KEGG   DISEASE: Chronic recurrent multifocal osteomyelitis
Entry
H01117                      Disease                                

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
Inherited metabolic disease; Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01117  Chronic recurrent multifocal osteomyelitis
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H01117  Chronic recurrent multifocal osteomyelitis
Pathway
hsa00561  Glycerolipid metabolism
hsa00564  Glycerophospholipid metabolism
Gene
LPIN2 [HSA:9663] [KO:K15728]
Other DBs
ICD-11: 4A00.Y
ICD-10: D89.8
MeSH: C537839
OMIM: 609628
Reference
  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
Reference
  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
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