Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three patients seen with similar findings of progressive systemic scleroderma. Two of the patients, a father and son, had very similar skin changes, sclerodactyly, Raynaud phenomenon, gastrointestinal involvement, and pulmonary symptoms. The three patients were from the highly inbred Brandywine triracial isolate. This isolate is a group of families who have been inbreeding since 1660 and now have the highest gene frequencies for sickle cell anemia and oculocutaneous albinism in the United States. There have been only a few reported cases of familial scleroderma and the hereditary aspect of the disease has not been well established. This report shows that the mortality for scleroderma in this isolate is at least 250 times the mortality of the general population, thus suggesting a probable genetic predisposition for the disease.
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PMID:Familial progressive systemic scleroderma. 111 27