Das Raine-Syndrome ist eine autosomal rezessive Erkrankung, die durch Mutationen im FAM20C-Gen hervorgerufen wird. Die Erkrankung ist charakterisiert durch Hypophosphatämie und osteosklerotische Knochendysplasie. Aufgrund der schweren Störungen sind die Erkrankten oft nur wenige Wochen lebensfähig. Ältere Erkrankte, die nur durch ihre Hypophosphatämie auffielen sind aber auch beschrieben worden.
Hypophosphatämie | |
Beim Raine-Syndrom ist die Hypophosphatämie mit einer sklerotischen Knochenerkrankung vergesellschaftet. |
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Orphanet article Orphanet ID 1832 |
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OMIM.ORG article Omim 259775 |