" /> Bcard syndrome - CISMeF





Preferred Label : Bcard syndrome;

Symbol : BCARD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lysyl hydroxylase 3 deficiency; Lh3 deficiency; Bone abnormalities, cataract, arterial rupture, and deafness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene (PLOD3, 603066.0001);

Laboratory abnormalities : Abnormal urinary collagen-derived pyridinium crosslinks (absent Glc-Gal-PYD); Decreased serum glucosyltransferase (GGT) activity;

Prefixed ID : #612394;

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03/05/2025


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