MCID: MJD001
MIFTS: 34

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 57 24 53 25 59 75 29 13 6 40 73
Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis 57 25
Mjds 57 75
Chronic Recurrent Multifocal Osteomyelitis-Congenital Dyserythropoietic Anemia-Neutrophilic Dermatosis Syndrome 59
Chronic Recurrent Multifocal Osteomyelitis with Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis 75
Congenital Dyserythropoietic Anemia and Chronic Recurrent Multifocal Osteomyelitis 53
Chronic Recurrent Multifocal Osteomyelitis, Congenital 53
Dyserythropoietic Anemia, and Neutrophilic Dermatosis 53
Cda and Crmo 53

Characteristics:

Orphanet epidemiological data:

59
majeed syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
majeed syndrome:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance is 100%...

Classifications:



Summaries for Majeed Syndrome

NIH Rare Diseases : 53 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.

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. An important gene associated with Majeed Syndrome is LPIN2 (Lipin 2). Affiliated tissues include neutrophil, skin and bone, and related phenotypes are proteinuria and edema

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

UniProtKB/Swiss-Prot : 75 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).

Wikipedia : 76 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 autosomal dominant cerebellar ataxia 10.0
5 osteomyelitis 9.9
6 dentatorubral-pallidoluysian atrophy 9.8
7 aceruloplasminemia 9.8
8 ataxia-oculomotor apraxia 3 9.8
9 sensory peripheral neuropathy 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:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
2 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
3 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
4 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
5 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
6 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
7 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
8 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
9 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
10 pulmonary infiltrates 59 32 occasional (7.5%) Occasional (29-5%) HP:0002113
11 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
12 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
13 bone pain 59 32 very rare (1%) Very frequent (99-80%) HP:0002653
14 increased susceptibility to fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002659
15 arthralgia 59 32 very rare (1%) Very frequent (99-80%) HP:0002829
16 microscopic hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002907
17 metaphyseal irregularity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003025
18 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
19 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
20 congenital hypoplastic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004810
21 hypochromic microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004840
22 abnormality of bone marrow cell morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005561
23 chronic recurrent multifocal osteomyelitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005901
24 increased bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0011001
25 inflammatory abnormality of the skin 59 32 Occasional (29-5%) HP:0011123
26 cough 59 32 occasional (7.5%) Occasional (29-5%) HP:0012735
27 synovitis 59 32 frequent (33%) Frequent (79-30%) HP:0100769
28 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
29 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
30 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
31 weight loss 59 Very frequent (99-80%)
32 abnormal inflammatory response 59 Very frequent (99-80%)
33 growth delay 32 HP:0001510
34 microcytic anemia 32 very rare (1%) HP:0001935
35 episodic fever 32 very rare (1%) HP:0001954
36 osteomyelitis 32 HP:0002754

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 29 LPIN2

Anatomical Context for Majeed Syndrome

MalaCards organs/tissues related to Majeed Syndrome:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 LPIN2 p.Ser734Leu VAR_023817 rs80338807

ClinVar genetic disease variations for Majeed Syndrome:

6
(show top 50) (show all 301)
# 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.2201C> T (p.Ser734Leu) single nucleotide variant Pathogenic rs80338807 GRCh38 Chromosome 18, 2922173: 2922173
3 LPIN2 NM_014646.2(LPIN2): c.540_541delAT (p.Cys181Terfs) deletion Pathogenic rs80338806 GRCh37 Chromosome 18, 2951102: 2951103
4 LPIN2 NM_014646.2(LPIN2): c.540_541delAT (p.Cys181Terfs) deletion Pathogenic rs80338806 GRCh38 Chromosome 18, 2951104: 2951105
5 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh37 Chromosome 18, 2922044: 2922044
6 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh38 Chromosome 18, 2922046: 2922046
7 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh37 Chromosome 18, 2931393: 2931394
8 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh38 Chromosome 18, 2931395: 2931396
9 LPIN2 NM_014646.2(LPIN2): c.2625G> A (p.Pro875=) single nucleotide variant Conflicting interpretations of pathogenicity rs187572602 GRCh37 Chromosome 18, 2920357: 2920357
10 LPIN2 NM_014646.2(LPIN2): c.2625G> A (p.Pro875=) single nucleotide variant Conflicting interpretations of pathogenicity rs187572602 GRCh38 Chromosome 18, 2920359: 2920359
11 LPIN2 NM_014646.2(LPIN2): c.2650C> T (p.Arg884Ter) single nucleotide variant Uncertain significance rs547662448 GRCh38 Chromosome 18, 2920334: 2920334
12 LPIN2 NM_014646.2(LPIN2): c.2650C> T (p.Arg884Ter) single nucleotide variant Uncertain significance rs547662448 GRCh37 Chromosome 18, 2920332: 2920332
13 LPIN2 NM_014646.2(LPIN2): c.2621G> T (p.Cys874Phe) single nucleotide variant Uncertain significance rs201160155 GRCh38 Chromosome 18, 2920363: 2920363
14 LPIN2 NM_014646.2(LPIN2): c.2621G> T (p.Cys874Phe) single nucleotide variant Uncertain significance rs201160155 GRCh37 Chromosome 18, 2920361: 2920361
15 LPIN2 NM_014646.2(LPIN2): c.2409G> C (p.Gln803His) single nucleotide variant Uncertain significance rs876660987 GRCh38 Chromosome 18, 2921566: 2921566
16 LPIN2 NM_014646.2(LPIN2): c.2409G> C (p.Gln803His) single nucleotide variant Uncertain significance rs876660987 GRCh37 Chromosome 18, 2921564: 2921564
17 LPIN2 NM_014646.2(LPIN2): c.1735T> C (p.Ser579Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150022314 GRCh37 Chromosome 18, 2926779: 2926779
18 LPIN2 NM_014646.2(LPIN2): c.1735T> C (p.Ser579Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150022314 GRCh38 Chromosome 18, 2926781: 2926781
19 LPIN2 NM_014646.2(LPIN2): c.1514T> C (p.Ile505Thr) single nucleotide variant Uncertain significance rs146424724 GRCh37 Chromosome 18, 2929099: 2929099
20 LPIN2 NM_014646.2(LPIN2): c.1514T> C (p.Ile505Thr) single nucleotide variant Uncertain significance rs146424724 GRCh38 Chromosome 18, 2929101: 2929101
21 LPIN2 NM_014646.2(LPIN2): c.1099G> A (p.Ala367Thr) single nucleotide variant Uncertain significance rs540544894 GRCh37 Chromosome 18, 2937759: 2937759
22 LPIN2 NM_014646.2(LPIN2): c.1099G> A (p.Ala367Thr) single nucleotide variant Uncertain significance rs540544894 GRCh38 Chromosome 18, 2937761: 2937761
23 LPIN2 NM_014646.2(LPIN2): c.608C> T (p.Ser203Phe) single nucleotide variant Likely benign rs144555528 GRCh38 Chromosome 18, 2940695: 2940695
24 LPIN2 NM_014646.2(LPIN2): c.608C> T (p.Ser203Phe) single nucleotide variant Likely benign rs144555528 GRCh37 Chromosome 18, 2940693: 2940693
25 LPIN2 NM_014646.2(LPIN2): c.1939-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs779830291 GRCh38 Chromosome 18, 2924551: 2924551
26 LPIN2 NM_014646.2(LPIN2): c.1939-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs779830291 GRCh37 Chromosome 18, 2924549: 2924549
27 LPIN2 NM_014646.2(LPIN2): c.1867C> T (p.Pro623Ser) single nucleotide variant Benign rs143090653 GRCh38 Chromosome 18, 2925295: 2925295
28 LPIN2 NM_014646.2(LPIN2): c.1867C> T (p.Pro623Ser) single nucleotide variant Benign rs143090653 GRCh37 Chromosome 18, 2925293: 2925293
29 LPIN2 NM_014646.2(LPIN2): c.*3C> T single nucleotide variant Benign rs3745012 GRCh38 Chromosome 18, 2920290: 2920290
30 LPIN2 NM_014646.2(LPIN2): c.*3C> T single nucleotide variant Benign rs3745012 GRCh37 Chromosome 18, 2920288: 2920288
31 LPIN2 NM_014646.2(LPIN2): c.*3068A> T single nucleotide variant Benign rs1985 GRCh38 Chromosome 18, 2917225: 2917225
32 LPIN2 NM_014646.2(LPIN2): c.*3068A> T single nucleotide variant Benign rs1985 GRCh37 Chromosome 18, 2917223: 2917223
33 LPIN2 NM_014646.2(LPIN2): c.*2999C> A single nucleotide variant Uncertain significance rs138807947 GRCh38 Chromosome 18, 2917294: 2917294
34 LPIN2 NM_014646.2(LPIN2): c.*2999C> A single nucleotide variant Uncertain significance rs138807947 GRCh37 Chromosome 18, 2917292: 2917292
35 LPIN2 NM_014646.2(LPIN2): c.*2833_*2834delCA deletion Uncertain significance rs886053740 GRCh38 Chromosome 18, 2917459: 2917460
36 LPIN2 NM_014646.2(LPIN2): c.*2833_*2834delCA deletion Uncertain significance rs886053740 GRCh37 Chromosome 18, 2917457: 2917458
37 LPIN2 NM_014646.2(LPIN2): c.*2787C> G single nucleotide variant Uncertain significance rs886053742 GRCh38 Chromosome 18, 2917506: 2917506
38 LPIN2 NM_014646.2(LPIN2): c.*2787C> G single nucleotide variant Uncertain significance rs886053742 GRCh37 Chromosome 18, 2917504: 2917504
39 LPIN2 NM_014646.2(LPIN2): c.*2724A> G single nucleotide variant Uncertain significance rs886053744 GRCh38 Chromosome 18, 2917569: 2917569
40 LPIN2 NM_014646.2(LPIN2): c.*2724A> G single nucleotide variant Uncertain significance rs886053744 GRCh37 Chromosome 18, 2917567: 2917567
41 LPIN2 NM_014646.2(LPIN2): c.*2493C> G single nucleotide variant Likely benign rs8091401 GRCh38 Chromosome 18, 2917800: 2917800
42 LPIN2 NM_014646.2(LPIN2): c.*2493C> G single nucleotide variant Likely benign rs8091401 GRCh37 Chromosome 18, 2917798: 2917798
43 LPIN2 NM_014646.2(LPIN2): c.*2412C> T single nucleotide variant Uncertain significance rs553336397 GRCh38 Chromosome 18, 2917881: 2917881
44 LPIN2 NM_014646.2(LPIN2): c.*2412C> T single nucleotide variant Uncertain significance rs553336397 GRCh37 Chromosome 18, 2917879: 2917879
45 LPIN2 NM_014646.2(LPIN2): c.*2197_*2198delTT deletion Likely benign rs55834965 GRCh38 Chromosome 18, 2918095: 2918096
46 LPIN2 NM_014646.2(LPIN2): c.*2197_*2198delTT deletion Likely benign rs55834965 GRCh37 Chromosome 18, 2918093: 2918094
47 LPIN2 NM_014646.2(LPIN2): c.*1502G> A single nucleotide variant Uncertain significance rs113346639 GRCh37 Chromosome 18, 2918789: 2918789
48 LPIN2 NM_014646.2(LPIN2): c.*1502G> A single nucleotide variant Uncertain significance rs113346639 GRCh38 Chromosome 18, 2918791: 2918791
49 LPIN2 NM_014646.2(LPIN2): c.*1220G> A single nucleotide variant Uncertain significance rs886053749 GRCh37 Chromosome 18, 2919071: 2919071
50 LPIN2 NM_014646.2(LPIN2): c.*1220G> A single nucleotide variant Uncertain significance rs886053749 GRCh38 Chromosome 18, 2919073: 2919073

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

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