Majeed syndrome

Majeed syndrome
This condition is inherited in an autosomal recessive manner.
Specialty	Medical genetics
Frequency	0.0001%

Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis. It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical manifestations has not been elucidated.

Treatments

Treatments for this disorder are often based on what symptoms are present in the patient. Most commonly prescribed treatments include nonsteroidal anti-inflammatory drugs (NSAIDs), as well as physical therapy in order to prevent muscle atrophy in patients. Red blood transfusions could also be done for patients with severe congenital dyserythropoietic anemia (CDA).

Genetics

LPIN2
Identifiers
Aliases	LPIN2, lipin 2
External IDs	OMIM: 605519; MGI: 1891341; GeneCards: LPIN2
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 3.1.3.4 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 18 (human) Band 18p11.31 Start 2,916,994 bp End 3,013,144 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17|17 E1.3 Start 71,489,555 bp End 71,556,812 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa liver right lobe of liver duodenum secondary oocyte testicle pars compacta gonad blood tibia Top expressed in renal corpuscle primary oocyte right lung lobe left lobe of liver secondary oocyte medullary collecting duct zygote Rostral migratory stream retinal pigment epithelium Paneth cell More reference expression data BioGPS n/a
Gene ontology Molecular function hydrolase activity phosphatidate phosphatase activity transcription coactivator activity Cellular component cytoplasm cytosol endoplasmic reticulum membrane membrane endoplasmic reticulum nucleus Biological process fatty acid catabolic process regulation of transcription, DNA-templated lipid metabolism phosphatidylethanolamine biosynthetic process transcription, DNA-templated fatty acid metabolic process triglyceride biosynthetic process phosphatidylcholine biosynthetic process dephosphorylation positive regulation of transcription by RNA polymerase II cellular response to insulin stimulus Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 9663 64898 Ensembl ENSG00000101577 ENSMUSG00000024052 UniProt Q92539 Q99PI5 RefSeq (mRNA) NM_014646 NM_001375808 NM_001375809 NM_001164885 NM_022882 NM_001357791 RefSeq (protein) NP_055461 NP_001362737 NP_001362738 NP_001158357 NP_075020 NP_001344720 Location (UCSC) Chr 18: 2.92 – 3.01 Mb Chr 17: 71.49 – 71.56 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Majeed syndrome is caused by pathogenic mutations in the gene LPIN2, though related CRMO disorders have been associated with the genes IL1RN and IL1R1. LPIN2 encodes a phosphatidate phosphatase enzyme called Lipin-2, which mouse studies suggest converts phosphatidic acid to diglyceride as part of certain types of lipid synthesis.

See also

• TNF receptor associated periodic syndrome
• List of cutaneous conditions

References

External links

• Orphanet syndrome Majeed syndrome