerebrorenal Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D009800. http://id.nlm.nih.gov/mesh/2026/D009800
- Oculocerebrorenal Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Oculocerebrorenal_syndrome
- Oculocerebrorenal Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1200839