Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a family with five members affected by Type 1 autoimmune polyendocrinopathy. All patients had chronic mucocutaneous candidiasis and dental abnormalities. Four patients had ocular abnormalities, four had hypoparathyroidism, and three had Addison's disease. The family was unusual in that all four affected females had premature ovarian failure. The ocular abnormalities included two patients with subcapsular lens opacities, one patient with asymptomatic corneal opacities, and one patient with severe bilateral iridocyclitis with cataract formation. One patient had pernicious anaemia and one had insulin dependent diabetes mellitus. All patients were negative on repeated occasions for organ specific and non-organ specific autoantibodies. Lymphocyte studies were performed in four patients. A deficiency of T suppressor cells was found in three and low normal levels were present in the fourth suggesting that the syndrome may be due to a defect in suppressor T cells.
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PMID:Unusual manifestations of type 1 autoimmune polyendocrinopathy. 918 92

Autoimmune polyendocrine syndrome type 1 (APS1) is a scarce polyendocrinopathy with autosomal recessive inheritance results from defects in the human autoimmune regulatory (AIRE) gene. In addition to three major manifestations of APS1 including mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, ophthalmic problems such as keratoconjunctivitis, dry eye, iridocyclitis, and cataract can be seen in these patients. In this article, we introduced two siblings presented with nail dystrophia, severe photophobia, and keratitis since early childhood which genetic examination revealed single nucleotide T>C translocation in their 2nd exon and heterozygous deletion mutation in their 12th exon.
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PMID:Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. 3261 66