Oculocerebrorenal Syndrome

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)

Also Known As:

Lowe Syndrome; Lowe Oculocerebrorenal Syndrome; Cerebro-Oculo-Renal Syndrome; Lowe Disease; 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; Cerebro Oculo Renal Syndrome; Deficiency, Phosphatidylinositol- 4,5- Bisphosphate- 5- Phosphatase; Dystrophy, Oculocerebrorenal; Lowe Bickel Syndrome; Lowe Terrey MacLachlan Syndrome; Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency; Renal Oculocerebrodystrophy; Cerebrooculorenal Syndrome

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Oculocerebrorenal Syndrome: 199
Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Inborn Errors Renal Tubular Transport
      - Oculocerebrorenal Syndrome: 199
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Inborn Errors Renal Tubular Transport
        Oculocerebrorenal Syndrome: 199
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Inborn Errors Renal Tubular Transport
        Oculocerebrorenal Syndrome: 199
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Oculocerebrorenal Syndrome: 199
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Oculocerebrorenal Syndrome: 199
    - Inborn Amino Acid Transport Disorders
      - Oculocerebrorenal Syndrome: 199
  - Oculocerebrorenal Syndrome: 199
  - X-Linked Genetic Diseases: 42
    - Oculocerebrorenal Syndrome: 199
  - Inborn Errors Renal Tubular Transport
    - Oculocerebrorenal Syndrome: 199
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Metabolic Brain Diseases: 2
      - Oculocerebrorenal Syndrome: 199
    - Inborn Amino Acid Transport Disorders
      - Oculocerebrorenal Syndrome: 199
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Oculocerebrorenal Syndrome: 199

Marion Weber-Boyvat Selected Research

Marion Weber-Boyvat Research Topics

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Therapy/Procedure