loading...| Preferred Name | Majeed Syndrome | |
| Synonyms |
PathwayType: signaling PMID: 24359092 Organ: skin CellType: macrophage Tissue: adipose tissue Organ: bone CellType: adipocyte Notes: Headnote: Majeed syndrome is an autoinflammatory disorder with chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. Majeed syndrome is typically more severe compared to sporadic CRMO (Chronic Recurrent Multifocal Osteomyelitis) and may be accompanied by recurrent fevers. Majeed syndrome has an autosomal-recessive mode of inheritance and is linked to mutations in the LPIN2 gene, which encodes the lipin 2 protein, expressed in the liver, kidneys, gastrointestinal system, lymphoid tissues, and the bone marrow. Signaling description: Lipin 2 is a phosphatidate phosphatase which plays a role in lipid metabolism, and its role in the control of inflammatory responses is not completely established. Based on findings in the field of obesity-induced chronic inflammation, it has been suggested that fatty acids induce a pro-inflammatory phenotype through the toll-like receptors (TLR) 2 and 4 stimulation which results in the activation of MAPKs, particularly MAPK8, and the induction of the NLRP3 inflammasome. Outcome effects: Cells with increased lipin 2 expression fail to produce pro-inflammatory cytokines, whereas reduced lipin 2 expression mediates increased expression of TNF, IL6, and CCL2. The phosphatase activity of lipin 2 is completely abolished in Majeed patients carrying the LPIN2 mutation, which leads to increased inflammatory responses. Highlighted proteins: Entities with increased expression or activity are highlighted in red, and entities with decreased expression or activity are highlighted in blue. Mutated genes: Mutated gene is shown in white-out style. Description: Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. Pathway is built manually using published studies. Tissue: bone tissue CellType: mast cell NodeType: Pathway CellType: dendritic cell Organ_System: skeletal system Tissue: epidermis Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-f80f7234-e117-4064-a1cc-164e5802f097 PMID: 23087183 PMID: 22334674 Source: Diseases |
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urn:agi-pathway:uuid-f80f7234-e117-4064-a1cc-164e5802f097 |
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PS:PathwayType PS:Description PS:Tissue PS:Pathway_Author PS:Link PS:CellType PS:Organ_System PS:PMID PS:NodeType PS:Notes PS:Organ PS:Source |
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PathwayType: signaling PMID: 24359092 Organ: skin CellType: macrophage Tissue: adipose tissue Organ: bone CellType: adipocyte Notes: Headnote: Majeed syndrome is an autoinflammatory disorder with chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. Majeed syndrome is typically more severe compared to sporadic CRMO (Chronic Recurrent Multifocal Osteomyelitis) and may be accompanied by recurrent fevers. Majeed syndrome has an autosomal-recessive mode of inheritance and is linked to mutations in the LPIN2 gene, which encodes the lipin 2 protein, expressed in the liver, kidneys, gastrointestinal system, lymphoid tissues, and the bone marrow. Signaling description: Lipin 2 is a phosphatidate phosphatase which plays a role in lipid metabolism, and its role in the control of inflammatory responses is not completely established. Based on findings in the field of obesity-induced chronic inflammation, it has been suggested that fatty acids induce a pro-inflammatory phenotype through the toll-like receptors (TLR) 2 and 4 stimulation which results in the activation of MAPKs, particularly MAPK8, and the induction of the NLRP3 inflammasome. Outcome effects: Cells with increased lipin 2 expression fail to produce pro-inflammatory cytokines, whereas reduced lipin 2 expression mediates increased expression of TNF, IL6, and CCL2. The phosphatase activity of lipin 2 is completely abolished in Majeed patients carrying the LPIN2 mutation, which leads to increased inflammatory responses. Highlighted proteins: Entities with increased expression or activity are highlighted in red, and entities with decreased expression or activity are highlighted in blue. Mutated genes: Mutated gene is shown in white-out style. Description: Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. Pathway is built manually using published studies. Tissue: bone tissue CellType: mast cell NodeType: Pathway CellType: dendritic cell Organ_System: skeletal system Tissue: epidermis Pathway_Author: V. Sobolev ORCID:0000-0003-4779-156X PMID: 23087183 PMID: 22334674 Source: Diseases |
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urn:agi-pathway:uuid-f80f7234-e117-4064-a1cc-164e5802f097 |
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| label |
Majeed Syndrome |
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| notation |
uuid-f80f7234-e117-4064-a1cc-164e5802f097 |
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| prefLabel |
Majeed Syndrome |
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| treeView |
urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:adipose_tissue urn:agi-folder:m urn:agi-folder:epidermis urn:agi-folder:bone_tissue urn:agi-folder:skeletal_system |
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| subClassOf |
urn:agi-folder:hereditary_autoinflammatory_diseases urn:agi-folder:adipose_tissue urn:agi-folder:m urn:agi-folder:epidermis urn:agi-folder:bone_tissue urn:agi-folder:skeletal_system |