MJDS
MCID: MJD001
MIFTS: 39

Majeed Syndrome (MJDS)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Majeed Syndrome

MalaCards integrated aliases for Majeed Syndrome:

Name: Majeed Syndrome 57 19 42 58 73 28 12 5 38 71 75
Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis 57 42
Mjds 57 73
Chronic Recurrent Multifocal Osteomyelitis-Congenital Dyserythropoietic Anemia-Neutrophilic Dermatosis Syndrome 58
Chronic Recurrent Multifocal Osteomyelitis with Congenital Dyserythropoietic Anemia and Neutrophilic Dermatosis 73
Congenital Dyserythropoietic Anemia and Chronic Recurrent Multifocal Osteomyelitis 19
Chronic Recurrent Multifocal Osteomyelitis, Congenital 19
Dyserythropoietic Anemia, and Neutrophilic Dermatosis 19
Cda and Crmo 19

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
Rare immunological diseases


Summaries for Majeed Syndrome

MedlinePlus Genetics: 42 Majeed syndrome is a rare condition characterized by recurrent episodes of fever and inflammation in the bones and skin.One of the major features of Majeed syndrome is an inflammatory bone condition known as chronic recurrent multifocal osteomyelitis (CRMO). This condition causes recurrent episodes of pain and joint swelling beginning in infancy or early childhood. These symptoms persist into adulthood, although they may improve for short periods. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints.Another feature of Majeed syndrome is a blood disorder called congenital dyserythropoietic anemia. This disorder is one of many types of anemia, all of which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and shortness of breath. Complications of congenital dyserythropoietic anemia can range from mild to severe.Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps or blisters on the face, neck, back, and arms.

MalaCards based summary: Majeed Syndrome, also known as chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis, is related to chronic recurrent multifocal osteomyelitis and osteomyelitis. An important gene associated with Majeed Syndrome is LPIN2 (Lipin 2). Affiliated tissues include skin, bone and bone marrow, and related phenotypes are fever and arthralgia

GARD: 19 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. Most people with Majeed syndrome also develop inflammatory disorders of the skin, most often a condition known as Sweet syndrome. Majeed syndrome results from genetic changes in the LPIN2 gene. This condition is inherited in an autosomal recessive pattern.

UniProtKB/Swiss-Prot: 73 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).

Orphanet: 58 Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis.

Wikipedia: 75 Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal... more...

More information from OMIM: 609628

Related Diseases for Majeed Syndrome

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



Diseases related to Majeed Syndrome

Symptoms & Phenotypes for Majeed Syndrome

Human phenotypes related to Majeed Syndrome:

58 30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001945
2 arthralgia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002829
3 cachexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004326
4 papule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200034
5 bone pain 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002653
6 abnormality of bone marrow cell morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005561
7 pustule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200039
8 hypochromic microcytic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004840
9 metaphyseal irregularity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003025
10 congenital hypoplastic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004810
11 osteomyelitis 30 Hallmark (90%) HP:0002754
12 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
HP:0001508
13 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001744
14 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
15 acne 58 30 Frequent (33%) Frequent (79-30%)
HP:0001061
16 myalgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003326
17 increased bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0011001
18 headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002315
19 edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0000969
20 leukocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001974
21 synovitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100769
22 malabsorption 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002024
23 flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001371
24 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
25 glomerulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100820
26 cough 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012735
27 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
28 pulmonary infiltrates 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002113
29 microscopic hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002907
30 delayed skeletal maturation 30 Very rare (1%) HP:0002750
31 delayed puberty 30 Very rare (1%) HP:0000823
32 microcytic anemia 30 Very rare (1%) HP:0001935
33 joint swelling 30 Very rare (1%) HP:0001386
34 skin rash 30 Very rare (1%) HP:0000988
35 hepatosplenomegaly 30 Very rare (1%) HP:0001433
36 elevated erythrocyte sedimentation rate 30 Very rare (1%) HP:0003565
37 recurrent fever 30 Very rare (1%) HP:0001954
38 erythroid hyperplasia 30 Very rare (1%) HP:0012132
39 weight loss 58 Very frequent (99-80%)
40 inflammatory abnormality of the skin 58 Occasional (29-5%)
41 chronic recurrent multifocal osteomyelitis 58 Very frequent (99-80%)
42 abnormal inflammatory response 58 Very frequent (99-80%)
43 decreased mean corpuscular volume 30 HP:0025066

Clinical features from OMIM®:

609628 (Updated 08-Dec-2022)

Drugs & Therapeutics for Majeed Syndrome

Search Clinical Trials, 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

Organs/tissues related to Majeed Syndrome:

MalaCards : Skin, Bone, Bone Marrow, Cerebellum, Liver
ODiseA: Blood And Bone Marrow

Publications for Majeed Syndrome

Articles related to Majeed Syndrome:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 62 57 5
15994876 2005
2
Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. 62 57 5
2809904 1989
3
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. 57 5
11795677 2001
4
On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. 57 5
10969284 2000
5
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features. 62 5
33670882 2021
6
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 62 5
31727123 2019
7
Dramatic Response of Familial Majeed Syndrome to Interleukin-1 Antagonist Therapy: Case report. 62 5
31598604 2019
8
Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis. 62 5
27860302 2017
9
Efficacy of anti-IL-1 treatment in Majeed syndrome. 62 5
23087183 2013
10
A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2. 62 5
19717560 2009
11
A splice site mutation confirms the role of LPIN2 in Majeed syndrome. 62 5
17330256 2007
12
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
13
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
14
[Clinical analysis of 49 cases of non-inflammasome related conditions]. 62
36444428 2022
15
Canakinumab treatment in a young girl with refractory chronic recurrent multifocal osteomyelitis associated with pyoderma gangrenosum. 62
36004431 2022
16
Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review. 62
36253853 2022
17
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. 62
35332675 2022
18
MJDs family members: Potential prognostic targets and immune-associated biomarkers in hepatocellular carcinoma. 62
36159990 2022
19
Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature. 62
33993107 2021
20
[Clinical and genetic analysis of a child with Majeed syndrome]. 62
34365623 2021
21
Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis. 62
33314777 2021
22
Deficiency of Lipin2 Results in Enhanced NF-κB Signaling and Osteoclast Formation in RAW-D Murine Macrophages. 62
33809261 2021
23
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra. 62
31377798 2020
24
The role of deubiquitinating enzymes in gastric cancer. 62
31897112 2020
25
Profiling a Spectrum of Mental Job Demands and their Linkages to Employee Outcomes. 62
33569152 2020
26
Machado-Joseph Deubiquitinases: From Cellular Functions to Potential Therapy Targets. 62
32982735 2020
27
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. 62
30783801 2019
28
Update on the genetics of nonbacterial osteomyelitis in humans. 62
29912021 2018
29
Bone involvement in monogenic autoinflammatory syndromes. 62
28968889 2018
30
Bone inflammation and chronic recurrent multifocal osteomyelitis. 62
29565497 2018
31
A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. 62
30968643 2018
32
Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. 62
28031477 2017
33
Efficacy of treatment with IL-1RA in Majeed syndrome. 62
27480788 2017
34
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). 62
28301468 2017
35
Vasculitis in the autoinflammatory diseases. 62
27755121 2017
36
Phenotypic Variability in Majeed Syndrome. 62
27252506 2016
37
Ubiquitin-specific proteases are differentially expressed throughout the Schistosoma mansoni life cycle. 62
26112833 2015
38
Inborn errors of cytoplasmic triglyceride metabolism. 62
25300978 2015
39
[Autoinflammatory bone disorders in childhood]. 62
25292328 2014
40
Periodic Fever: A Review on Clinical, Management and Guideline for Iranian Patients - Part II. 62
25562014 2014
41
Lipin 2 binds phosphatidic acid by the electrostatic hydrogen bond switch mechanism independent of phosphorylation. 62
24811178 2014
42
Autoinflammatory bone diseases. 62
24182852 2013
43
Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers. 62
23917160 2013
44
Autoinflammatory diseases in pediatrics. 62
23827250 2013
45
Monogenic autoinflammatory diseases: concept and clinical manifestations. 62
23711932 2013
46
Autoinflammatory bone disorders. 62
23369460 2013
47
Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues. 62
24282415 2013
48
Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum. 62
22908270 2012
49
Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. 62
22359228 2012
50
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. 62
22127713 2011

Variations for Majeed Syndrome

ClinVar genetic disease variations for Majeed Syndrome:

5 (show top 50) (show all 555)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LPIN2 NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) SNV Pathogenic
548484 rs916009547 GRCh37: 18:2951174-2951174
GRCh38: 18:2951176-2951176
2 LPIN2 NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) SNV Pathogenic
567272 rs750126005 GRCh37: 18:2951054-2951054
GRCh38: 18:2951056-2951056
3 LPIN2 NC_000018.10:g.(?_2920273)_(2960860_?)del DEL Pathogenic
583606 GRCh37: 18:2920271-2960858
GRCh38: 18:2920273-2960860
4 LPIN2 NC_000018.10:g.(?_2931236)_(2951376_?)del DEL Pathogenic
832615 GRCh37: 18:2931234-2951374
GRCh38:
5 LPIN2 NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs) DEL Pathogenic
856331 rs2077113045 GRCh37: 18:2925232-2925236
GRCh38: 18:2925234-2925238
6 LPIN2 NM_001375808.2(LPIN2):c.1042_1045delinsGTA (p.Pro348fs) INDEL Pathogenic
969143 rs2077310320 GRCh37: 18:2937813-2937816
GRCh38: 18:2937815-2937818
7 LPIN2 NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) SNV Pathogenic
1068791 GRCh37: 18:2938020-2938020
GRCh38: 18:2938022-2938022
8 LPIN2 NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs) MICROSAT Pathogenic
1069224 GRCh37: 18:2921627-2921631
GRCh38: 18:2921629-2921633
9 LPIN2 NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter) SNV Pathogenic
1075334 GRCh37: 18:2925317-2925317
GRCh38: 18:2925319-2925319
10 LPIN2 NM_001375808.2(LPIN2):c.696del (p.Thr233fs) DEL Pathogenic
1098839 GRCh37: 18:2940605-2940605
GRCh38: 18:2940607-2940607
11 LPIN2 NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs) MICROSAT Pathogenic
234327 rs876660982 GRCh37: 18:2960703-2960704
GRCh38: 18:2960705-2960706
12 LPIN2 NM_001375808.2(LPIN2):c.1691_1694del (p.Arg564fs) MICROSAT Pathogenic
1012310 GRCh37: 18:2927736-2927739
GRCh38: 18:2927738-2927741
13 LPIN2 NM_001375808.2(LPIN2):c.2495_2496dup (p.Asn833Ter) DUP Pathogenic
1432195 GRCh37: 18:2920825-2920826
GRCh38: 18:2920827-2920828
14 LPIN2 NM_001375808.2(LPIN2):c.1160_1163del (p.Lys387fs) DEL Pathogenic
1452588 GRCh37: 18:2937695-2937698
GRCh38: 18:2937697-2937700
15 LPIN2 NM_001375808.2(LPIN2):c.1826dup (p.Ser610fs) DUP Pathogenic
1416971 GRCh37: 18:2925333-2925334
GRCh38: 18:2925335-2925336
16 LPIN2 NC_000018.10:g.(?_2926703)_(2929178_?)del DEL Pathogenic
831706 GRCh37: 18:2926701-2929176
GRCh38:
17 LPIN2 NM_001375808.2(LPIN2):c.2327+1G>C SNV Pathogenic
21519 rs80338808 GRCh37: 18:2922044-2922044
GRCh38: 18:2922046-2922046
18 LPIN2 NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) SNV Pathogenic
4908 rs80338807 GRCh37: 18:2922171-2922171
GRCh38: 18:2922173-2922173
19 LPIN2 NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) DEL Pathogenic/Likely Pathogenic
4909 rs80338806 GRCh37: 18:2951102-2951103
GRCh38: 18:2951104-2951105
20 LPIN2 NM_001375808.2(LPIN2):c.2443-2A>G SNV Likely Pathogenic
1474796 GRCh37: 18:2920881-2920881
GRCh38: 18:2920883-2920883
21 LPIN2 NM_001375808.2(LPIN2):c.822+2T>G SNV Likely Pathogenic
1482210 GRCh37: 18:2939476-2939476
GRCh38: 18:2939478-2939478
22 LPIN2 NM_001375808.2(LPIN2):c.1451_1456+6del DEL Likely Pathogenic
846759 rs2077209051 GRCh37: 18:2931248-2931259
GRCh38: 18:2931250-2931261
23 LPIN2 NM_001375808.2(LPIN2):c.2442+3_2442+6del DEL Likely Pathogenic
1339555 GRCh37: 18:2921525-2921528
GRCh38: 18:2921527-2921530
24 LPIN2 NC_000018.9:g.(?_2921511)_(2938055_?)del DEL Likely Pathogenic
1066630 GRCh37: 18:2921511-2938055
GRCh38:
25 LPIN2 NM_001375808.2(LPIN2):c.288+2T>G SNV Likely Pathogenic
1066965 GRCh37: 18:2954500-2954500
GRCh38: 18:2954502-2954502
26 LPIN2 NM_001375808.2(LPIN2):c.2086_2087+39del DEL Likely Pathogenic
657152 rs1598522408 GRCh37: 18:2924357-2924397
GRCh38: 18:2924359-2924399
27 LPIN2 NC_000018.10:g.(?_2921533)_(2938037_?)del DEL Likely Pathogenic
468453 GRCh37:
GRCh38: 18:2921533-2938037
28 LPIN2 NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) SNV Conflicting Interpretations Of Pathogenicity
326640 rs143562359 GRCh37: 18:2931315-2931315
GRCh38: 18:2931317-2931317
29 LPIN2 NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) SNV Conflicting Interpretations Of Pathogenicity
326634 rs886053765 GRCh37: 18:2922161-2922161
GRCh38: 18:2922163-2922163
30 LPIN2 NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) SNV Conflicting Interpretations Of Pathogenicity
326639 rs376147435 GRCh37: 18:2931306-2931306
GRCh38: 18:2931308-2931308
31 LPIN2 NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) SNV Conflicting Interpretations Of Pathogenicity
714824 rs570485374 GRCh37: 18:2939544-2939544
GRCh38: 18:2939546-2939546
32 LPIN2 NM_001375808.2(LPIN2):c.1939-2del DEL Conflicting Interpretations Of Pathogenicity
631800 rs745529823 GRCh37: 18:2924546-2924546
GRCh38: 18:2924548-2924548
33 LPIN2 NM_001375808.2(LPIN2):c.2327+10C>T SNV Conflicting Interpretations Of Pathogenicity
890624 rs367921036 GRCh37: 18:2922035-2922035
GRCh38: 18:2922037-2922037
34 LPIN2 NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) SNV Conflicting Interpretations Of Pathogenicity
326632 rs200648652 GRCh37: 18:2920311-2920311
GRCh38: 18:2920313-2920313
35 LPIN2 NM_001375808.2(LPIN2):c.2443-9C>T SNV Conflicting Interpretations Of Pathogenicity
138137 rs191749331 GRCh37: 18:2920888-2920888
GRCh38: 18:2920890-2920890
36 LPIN2 NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) SNV Conflicting Interpretations Of Pathogenicity
891233 rs753729438 GRCh37: 18:2960785-2960785
GRCh38: 18:2960787-2960787
37 LPIN2 NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) SNV Conflicting Interpretations Of Pathogenicity
21520 rs80338805 GRCh37: 18:2937867-2937867
GRCh38: 18:2937869-2937869
38 LPIN2 NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) SNV Conflicting Interpretations Of Pathogenicity
97814 rs104895500 GRCh37: 18:2929103-2929103
GRCh38: 18:2929105-2929105
39 LPIN2 NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) SNV Conflicting Interpretations Of Pathogenicity
234339 rs150022314 GRCh37: 18:2926779-2926779
GRCh38: 18:2926781-2926781
40 LPIN2 NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) SNV Conflicting Interpretations Of Pathogenicity
234343 rs201160155 GRCh37: 18:2920361-2920361
GRCh38: 18:2920363-2920363
41 LPIN2 NM_001375808.2(LPIN2):c.1169-7del DEL Conflicting Interpretations Of Pathogenicity
326643 rs746626720 GRCh37: 18:2934455-2934455
GRCh38: 18:2934457-2934457
42 LPIN2 NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) SNV Conflicting Interpretations Of Pathogenicity
234588 rs187572602 GRCh37: 18:2920357-2920357
GRCh38: 18:2920359-2920359
43 LPIN2 NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) SNV Conflicting Interpretations Of Pathogenicity
626132 rs140249737 GRCh37: 18:2920877-2920877
GRCh38: 18:2920879-2920879
44 LPIN2 NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) SNV Conflicting Interpretations Of Pathogenicity
378095 rs150806357 GRCh37: 18:2925284-2925284
GRCh38: 18:2925286-2925286
45 LPIN2 NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) SNV Conflicting Interpretations Of Pathogenicity
138138 rs149862905 GRCh37: 18:2920414-2920414
GRCh38: 18:2920416-2920416
46 LPIN2 NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) SNV Conflicting Interpretations Of Pathogenicity
387742 rs186864136 GRCh37: 18:2920787-2920787
GRCh38: 18:2920789-2920789
47 LPIN2 NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) SNV Conflicting Interpretations Of Pathogenicity
378091 rs147615538 GRCh37: 18:2951197-2951197
GRCh38: 18:2951199-2951199
48 LPIN2 NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) SNV Conflicting Interpretations Of Pathogenicity
811983 rs780138552 GRCh37: 18:2938018-2938018
GRCh38: 18:2938020-2938020
49 LPIN2 NM_001375808.2(LPIN2):c.2328-13A>T SNV Conflicting Interpretations Of Pathogenicity
138136 rs199830303 GRCh37: 18:2921658-2921658
GRCh38: 18:2921660-2921660
50 LPIN2 NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) SNV Conflicting Interpretations Of Pathogenicity
891177 rs148607670 GRCh37: 18:2925272-2925272
GRCh38: 18:2925274-2925274

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

73
# Symbol AA change Variation ID SNP ID
1 LPIN2 p.Ser734Leu VAR_023817 rs80338807

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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35 IUPHAR
36 LifeMap
38 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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