MCID: MJD001
MIFTS: 35

Majeed Syndrome

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

Aliases & Classifications for Majeed Syndrome

MalaCards integrated aliases for Majeed Syndrome:

Name: Majeed Syndrome 53 23 49 24 55 71 28 13 69
Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis 53 24
Mjds 53 71
Chronic Recurrent Multifocal Osteomyelitis-Congenital Dyserythropoietic Anemia-Neutrophilic Dermatosis Syndrome 55
Chronic Recurrent Multifocal Osteomyelitis with Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis 71
Congenital Dyserythropoietic Anemia and Chronic Recurrent Multifocal Osteomyelitis 49
Chronic Recurrent Multifocal Osteomyelitis, Congenital 49
Dyserythropoietic Anemia, and Neutrophilic Dermatosis 49
Cda and Crmo 49

Characteristics:

Orphanet epidemiological data:

55
majeed syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

31
majeed syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



Summaries for Majeed Syndrome

NIH Rare Diseases : 49 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, and neutrophilic dermatosis, is related to machado-joseph disease and chronic recurrent multifocal osteomyelitis, and has symptoms including arthralgia, myalgia and cachexia. 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 : 24 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 machado-joseph disease 12.1
2 chronic recurrent multifocal osteomyelitis 11.4
3 brachydactylous dwarfism mseleni type 10.9
4 ataxia and polyneuropathy, adult-onset 10.1
5 autosomal dominant cerebellar ataxia 10.0
6 osteomyelitis 9.9
7 dentatorubral-pallidoluysian atrophy 9.8
8 aceruloplasminemia 9.8
9 ataxia-oculomotor apraxia 3 9.8
10 muscular atrophy 9.8
11 neuropathy 9.8
12 autonomic dysfunction 9.8

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:

55 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 very rare (1%) Very frequent (99-80%) HP:0002829
2 myalgia 55 31 frequent (33%) Frequent (79-30%) HP:0003326
3 cachexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004326
4 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
5 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
6 headache 55 31 frequent (33%) Frequent (79-30%) HP:0002315
7 bone pain 55 31 very rare (1%) Very frequent (99-80%) HP:0002653
8 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
9 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
10 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
11 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
12 flexion contracture 55 31 occasional (7.5%) Occasional (29-5%) HP:0001371
13 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
14 acne 55 31 frequent (33%) Frequent (79-30%) HP:0001061
15 glomerulopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100820
16 leukocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0001974
17 cough 55 31 occasional (7.5%) Occasional (29-5%) HP:0012735
18 increased bone mineral density 55 31 frequent (33%) Frequent (79-30%) HP:0011001
19 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
20 abnormality of bone marrow cell morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005561
21 pulmonary infiltrates 55 31 occasional (7.5%) Occasional (29-5%) HP:0002113
22 pustule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200039
23 increased susceptibility to fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002659
24 inflammatory abnormality of the skin 55 31 Occasional (29-5%) HP:0011123
25 microscopic hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0002907
26 synovitis 55 31 frequent (33%) Frequent (79-30%) HP:0100769
27 metaphyseal irregularity 55 31 hallmark (90%) Very frequent (99-80%) HP:0003025
28 hypochromic microcytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004840
29 congenital hypoplastic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0004810
30 chronic recurrent multifocal osteomyelitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005901
31 weight loss 55 Very frequent (99-80%)
32 growth delay 31 HP:0001510
33 microcytic anemia 31 very rare (1%) HP:0001935
34 osteomyelitis 31 HP:0002754
35 episodic fever 31 very rare (1%) HP:0001954
36 abnormal inflammatory response 55 Very frequent (99-80%)

Drugs & Therapeutics for Majeed Syndrome

Interventional clinical trials:


# 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:

# Genetic test Affiliating Genes
1 Majeed Syndrome 28 LPIN2

Anatomical Context for Majeed Syndrome

MalaCards organs/tissues related to Majeed Syndrome:

38
Neutrophil, Skin, Bone, Bone Marrow

Publications for Majeed Syndrome

Articles related to Majeed Syndrome:

# Title Authors Year
1
Efficacy of treatment with IL-1RA in Majeed syndrome. ( 27480788 )
2016
2
Phenotypic Variability in Majeed Syndrome. ( 27252506 )
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
# Symbol AA change Variation ID SNP ID
1 LPIN2 p.Ser734Leu VAR_023817 rs80338807

ClinVar genetic disease variations for Majeed Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh37 Chromosome 18, 2922044: 2922044
2 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh37 Chromosome 18, 2931393: 2931394
3 LPIN2 NM_014646.2(LPIN2): c.2201C> T (p.Ser734Leu) single nucleotide variant Pathogenic rs80338807 GRCh37 Chromosome 18, 2922171: 2922171
4 LPIN2 NM_014646.2(LPIN2): c.540_541delAT (p.Cys181Terfs) deletion Pathogenic rs80338806 GRCh37 Chromosome 18, 2951102: 2951103
5 LPIN2 NC_000018.10: g.(?_2921533)_(2938037_?)del deletion Likely pathogenic GRCh38 Chromosome 18, 2921533: 2938037

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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