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)

Hereditary osteodystrophy of Albright's is a set of hereditary dystrophies associated or not with renal and bony resistance to the parathyroid hormone. Two observations of a true brotherhood are reported. These two patients had in common: short stature, obesity (especially facio-troncular), round face, flat and saddled nose, short neck, early cataract and mental deficiency. One of them showed fourth metacarpals. In these two cases there were cutaneous ossifications, markedly profuse on one of them than the other. These ossifications are a frequent manifestation of the osteodystrophy of Albright's. They appear as cutaneous nodules on any part of the body and are visible, palpable and present on X-ray examination. These ossifications share other phenotypic expressions of the disease and do not seem to be related to the resistance against parathyroid hormone.
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PMID:[Albright's hereditary osteodystrophy with multiple cutaneous osteomas]. 652 78

The 26-year-old female patient presented Albright I hereditary osteodystrophy and zonular cataract, chronic tetany, hypothyroidism. The affection started since she was 3 year old. In the same family there are other 7 persons with hereditary osteodystrophy, from which one of the patient's brothers has Albright II syndrome. It is proved that the pseudoparathyroidism and the pseudopseudohypoparathyroidism are two clinical manifestations of the same affection. The cataract from Albright syndrome is determined by disturbances of the phosphocalcium metabolism and must be distinguished by other endocrine and congenital forms of cataract. The deficiency can be explained by a disturbance of renal function in the reabsorption of phosphates.
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PMID:[Albright's hereditary osteodystrophy I and cataract]. 776 87