About The Medical Condition Oculocerebrorenal Syndrome
Find the definition of the medical term Oculocerebrorenal Syndrome. Oculocerebrorenal Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Oculocerebrorenal Syndrome
| Oculocerebrorenal Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Oculocerebrorenal Syndrome?
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Proteins, Encephalitogenic Basic ‐ A group of 7 proteins produced from a single gene by alternate…
- Dicarboxylate Carrier ‐ A family of ORGANIC ION TRANSPORTERS that specifically transport…
- Brainstem Neoplasms, Primary ‐ Benign and malignant intra-axial tumors of the MESENCEPHALON;…
- Long-Term Care Insurance ‐ Health insurance to provide full or partial coverage for long-term…
- Unilateral Headache ‐ Pain in the cranial region that may occur as an isolated and…
- Postoperative Pains ‐ Pain during the period…
- Platelet Transforming Growth Factor ‐ A factor synthesized in a wide variety of tissues. It acts synergistically…
- Frontal Gait ‐ Gait abnormalities that are a manifestation of nervous system…
- Compression, Spinal Cord ‐ Acute and chronic conditions characterized by external mechanical…
- Disturbances, Menstruation ‐ Variations of menstruation which may be indicative…