MCID: MJD001
MIFTS: 35

Majeed Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Blood diseases

Aliases & Classifications for Majeed Syndrome

MalaCards integrated aliases for Majeed Syndrome:

Name: Majeed Syndrome 54 23 50 24 25 56 71 29 13 69
Chronic Recurrent Multifocal Osteomyelitis-Congenital Dyserythropoietic Anemia-Neutrophilic Dermatosis Syndrome 56
Chronic Recurrent Multifocal Osteomyelitis with Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis 71
Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis 25
Congenital Dyserythropoietic Anemia and Chronic Recurrent Multifocal Osteomyelitis 50
Chronic Recurrent Multifocal Osteomyelitis, Congenital 50
Dyserythropoietic Anemia, and Neutrophilic Dermatosis 50
Cda and Crmo 50
Mjds 71

Characteristics:

Orphanet epidemiological data:

56
majeed syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
majeed syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



Summaries for Majeed Syndrome

NIH Rare Diseases : 50 majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. the two main features of this condition are chronic recurrent multifocal osteomyelitis (crmo) and congenital dyserythropoietic anemia (cda). crmo causes recurrent episodes of pain and joint swelling which can lead to complications such as slow growth and the development of joint deformities called contractures. cda involves a shortage of red blood cells which can lead to fatigue (tiredness), weakness, pale skin, and shortness of breath. most people with majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as sweet syndrome. majeed syndrome results from mutations in the lpin2 gene. this condition is inherited in an autosomal recessive pattern. last updated: 10/31/2013

MalaCards based summary : Majeed Syndrome, also known as chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome, is related to machado-joseph disease and chronic recurrent multifocal osteomyelitis, and has symptoms including failure to thrive, acne and headache. An important gene associated with Majeed Syndrome is LPIN2 (Lipin 2). Affiliated tissues include neutrophil, skin and bone.

UniProtKB/Swiss-Prot : 71 Majeed syndrome: An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration).

Genetics Home Reference : 25 Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin.

Wikipedia : 72 Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal... more...

Description from OMIM: 609628
GeneReviews: NBK1974

Related Diseases for Majeed Syndrome

Diseases related to Majeed Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 machado-joseph disease 12.0
2 chronic recurrent multifocal osteomyelitis 11.3
3 brachydactylous dwarfism mseleni type 10.8
4 ataxia 10.0
5 osteomyelitis 9.8
6 cerebellar ataxia 9.7
7 muscular atrophy 9.7
8 neuropathy 9.7
9 autonomic dysfunction 9.7

Graphical network of the top 20 diseases related to Majeed Syndrome:



Diseases related to Majeed Syndrome

Symptoms & Phenotypes for Majeed Syndrome

Clinical features from OMIM:

609628

Human phenotypes related to Majeed Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
2 acne 56 32 frequent (33%) Frequent (79-30%) HP:0001061
3 headache 56 32 frequent (33%) Frequent (79-30%) HP:0002315
4 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
5 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
6 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
7 myalgia 56 32 frequent (33%) Frequent (79-30%) HP:0003326
8 bone pain 56 32 very rare (1%) Very frequent (99-80%) HP:0002653
9 fever 56 32 hallmark (90%) Very frequent (99-80%) HP:0001945
10 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
11 cough 56 32 occasional (7.5%) Occasional (29-5%) HP:0012735
12 edema 56 32 frequent (33%) Frequent (79-30%) HP:0000969
13 microscopic hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0002907
14 arthralgia 56 32 very rare (1%) Very frequent (99-80%) HP:0002829
15 pulmonary infiltrates 56 32 occasional (7.5%) Occasional (29-5%) HP:0002113
16 leukocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001974
17 increased susceptibility to fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002659
18 cachexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004326
19 congenital hypoplastic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004810
20 metaphyseal irregularity 56 32 hallmark (90%) Very frequent (99-80%) HP:0003025
21 increased bone mineral density 56 32 frequent (33%) Frequent (79-30%) HP:0011001
22 chronic recurrent multifocal osteomyelitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005901
23 flexion contracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0001371
24 glomerulopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0100820
25 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
26 abnormality of bone marrow cell morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005561
27 pustule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200039
28 inflammatory abnormality of the skin 56 32 Occasional (29-5%) HP:0011123
29 synovitis 56 32 frequent (33%) Frequent (79-30%) HP:0100769
30 hypochromic microcytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004840
31 osteomyelitis 32 HP:0002754
32 weight loss 56 Very frequent (99-80%)
33 microcytic anemia 32 very rare (1%) HP:0001935
34 growth delay 32 HP:0001510
35 episodic fever 32 very rare (1%) HP:0001954
36 abnormal inflammatory response 56 Very frequent (99-80%)

Drugs & Therapeutics for Majeed Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Factors Completed NCT00933296

Search NIH Clinical Center for Majeed Syndrome

Genetic Tests for Majeed Syndrome

Genetic tests related to Majeed Syndrome:

id Genetic test Affiliating Genes
1 Majeed Syndrome 29 24 LPIN2

Anatomical Context for Majeed Syndrome

MalaCards organs/tissues related to Majeed Syndrome:

39
Neutrophil, Skin, Bone, Bone Marrow

Publications for Majeed Syndrome

Articles related to Majeed Syndrome:

id Title Authors Year
1
Phenotypic Variability in Majeed Syndrome. ( 27252506 )
2016
2
Efficacy of treatment with IL-1RA in Majeed syndrome. ( 27480788 )
2016
3
Efficacy of anti-IL-1 treatment in Majeed syndrome. ( 23087183 )
2013
4
A splice site mutation confirms the role of LPIN2 in Majeed syndrome. ( 17330256 )
2007
5
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). ( 15994876 )
2005
6
Majeed Syndrome ( 20301735 )
1993

Variations for Majeed Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Majeed Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 LPIN2 p.Ser734Leu VAR_023817 rs80338807

ClinVar genetic disease variations for Majeed Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LPIN2 NM_014646.2(LPIN2): c.2201C> T (p.Ser734Leu) single nucleotide variant Pathogenic rs80338807 GRCh37 Chromosome 18, 2922171: 2922171
2 LPIN2 NM_014646.2(LPIN2): c.540_541delAT (p.Cys181Terfs) deletion Pathogenic rs80338806 GRCh37 Chromosome 18, 2951102: 2951103
3 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh37 Chromosome 18, 2922044: 2922044
4 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh37 Chromosome 18, 2931393: 2931394

Expression for Majeed Syndrome

Search GEO for disease gene expression data for Majeed Syndrome.

Pathways for Majeed Syndrome

GO Terms for Majeed Syndrome

Sources for Majeed Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....