About The Medical Condition Cerebro-Oculo-Renal Syndrome
Find the definition of the medical term Cerebro-Oculo-Renal Syndrome. Cerebro-Oculo-Renal Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cerebro-Oculo-Renal Syndrome
Cerebro-Oculo-Renal Syndrome Medical Condition |
---|
What's The Definition Of The Medical Condition Cerebro-Oculo-Renal 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
- Gene Product, vif ‐ A 23 kDa regulatory protein important for virion infectivity…
- Gastrin Receptors ‐ Cell surface proteins that bind cholecystokinin (CCK) with high…
- Engine Exhaust ‐ Gases, fumes, vapors, and odors escaping from the cylinders of…
- Methicillin Sodium ‐ One of the PENICILLINS which is resistant to penicillinase but…
- Sarcoma, Osteogenic ‐ A sarcoma originating in bone-forming cells, affecting the ends…
- Vegetative State, Transient ‐ Vegetative state refers to the neurocognitive status of individuals…
- Gray Whales ‐ Large marine mammals of the order Cetacea. In the past, they…
- Neutrophil Antimicrobial Peptides ‐ DEFENSINS found in azurophilic granules of neutrophils and in…
- Syncytial Viruses, Respiratory ‐ A group of viruses in the PNEUMOVIRUS genus causing respiratory…
- Ammonia-Lyase, Ethanolamine ‐ An enzyme that catalyzes the deamination of ethanolamine to acetaldehyde.…