" /> Osteopetrosis, autosomal recessive 5 - CISMeF





Preferred Label : Osteopetrosis, autosomal recessive 5;

Symbol : OPTB5;

CISMeF acronym : OPTB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, infantile malignant 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the osteopetrosis associated transmembrane protein 1 gene (OSTM1, 607649.0001);

Laboratory abnormalities : Hyperbilirubinemia; Elevated serum aspartate-aminotranferase (AST); Elevated serum lactate dehydrogenase (LDH); Elevated serum alanine-aminotransferase (ALT); Hypocalcemia, mild;

Prefixed ID : #259720;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.