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Other Names for this Disease
- CDA and CRMO
- Chronic recurrent multifocal osteomyelitis, congenital
- Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis
- Dyserythropoietic anemia, and neutrophilic dermatosis
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Majeed syndrome is caused by mutations in the LPIN2 gene. This gene provides instructions for making a protein called lipin-2. Researchers believe that this protein may play a role in the processing of fats. It may also be involved in controlling inflammation and play a role in cell division. Mutations in the LPIN2 gene alter the structure and function of lipin-2. It is unclear how these genetic changes lead to bone disease, anemia, and inflammation of the skin in people with Majeed syndrome.
Last updated: 10/31/2013
- Majeed syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/majeed-syndrome. Accessed 10/31/2013.