Details of Disease | DrugMAP

General Information of Disease (ID: DIS8AI2U)

Disease Name	Majeed syndrome
Synonyms	congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis; MAJEED syndrome; dyserythropoietic anemia, and neutrophilic dermatosis; CDA and CRMO; chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis; chronic recurrent multifocal osteomyelitis, congenital; congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis; MJDS; Majeed syndrome; chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Definition	Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.
Disease Hierarchy	DIST1OU2: Chronic recurrent multifocal osteomyelitis DIS8AI2U: Majeed syndrome
Disease Identifiers	MONDO ID MONDO_0012316 MESH ID C537839 UMLS CUI C1864997 OMIM ID 609628 MedGen ID 351273 Orphanet ID 77297 SNOMED CT ID 703540008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBLIM1	OTFHXMON	Limited	Biomarker	[1]
CAPS	OTC9GZ2M	Strong	Biomarker	[2]
LACC1	OT4SBHI8	Strong	Biomarker	[2]
LPIN2	OTRRTMXX	Strong	Autosomal recessive	[3]
PSTPIP2	OTG6F93V	Strong	Biomarker	[4]
SH3BP2	OT90JNBS	Strong	Genetic Variation	[5]
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⏷ Show the Full List of 6 DOT(s)

References

1	Update on the genetics of nonbacterial osteomyelitis in humans.Curr Opin Rheumatol. 2018 Sep;30(5):521-525. doi: 10.1097/BOR.0000000000000530.
2	Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).Rheumatol Int. 2020 Jan;40(1):49-56. doi: 10.1007/s00296-019-04478-3. Epub 2019 Nov 18.
3	Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005 Jul;42(7):551-7. doi: 10.1136/jmg.2005.030759.
4	Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.J Rheumatol. 2010 Feb;37(2):401-9. doi: 10.3899/jrheum.090456. Epub 2009 Dec 23.
5	Autoinflammatory bone disorders.Curr Opin Rheumatol. 2007 Sep;19(5):492-8. doi: 10.1097/BOR.0b013e32825f5492.