Osteopetrosis, Autosomal Dominant 2 (OPTA2)

Alias:

Osteopetrosis Autosomal Dominant Type 2

Autosomal Dominant Osteopetrosis 2

Opta2

Autosomal Dominant Albers-Schonberg Disease

Osteopetrosis, Autosomal Dominant, Type Ii

Albers-Schonberg Osteopetrosis

Osteopetrosis

Albers-Schonberg Disease, Autosomal Dominant

Osteopetrosis, Autosomal Dominant, Type 2

Autosomal Dominant Osteopetrosis Type Ii

Osteosclerosis Fragilis Generalisata

Marble Disease Autosomal Dominant

Marble Bones, Autosomal Dominant

Albers-Schönberg Osteopetrosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteopetrosis, Autosomal Dominant 2, also known as osteopetrosis autosomal dominant type 2, is related to osteopetrosis, autosomal recessive 7 and osteopetrosis, autosomal dominant 1. An important gene associated with Osteopetrosis, Autosomal Dominant 2 is CLCN7 (Chloride Voltage-Gated Channel 7), and among its related pathways/superpathways are Vitamin D receptor pathway and Clock-controlled autophagy in bone metabolism. The drugs Methotrexate and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and frontal bossing

Related ID：

MALACARDS：OST131

OMIM：166600

MESH：D010022