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Oculocerebrorenal Syndrome MeSH Descriptor Data 2022


MeSH Heading
Oculocerebrorenal Syndrome
Tree Number(s)
C10.228.140.163.100.640
C12.050.351.968.419.815.720
C12.200.777.419.815.720
C12.950.419.815.720
C16.131.077.662
C16.320.322.750
C16.320.565.151.600
C16.320.565.189.640
C16.320.709
C16.320.831.750
C18.452.132.100.640
C18.452.648.151.600
C18.452.648.189.640
Unique ID
D009800
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D009800
Scope Note
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)
Entry Term(s)
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
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Renal-Oculocerebrodystrophy
Previous Indexing
Abnormalities, Multiple (1968-1976)
Eye Diseases (1966-1976)
Kidney Diseases (1966-1976)
Public MeSH Note
1991; see RENAL TUBULAR TRANSPORT, INBORN ERRORS 1977-1990
History Note
1991(1977)
Date Established
1991/01/01
Date of Entry
1976/05/19
Revision Date
2021/06/30
Oculocerebrorenal Syndrome Preferred
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Related
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