Osteopetrosis, Autosomal Recessive 6 (OPTB6)

Osteopetrosis, Autosomal Recessive 6(来自ICD-11)

别称:

Autosomal Recessive Osteopetrosis 6

Optb6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis, Autosomal Recessive, Type 6

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopetrosis, Autosomal Recessive 6, also known as autosomal recessive osteopetrosis 6, is related to axial osteomalacia and fibrogenesis imperfecta ossium. An important gene associated with Osteopetrosis, Autosomal Recessive 6 is PLEKHM1 (Pleckstrin Homology And RUN Domain Containing M1), and among its related pathways/superpathways are Innate Immune System and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include bone and bone marrow, and related phenotypes are osteopetrosis and cortical sclerosis of the iliac wing

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