loading...| Preferred Name | Cystathionine beta-synthase deficiency | |
| Synonyms |
CBSD |
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| Definitions |
(CBSD) - An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. |
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| ID |
http://identifiers.org/omim/236200 |
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| altLabel |
CBSD |
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| definition |
(CBSD) - An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. |
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| id |
OMIM:236200 |
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| notation |
OMIM:236200 |
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| prefLabel |
Cystathionine beta-synthase deficiency |
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| subClassOf |