Osteopetrosis, Autosomal Recessive 2 (OPTB2)

Alias:

Osteopetrosis, Mild Autosomal Recessive Form

Autosomal Recessive Osteopetrosis 2

Optb2

Osteopetrosis, Osteoclast-Poor

Osteoclast-Poor Osteopetrosis

Mild Autosomal Recessive Form Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopetrosis, Autosomal Recessive 2, also known as osteopetrosis, mild autosomal recessive form, is related to osteopetrosis, autosomal recessive 7 and dysosteosclerosis. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are CNTF Signaling and NF-kappaB Signaling. Affiliated tissues include bone and bone marrow, and related phenotypes are anemia and hepatosplenomegaly

Related ID：

MALACARDS：OST129

OMIM：259710

MESH：D010022