About The Medical Condition Cerebro-Oculo-Renal Syndromes
Find the definition of the medical term Cerebro-Oculo-Renal Syndromes. Cerebro-Oculo-Renal Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Cerebro-Oculo-Renal Syndromes
| Cerebro-Oculo-Renal Syndromes Medical Condition |
|---|
What's The Definition Of The Medical Condition Cerebro-Oculo-Renal Syndromes?
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
- Adjustment, Case-Mix ‐ The use of severity-of-illness measures, such as age, to estimate…
- Grey Hamster ‐ A genus of the family Muridae consisting of eleven species. C.…
- Synthetic ACTH ‐ A synthetic polypeptide with adrenocorticotropic (CORTICOTROPIN)…
- Puerperal Disorder ‐ Disorders or diseases associated with the six-to-eight-week period…
- Encephalomyelitis Virus, Eastern Equine ‐ A species of ALPHAVIRUS causing encephalomyelitis in Equidae…
- Cell, HT29 ‐ Human colonic adenocarcinoma cells that are able to express differentiation…
- Aqueous Humor Shunt ‐ Devices, usually incorporating unidirectional valves, which are…
- Therapy, Language ‐ Rehabilitation of persons with language disorders or training…
- Osteomalacias ‐ A condition marked by softening of the bones (due to impaired…
- Glucosephosphate Isomerase ‐ An enzyme that catalyzes the reversible interconversion of glucose…