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Descriptor English: Oculocerebrorenal Syndrome
Descriptor Spanish: Síndrome Oculocerebrorrenal
Descriptor Portuguese: Síndrome Oculocerebrorrenal
Descriptor French: Syndrome de Lowe
Entry term(s): Cerebro Oculo Renal Syndrome
Cerebro-Oculo-Renal Syndrome
Cerebrooculorenal Syndrome
Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase
Dystrophy, Oculocerebrorenal
Lowe Bickel Syndrome
Lowe Disease
Lowe Oculocerebrorenal Syndrome
Lowe Syndrome
Lowe Terrey MacLachlan 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
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Renal Oculocerebrodystrophy
Renal-Oculocerebrodystrophy
Tree number(s): C10.228.140.163.100.640
C12.777.419.815.720
C13.351.968.419.815.720
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
RDF Unique Identifier: https://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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
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)
DeCS ID: 9986
Unique ID: D009800
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1976/05/19
Revision Date: 2016/06/30
Oculocerebrorenal Syndrome - Preferred
Concept UI M0015215
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)
Preferred term Oculocerebrorenal Syndrome
Entry term(s) Cerebro Oculo Renal Syndrome
Cerebro-Oculo-Renal Syndrome
Cerebrooculorenal Syndrome
Dystrophy, Oculocerebrorenal
Lowe Bickel Syndrome
Lowe Disease
Lowe Oculocerebrorenal Syndrome
Lowe Syndrome
Lowe Terrey MacLachlan Syndrome
Lowe-Bickel Syndrome
Lowe-Terrey-MacLachlan Syndrome
Oculocerebrorenal Dystrophy
Oculocerebrorenal Syndrome of Lowe
Renal Oculocerebrodystrophy
Renal-Oculocerebrodystrophy
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency - Related but not broader or narrower
Concept UI M0536558
Preferred term Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Entry term(s) Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase
Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency



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