Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary aceruloplasminemia is an autosomal recessive disorder of iron homeostasis due to loss-of-function mutations in the ceruloplasmin gene. Affected individuals may present in adulthood with evidence of hepatic iron overload, diabetes, peripheral retinal degeneration, dystonia, dementia, or dysarthria. Laboratory studies demonstrate microcytic anemia, elevated serum ferritin, and a complete absence of serum ceruloplasmin ferroxidase activity. Consistent with the observed neurologic findings, magnetic resonance imaging reveals iron accumulation within the basal ganglia. Histologic studies detect abundant iron in hepatocytes, reticuloendothelial cells of the liver and spleen, beta cells of the pancreas, and astrocytes and neurons throughout the central nervous system. Characterization of this disorder reveals an essential role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores and provides new insights into the mechanisms of human iron metabolism.
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PMID:The copper-iron connection: hereditary aceruloplasminemia. 1238 3

Extensive clinical data (595 patients) were made use of to work out a clinical classification and to isolate 2 groups of patients, i.e. one with primary retinoschisis and the other with secondary retinoschisis. According to etiopathogenesis, primary retinoschisis is subdivided into the inherited (congenital) variation and the acquired one. Congenital retinoschisis comprises, in its turn, juvenile and linked with X-chromosome variants as well as retinoschisis observed in Goldman-Favre and Wagner syndromes. The group of acquired retinoschisis is made up of degenerative (senile) and myopic variants, which are triggered by the typical or cystic peripheral retinal degeneration. Secondary retinoschisis is observed in different eye diseases like trauma, diabetes, uveitis, angiomatosis etc. The central, peripheral and combined retinoschisis variations are distinguished according to localization; two variations are distinguished according to the disease clinical course, i.e. stationary with demarcation and complicated progressing without demarcation and with uneven borders. The study results show that retinoschisis of any variation begins at the extreme periphery; lamination of the flat type develops primarily in the lower-external quadrant and the one of the bullous type--in the upper-external quadrant.
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PMID:[Retinoschisis. 1. Diagnosis, classification, examination methods]. 1501 74