Majeed syndrome

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Majeed syndrome2016-11-27T04:09:50+00:00

Majeed syndrome

GENETICS, HAEMATOLOGY 

Definition An über rare autosomal recessive condition (OMIM:609628) characterised by chronic recurrent multifocal osteomyelitis of early onset, congenital dyserythropoietic anaemia presenting as hypochromic, microcytic anemia, ranging from mild to transfusion-dependent, in the first year of life, and transient inflammatory dermatosis manifesting as Sweet syndrome (neutrophilic dermal infiltration). 

Molecular pathology Defects of LPIN2, which encodes a phosphatase that plays a role in adipose tissue development and triglyceride metabolism, cause Majeed syndrome. 

Synonyms Chronic recurrent multifocal osteomyelitis—congenital dyserythropoietic anaemia—and neutrophilic dermatosis

References http://www.uniprot.org/uniprot/Q92539

http://www.omim.org/entry/609628

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