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Summary
MAJEED SYNDROME MJDS (LPIN2)
CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS
609628
OMIM = Online Medalian Inheritance of Men
77297
18p11.31
rare
autosomal recessive
mutation in the LPIN2 gene
symptoms
anemia
dermatitis
failure to thrive
hepatomegaly (large liver)
infections (severe or recurrent)
neutropenia (decreased neutrophils)
onset, childhood
onset, infancy
osteomyelitis
pain, bones or joints
puberty, delayed or missing
splenomegaly (large spleen)
laboratory finding
Hemoglobine decreasedblood
Literature
Prada CE,et al.Cardiac disease in methylmalonic acidemiaJ Pediatr1595862-8642011
Herrmann W,Obeid RCobalamin deficiencySubcell Biochem520301-3222012
Tanner SM,et al.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patternsOrphanet J Rare Dis7562012
Guez S,et al.Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancyBMC Pediatr1285852012