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MJDS
MCID: MJD001
MIFTS: 34

Majeed Syndrome (MJDS)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Majeed Syndrome

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


Sources

Summaries for Majeed Syndrome

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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 failure to thrive and splenomegaly

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
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Related Diseases for Majeed Syndrome

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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 12.2
2 chronic recurrent multifocal osteomyelitis 11.6
3 brachydactylous dwarfism mseleni type 11.1
4 neutrophilic dermatosis, acute febrile 10.3
5 congenital dyserythropoietic anemia 10.3
6 aceruloplasminemia 10.2
7 autosomal dominant cerebellar ataxia 10.2
8 osteomyelitis 10.1
9 dentatorubral-pallidoluysian atrophy 10.0
10 sensory peripheral neuropathy 10.0
11 muscular atrophy 10.0
12 neuropathy 10.0

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



Diseases related to Majeed Syndrome
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Symptoms & Phenotypes for Majeed Syndrome

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

Drugs & Therapeutics for Majeed Syndrome

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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

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Genetic Tests for Majeed Syndrome

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Genetic tests related to Majeed Syndrome:

# Genetic test Affiliating Genes
1 Majeed Syndrome 29 LPIN2
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Anatomical Context for Majeed Syndrome

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MalaCards organs/tissues related to Majeed Syndrome:

41
Neutrophil, Skin, Bone, Bone Marrow
Sources

Publications for Majeed Syndrome

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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
Sources

Variations for Majeed Syndrome

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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 339)
# 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.1043C> T (p.Pro348Leu) single nucleotide variant Benign/Likely benign rs34676691 GRCh37 Chromosome 18, 2937815: 2937815
6 LPIN2 NM_014646.2(LPIN2): c.1043C> T (p.Pro348Leu) single nucleotide variant Benign/Likely benign rs34676691 GRCh38 Chromosome 18, 2937817: 2937817
7 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh37 Chromosome 18, 2922044: 2922044
8 LPIN2 NM_014646.2(LPIN2): c.2327+1G> C single nucleotide variant Pathogenic rs80338808 GRCh38 Chromosome 18, 2922046: 2922046
9 LPIN2 NM_014646.2(LPIN2): c.991G> T (p.Ala331Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80338805 GRCh37 Chromosome 18, 2937867: 2937867
10 LPIN2 NM_014646.2(LPIN2): c.991G> T (p.Ala331Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs80338805 GRCh38 Chromosome 18, 2937869: 2937869
11 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh37 Chromosome 18, 2931393: 2931394
12 LPIN2 NM_014646.2(LPIN2): c.1316_1317delCT (p.Ser439Trpfs) deletion Pathogenic rs318240736 GRCh38 Chromosome 18, 2931395: 2931396
13 LPIN2 NM_014646.2(LPIN2): c.1159A> G (p.Lys387Glu) single nucleotide variant Benign/Likely benign rs104895501 GRCh37 Chromosome 18, 2937699: 2937699
14 LPIN2 NM_014646.2(LPIN2): c.1159A> G (p.Lys387Glu) single nucleotide variant Benign/Likely benign rs104895501 GRCh38 Chromosome 18, 2937701: 2937701
15 LPIN2 NM_014646.2(LPIN2): c.1510C> T (p.Leu504Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs104895500 GRCh37 Chromosome 18, 2929103: 2929103
16 LPIN2 NM_014646.2(LPIN2): c.1510C> T (p.Leu504Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs104895500 GRCh38 Chromosome 18, 2929105: 2929105
17 LPIN2 NM_014646.2(LPIN2): c.2223C> T (p.Ala741=) single nucleotide variant Conflicting interpretations of pathogenicity rs17555442 GRCh37 Chromosome 18, 2922149: 2922149
18 LPIN2 NM_014646.2(LPIN2): c.2223C> T (p.Ala741=) single nucleotide variant Conflicting interpretations of pathogenicity rs17555442 GRCh38 Chromosome 18, 2922151: 2922151
19 LPIN2 NM_014646.2(LPIN2): c.120T> C (p.Asp40=) single nucleotide variant Benign rs143261167 GRCh38 Chromosome 18, 2960721: 2960721
20 LPIN2 NM_014646.2(LPIN2): c.120T> C (p.Asp40=) single nucleotide variant Benign rs143261167 GRCh37 Chromosome 18, 2960719: 2960719
21 LPIN2 NM_014646.2(LPIN2): c.147C> T (p.His49=) single nucleotide variant Conflicting interpretations of pathogenicity rs17886056 GRCh38 Chromosome 18, 2960694: 2960694
22 LPIN2 NM_014646.2(LPIN2): c.147C> T (p.His49=) single nucleotide variant Conflicting interpretations of pathogenicity rs17886056 GRCh37 Chromosome 18, 2960692: 2960692
23 LPIN2 NM_014646.2(LPIN2): c.1801G> A (p.Glu601Lys) single nucleotide variant Benign/Likely benign rs61735393 GRCh38 Chromosome 18, 2925361: 2925361
24 LPIN2 NM_014646.2(LPIN2): c.1801G> A (p.Glu601Lys) single nucleotide variant Benign/Likely benign rs61735393 GRCh37 Chromosome 18, 2925359: 2925359
25 LPIN2 NM_014646.2(LPIN2): c.2443-9C> T single nucleotide variant Benign/Likely benign rs191749331 GRCh38 Chromosome 18, 2920890: 2920890
26 LPIN2 NM_014646.2(LPIN2): c.2443-9C> T single nucleotide variant Benign/Likely benign rs191749331 GRCh37 Chromosome 18, 2920888: 2920888
27 LPIN2 NM_014646.2(LPIN2): c.2625G> A (p.Pro875=) single nucleotide variant Conflicting interpretations of pathogenicity rs187572602 GRCh37 Chromosome 18, 2920357: 2920357
28 LPIN2 NM_014646.2(LPIN2): c.2625G> A (p.Pro875=) single nucleotide variant Conflicting interpretations of pathogenicity rs187572602 GRCh38 Chromosome 18, 2920359: 2920359
29 LPIN2 NM_014646.2(LPIN2): c.2650C> T (p.Arg884Ter) single nucleotide variant Uncertain significance rs547662448 GRCh38 Chromosome 18, 2920334: 2920334
30 LPIN2 NM_014646.2(LPIN2): c.2650C> T (p.Arg884Ter) single nucleotide variant Uncertain significance rs547662448 GRCh37 Chromosome 18, 2920332: 2920332
31 LPIN2 NM_014646.2(LPIN2): c.2621G> T (p.Cys874Phe) single nucleotide variant Uncertain significance rs201160155 GRCh38 Chromosome 18, 2920363: 2920363
32 LPIN2 NM_014646.2(LPIN2): c.2621G> T (p.Cys874Phe) single nucleotide variant Uncertain significance rs201160155 GRCh37 Chromosome 18, 2920361: 2920361
33 LPIN2 NM_014646.2(LPIN2): c.2409G> C (p.Gln803His) single nucleotide variant Uncertain significance rs876660987 GRCh38 Chromosome 18, 2921566: 2921566
34 LPIN2 NM_014646.2(LPIN2): c.2409G> C (p.Gln803His) single nucleotide variant Uncertain significance rs876660987 GRCh37 Chromosome 18, 2921564: 2921564
35 LPIN2 NM_014646.2(LPIN2): c.1735T> C (p.Ser579Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150022314 GRCh37 Chromosome 18, 2926779: 2926779
36 LPIN2 NM_014646.2(LPIN2): c.1735T> C (p.Ser579Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs150022314 GRCh38 Chromosome 18, 2926781: 2926781
37 LPIN2 NM_014646.2(LPIN2): c.1514T> C (p.Ile505Thr) single nucleotide variant Uncertain significance rs146424724 GRCh37 Chromosome 18, 2929099: 2929099
38 LPIN2 NM_014646.2(LPIN2): c.1514T> C (p.Ile505Thr) single nucleotide variant Uncertain significance rs146424724 GRCh38 Chromosome 18, 2929101: 2929101
39 LPIN2 NM_014646.2(LPIN2): c.1099G> A (p.Ala367Thr) single nucleotide variant Uncertain significance rs540544894 GRCh37 Chromosome 18, 2937759: 2937759
40 LPIN2 NM_014646.2(LPIN2): c.1099G> A (p.Ala367Thr) single nucleotide variant Uncertain significance rs540544894 GRCh38 Chromosome 18, 2937761: 2937761
41 LPIN2 NM_014646.2(LPIN2): c.608C> T (p.Ser203Phe) single nucleotide variant Likely benign rs144555528 GRCh38 Chromosome 18, 2940695: 2940695
42 LPIN2 NM_014646.2(LPIN2): c.608C> T (p.Ser203Phe) single nucleotide variant Likely benign rs144555528 GRCh37 Chromosome 18, 2940693: 2940693
43 LPIN2 NM_014646.2(LPIN2): c.1939-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs779830291 GRCh38 Chromosome 18, 2924551: 2924551
44 LPIN2 NM_014646.2(LPIN2): c.1939-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs779830291 GRCh37 Chromosome 18, 2924549: 2924549
45 LPIN2 NM_014646.2(LPIN2): c.1867C> T (p.Pro623Ser) single nucleotide variant Benign rs143090653 GRCh38 Chromosome 18, 2925295: 2925295
46 LPIN2 NM_014646.2(LPIN2): c.1867C> T (p.Pro623Ser) single nucleotide variant Benign rs143090653 GRCh37 Chromosome 18, 2925293: 2925293
47 LPIN2 NM_014646.2(LPIN2): c.*3C> T single nucleotide variant Benign rs3745012 GRCh38 Chromosome 18, 2920290: 2920290
48 LPIN2 NM_014646.2(LPIN2): c.*3C> T single nucleotide variant Benign rs3745012 GRCh37 Chromosome 18, 2920288: 2920288
49 LPIN2 NM_014646.2(LPIN2): c.*3068A> T single nucleotide variant Benign rs1985 GRCh38 Chromosome 18, 2917225: 2917225
50 LPIN2 NM_014646.2(LPIN2): c.*3068A> T single nucleotide variant Benign rs1985 GRCh37 Chromosome 18, 2917223: 2917223
Sources

Expression for Majeed Syndrome

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Search GEO for disease gene expression data for Majeed Syndrome.
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Pathways for Majeed Syndrome

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GO Terms for Majeed Syndrome

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Sources for Majeed Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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