Search on: OCULOCEREBRORENAL SYNDROME 
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Descriptor English:   Oculocerebrorenal Syndrome 
Descriptor Spanish:   Síndrome Oculocerebrorrenal 
Descriptor Portuguese:   Síndrome Oculocerebrorrenal 
Synonyms English:   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:   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
Definition English:   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) 
History Note English:   1991(1977) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   9986 
Unique Identifier:   D009800 

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