About The Medical Condition Cerebrooculorenal Syndrome
Find the definition of the medical term Cerebrooculorenal Syndrome. Cerebrooculorenal Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cerebrooculorenal Syndrome
| Cerebrooculorenal Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Cerebrooculorenal 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
- Bone Morphogenetic Protein ‐ Bone-growth regulatory factors that are members of the transforming…
- Plate, Epiphyseal ‐ The area between the epiphysis and the diaphysis within which…
- Gallbladder Neoplasms ‐ Tumors or cancer of the…
- Microarrays, Oligonucleotide ‐ Hybridization of a nucleic acid sample to a very large set of…
- Chorea, Hereditary ‐ Acquired and hereditary conditions which feature CHOREA as a…
- Geriatric Nursing ‐ Nursing care of the aged patient given in the home, the hospital,…
- Procedures, Fetoscopic Surgical ‐ Endoscopic examination, therapy or surgery of the fetus and amniotic…
- Chorion ‐ The outermost extraembryonic…
- Pupillary Sphincter Ruptures ‐ Conditions which affect the structure or function of the pupil…
- Dicarboxylic Acid Transporters ‐ A family of ORGANIC ION TRANSPORTERS that specifically transport…