" /> Dent disease 2 - CISMeF





Preferred Label : Dent disease 2;

Symbol : DENT2;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the OCRL inositol polyphosphate-5-phosphatase gene (OCRL, 300535.0005);

Laboratory abnormalities : Low-molecular-weight proteinuria; Hypercalciuria; Aminoaciduria, mild (in some patients); Increased creatine kinase; Increased lactate dehydrogenase;

Prefixed ID : #300555;

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04/05/2025


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