Information on MJDS

Basic details

Name: Majeed syndrome | Acronym: MJDS
Alt. names: chronic recurrent multifocal osteomyelitis

Gene: LPIN2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2005

Last updated on: 2023-02-28 16:41:18 by

OMIM: 609628

Orphanet: -

MONDO: 0009813

DOID: -

ClinGen:

Description

Individuals may manifest with Chronic recurrent multifocal osteomyelitis (CRMO), for which treatment with NSAIDs/corticosteroids may be beneficial; Individuals may require surveillance and blood transfusion treatment for anemia. Refs. PMIDs: 11381255; 17011878; 17330256; 18055821; 20301735; 22559933; 22570351

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Erythroid hyperplasia	11 (99.9%)	0 (0.0%)
2	Arthralgia	6 (99.9%)	0 (0.0%)
3	Bone pain	6 (99.9%)	0 (0.0%)
4	elevated ESR	6 (99.9%)	0 (0.0%)
5	Recurrent fevers	6 (99.9%)	0 (0.0%)
6	Hepatosplenomegaly	5 (83.3%)	1 (16.7%)
7	Delayed skeletal maturation	4 (99.9%)	0 (0.0%)
8	Failure to thrive	4 (99.9%)	0 (0.0%)
9	Joint swelling	2 (99.9%)	0 (0.0%)
10	Skin rash	2 (33.3%)	4 (66.7%)
11	Delayed puberty	1 (50.0%)	1 (50.0%)
12	Microcytic anemia	1 (50.0%)	1 (50.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.