Osteopetrosis, Autosomal Recessive 7 (OPTB7)

Alias:

Autosomal Recessive Osteopetrosis 7

Autosomal Recessive Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia

Osteopetrosis-Hypogammaglobulinemia Syndrome

Autosomal Recessive Osteopetrosis Type 7

Optb7

Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia

Osteopetrosis, Osteoclast-Poor, with Hypogammaglobulinemia

Osteopetrosis, Autosomal Recessive, Type 7

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopetrosis, Autosomal Recessive 7, also known as autosomal recessive osteopetrosis 7, is related to bone disease and osteopetrosis, autosomal recessive 2. An important gene associated with Osteopetrosis, Autosomal Recessive 7 is TNFRSF11A (TNF Receptor Superfamily Member 11a), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include bone and bone marrow, and related phenotypes are progressive visual loss and osteopetrosis

Related ID：

MALACARDS：OST136

OMIM：612301

MESH：D010022