Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although osteoarthritis is characterized by a uniform pattern of clinical and radiological manifestations, it is a syndrome that can be produced by a variety of causative factors. Rare causes of osteoarthritis can be categorized as follows: 1) systemic metabolic disorders due to known biochemical and/or genetic abnormalities, such as hemochromatosis, ochronosis, Wilson's disease, Ehlers-Danlos syndrome (and probably the "idiopathic" joint hypermobility syndrome), sickle cell anemia, and thalassemia; 2) endocrine disorders, such as acromegaly, whose joint manifestations are now well-known, and hypothyroidism; 3) Paget's disease of bone, osteopetrosis (which induces changes in bone elasticity), and other systemic bone diseases; 4) dysplasias, which form a vast group including familial polyepiphyseal dysplasia, spondyloepiphyseal dysplasia congenita (especially its milder forms), Stickler's syndrome, osteo-onychodysplasia, Kniest's dysplasia, trichorhinopharyngeal syndrome, and a group of diseases that affect the epiphyses; 5) endemic forms of osteoarthritis, e.g., Mselini disease, Kashin-Beck disease, and Malnad disease, which are unknown in western Europe but have been reported to affect thousands of individuals in endemic areas. All these disorders are usually responsible for premature osteoarthritis, whose presentation sometimes bears the imprint of the causative abnormality but can be identical to that of common osteoarthritis. The effects of toxic substances (Kashin-Beck disease) or genetically-determined collagen II abnormalities (epiphyseal dysplasias) may explain the occurrence of these rare forms of premature osteoarthritis.
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PMID:[Osteoarthritis of rare etiology]. 785 7

Angioid streaks were first described by Doyne in 1889. Since that time histopathology and diagnostic methods have been greatly improved. Angioid streaks of the fundus are not apparent at birth. The earliest form is known as "peau d'orange". The end stage is disciform macular degeneration, helicoid peripapillary atrophy or diffuse choroidal sclerosis. Moreover, macular hemorrhage and precipitation of angioid streaks have frequently been noted after trauma. Angioid streaks have been described in a diverse group of diseases including pseudoxanthoma elasticum, Paget's disease, hemoglobinopathies such as sickle cell anemia and beta-thalassemia.
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PMID:[Angioid streaks. Pathogenesis and the clinical picture]. 883 55

We present the case of a 71-year-old patient with rugger-jersey vertebrae who was referred to us with a tentative diagnosis of Paget's disease. After considering other conditions causing similar bone sclerosis, such as metastases, lymphoma, renal osteodystrophy, myelofibrosis, thalassemia, and Gaucher's disease, we agreed on a diagnosis of osteopetrosis. This is a rare entity of genetic origin, manifest by variable generalized symmetric skeletal sclerosis caused by defective bone resorption.
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PMID:Rugger-jersey vertebrae. 1907 34