MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Urogenital Diseases [C12]
- Female Urogenital Diseases and Pregnancy Complications [C12.050]
  - Female Urogenital Diseases [C12.050.351]
    - Urologic Diseases [C12.050.351.968]
      - Kidney Diseases [C12.050.351.968.419]
        
        Renal Tubular Transport, Inborn Errors [C12.050.351.968.419.815]
        
        Acidosis, Renal Tubular [C12.050.351.968.419.815.093]
        
        Bartter Syndrome [C12.050.351.968.419.815.279]
        
        Dent Disease [C12.050.351.968.419.815.364]
        
        Fanconi Syndrome [C12.050.351.968.419.815.450]
        
        Gitelman Syndrome [C12.050.351.968.419.815.491]
        
        Glycosuria, Renal [C12.050.351.968.419.815.532]
        
        Hypophosphatemia, Familial [C12.050.351.968.419.815.647]
        
        Liddle Syndrome [C12.050.351.968.419.815.683]
        
        Oculocerebrorenal Syndrome [C12.050.351.968.419.815.720]
        
        Pseudohypoaldosteronism [C12.050.351.968.419.815.770]
        
        Renal Aminoacidurias [C12.050.351.968.419.815.885]

Urogenital Diseases [C12]
- Male Urogenital Diseases [C12.200]
  - Urologic Diseases [C12.200.777]
    - Kidney Diseases [C12.200.777.419]
      - Renal Tubular Transport, Inborn Errors [C12.200.777.419.815]
        
        Acidosis, Renal Tubular [C12.200.777.419.815.093]
        
        Bartter Syndrome [C12.200.777.419.815.279]
        
        Dent Disease [C12.200.777.419.815.364]
        
        Fanconi Syndrome [C12.200.777.419.815.450]
        
        Gitelman Syndrome [C12.200.777.419.815.491]
        
        Glycosuria, Renal [C12.200.777.419.815.532]
        
        Hypophosphatemia, Familial [C12.200.777.419.815.647]
        
        Liddle Syndrome [C12.200.777.419.815.683]
        
        Oculocerebrorenal Syndrome [C12.200.777.419.815.720]
        
        Pseudohypoaldosteronism [C12.200.777.419.815.770]
        
        Renal Aminoacidurias [C12.200.777.419.815.885]

Urogenital Diseases [C12]
- Urologic Diseases [C12.950]
  - Kidney Diseases [C12.950.419]
    - Renal Tubular Transport, Inborn Errors [C12.950.419.815]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Genetic Diseases, X-Linked [C16.320.322]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Transport Disorders, Inborn [C16.320.565.151]
      - Hartnup Disease [C16.320.565.151.355]
      - Oculocerebrorenal Syndrome [C16.320.565.151.600]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Renal Tubular Transport, Inborn Errors [C16.320.831]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Transport Disorders, Inborn [C18.452.648.151]
      - Hartnup Disease [C18.452.648.151.355]
      - Oculocerebrorenal Syndrome [C18.452.648.151.600]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

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)
Terms: Oculocerebrorenal Syndrome Preferred Term
Term UI T029117
Date01/01/1999
LexicalTag NON
ThesaurusID; Lowe-Terrey-MacLachlan Syndrome
Term UI T369794
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Oculocerebrorenal Dystrophy
Term UI T369795
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Renal-Oculocerebrodystrophy
Term UI T369796
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Oculocerebrorenal Syndrome of Lowe
Term UI T841931
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Lowe Syndrome
Term UI T029116
Date05/12/1976
LexicalTag EPO
ThesaurusID; Cerebrooculorenal Syndrome
Term UI T369789
Date11/03/1999
LexicalTag NON
ThesaurusID; Cerebro-Oculo-Renal Syndrome
Term UI T369790
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Lowe Disease
Term UI T369791
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Lowe Oculocerebrorenal Syndrome
Term UI T369792
Date11/03/1999
LexicalTag EPO
ThesaurusID; Lowe-Bickel Syndrome
Term UI T369793
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000)

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Related

Oculocerebrorenal Syndrome MeSH Descriptor Data 2025