LPIN2, lipin 2, 9663

N. diseases: 81; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. 31727123 2019
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Update on the genetics of nonbacterial osteomyelitis in humans. 29912021 2018
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE Mutations in human LPIN2 produce a disease known as Majeed syndrome, the clinical manifestations of which are ameliorated by strategies that block IL-1β or its receptor. 28031477 2017
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. 27860302 2017
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2.Long-term outcome is poor. 23087183 2013
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease BEFREE In a cohort of 38 patients with SAPHO we analyzed PSTPIP2 and 2 other candidate genes, NOD2/CARD15 (Crohn's disease occurs in about 10% of SAPHO patients), and LPIN2 (clinical similarities of SAPHO with Majeed syndrome). 20032092 2010
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 AlteredExpression disease BEFREE To characterize sites of lipin-2 action, we detected lipin-2 expression by in situ hybridization on whole mouse sections and by quantitative PCR of tissues relevant to Majeed syndrome. 19717560 2009
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease BEFREE A splice site mutation confirms the role of LPIN2 in Majeed syndrome. 17330256 2007
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND A splice site mutation confirms the role of LPIN2 in Majeed syndrome. 17330256 2007
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. 15994876 2005
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. 15994876 2005
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease UNIPROT We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. 15994876 2005
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 Biomarker disease CTD_human
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GermlineCausalMutation disease ORPHANET
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 CausalMutation disease CLINVAR
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.400 Biomarker disease GENOMICS_ENGLAND Efficacy of anti-IL-1 treatment in Majeed syndrome. 23087183 2013
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.400 Biomarker disease GENOMICS_ENGLAND Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.400 Biomarker disease HPO
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.310 Biomarker disease GENOMICS_ENGLAND Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2.Long-term outcome is poor. 23087183 2013
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.310 GeneticVariation disease BEFREE Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.310 Biomarker disease GENOMICS_ENGLAND Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. 27860302 2017
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.300 Biomarker disease GENOMICS_ENGLAND Efficacy of anti-IL-1 treatment in Majeed syndrome. 23087183 2013
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.300 Biomarker group GENOMICS_ENGLAND A splice site mutation confirms the role of LPIN2 in Majeed syndrome. 17330256 2007