| H01117 | |
| H number | H01117 |
| Name | Chronic recurrent multifocal osteomyelitis; Majeed syndrome |
| Description | Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. It has been reported that mutations in LPIN2 are responsible for this syndrome. |
| Category | Immune system disease |
| Network | - |
| Gene | LPIN2 [HSA:9663] [KO:K15728] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A00.Y ICD-10: D89.8 MeSH: C537839 OMIM: 609628 |
| Reference | PMID:17330256 AUTHORS Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ TITLE A splice site mutation confirms the role of LPIN2 in Majeed syndrome. JOURNAL Arthritis Rheum 56:960-4 (2007) DOI:10.1002/art.22431 PMID:15994876 AUTHORS Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H TITLE Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). JOURNAL J Med Genet 42:551-7 (2005) DOI:10.1136/jmg.2005.030759 |