MAJEED SYNDROME; MJDS (LPIN2)

Question 1

What is  MAJEED SYNDROME; MJDS (LPIN2)?

Accepted Answer

rare
autosomal recessive
mutation in the LPIN2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Majeed-Syndrom; Osteomyelitis, chronische multifokale rezidivierende - kongenitale dyserythropoetische Anämie - neutrop

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609628

Question 4

Which enzymes are involved?

Accepted Answer

Phosphatidate phosphatase LPIN2

Disease	MAJEED SYNDROME; MJDS (LPIN2)
Synonym	CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS, CONGENITAL DYSERYTHROPOIETIC ANEMIA, AND NEUTROPHILIC DERMATOSIS
OMIM	609628 OMIM = Online Mendelian Inheritance of Men
Orphanet	77297
Protein (UniProt)	Phosphatidate phosphatase LPIN2
Gene locus	18p11.31
ICD
Summary	rare autosomal recessive mutation in the LPIN2 gene
Laboratory findings	Hemoglobine dec (blood)
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)