About The Medical Condition Dystrophies, Oculocerebrorenal
Find the definition of the medical term Dystrophies, Oculocerebrorenal. Dystrophies, Oculocerebrorenal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Dystrophies, Oculocerebrorenal
| Dystrophies, Oculocerebrorenal Medical Condition |
|---|
What's The Definition Of The Medical Condition Dystrophies, Oculocerebrorenal?
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
- Crest, Neural ‐ A strip of specialized ectoderm flanking each side of the embryonal…
- PN-200-110 ‐ A potent antagonist of CALCIUM CHANNELS that is highly selective…
- Antibodies, Allotypic ‐ Hereditary serologic types based on antigenic differences in…
- Photosystem II Reaction Center ‐ A system consisting of proteins and cofactors which facilitates…
- Fatigue, Voice ‐ Disorders of voice pitch, loudness, or quality. Dysphonia refers…
- Drug Combinations, Anticancer ‐ The use of two or more chemicals simultaneously or sequentially…
- Conformation, Protein beta-Sheet ‐ The level of protein structure in which regular hydrogen-bond…
- Stove-in Chest ‐ A complication of multiple rib fractures, rib and sternum fractures,…
- Prenatal Injury ‐ Delayed effects on offspring of maternal or fetal prenatal exposure…
- Rates, Fertility ‐ The number of births in a given population per year or other…