Condition
Oculocerebrorenal Syndrome
Urology / Fertility
Overview
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)
This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.
Quick facts about Oculocerebrorenal Syndrome
- Topic type
- Condition
- Category
- Urology / Fertility
- MeSH classification
- 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
Preparing for an appointment about Oculocerebrorenal Syndrome
If you are speaking with a healthcare professional about Oculocerebrorenal Syndrome, it can help to prepare a few details in advance.
- Write down your symptoms and when they started.
- Bring details of any medicines, supplements or previous treatments.
- Ask what tests or assessments may be needed.
- Ask what treatment or management options may be suitable.
- Ask when you should seek urgent medical help or follow-up care.
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Source: Medical Subject Headings (MeSH), produced by the U.S. National Library of Medicine. EuroCareFinder is not endorsed by the National Library of Medicine. MeSH version: 2026.