MSP2
MCID: INC033
MIFTS: 30

Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 (MSP2)

Categories: Bone diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

MalaCards integrated aliases for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 12 15
Multisystem Proteinopathy 2 12
Ibmpfd2 12
Msp2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111384

Summaries for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Disease Ontology : 12 An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has material basis in heterozygous mutation in HNRPA2B1 on 7p15.2.

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to malaria and inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 is AKR1C2 (Aldo-Keto Reductase Family 1 Member C2). The drugs Lumefantrine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and testes, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Diseases in the Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 family:

Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3

Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 malaria 29.6 SENP7 NANP MCF2 HSPD1 GYPA DHPS
2 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 28.3 XPO1 SENP7 SAG RHAG NANP MCF2
3 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 11.5
4 human granulocytic anaplasmosis 10.6
5 plasmodium malariae malaria 10.4 NANP DHFR
6 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.4
7 plasmodium falciparum malaria 10.4
8 endemic typhus 10.4 HSPD1 H2AC18
9 ritscher-schinzel syndrome 2 10.3 MCF2 HUWE1
10 ehrlichiosis 10.3
11 whipple disease 10.3 HSPD1 DHPS
12 carrion's disease 10.3 HSPD1 GYPA
13 tick infestation 10.3 HUWE1 HSPD1
14 commensal bacterial infectious disease 10.2 HUWE1 HSPD1 H2AC18
15 hypomyelinating leukodystrophy 10.2 HUWE1 HSPD1 H2AC18
16 hypotrichosis 2 10.2 HUWE1 H2AC18 DHPS
17 retinohepatoendocrinologic syndrome 10.2 RHAG GYPA
18 ocular motor apraxia 10.1
19 thalassemia 10.1
20 severe combined immunodeficiency 10.1
21 babesiosis 10.1 HUWE1 CCT7
22 chorioretinitis 10.1 SAG DHFR
23 nephronophthisis 3 9.9 KLHL2 H2AC18
24 hereditary spherocytosis 9.9 RHAG H2AC18 GYPA
25 relapsing fever 9.9 NRSN1 HSPD1
26 parasitic protozoa infectious disease 9.3 NANP MCF2 KLHL2 HUWE1 H2AC18 GYPA
27 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 8.7 XPO1 SENP7 NANP MCF2 KLHL2 HUWE1
28 inclusion body myopathy with paget disease of bone and frontotemporal dementia 7.4 XPO1 SENP7 SARS1 SAG RHAG NANP

Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2:



Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2

Symptoms & Phenotypes for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

GenomeRNAi Phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.66 RPL23A
2 Decreased viability GR00240-S-1 9.66 RPL23A SARS1
3 Decreased viability GR00249-S 9.66 CCT7 DHFR SENP7
4 Decreased viability GR00381-A-1 9.66 DHFR MCF2 NANP NRSN1 RPL23A
5 Decreased viability GR00386-A-1 9.66 GYPA KLHL2 NRSN1 RPL23A XPO1
6 Decreased viability GR00402-S-2 9.66 CCT7 NANP NRSN1 RPL23A SARS1 XPO1

Drugs & Therapeutics for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Drugs for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lumefantrine Approved Phase 4 82186-77-4 6437380
2
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
3
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
4
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
5
Primaquine Approved Phase 4 90-34-6 4908
6
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
7
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
8 Artemisinins Phase 4
9 Artemisinine Phase 4
10 Antiparasitic Agents Phase 4
11 Antiprotozoal Agents Phase 4
12 Artemether, Lumefantrine Drug Combination Phase 4
13 Anti-Infective Agents Phase 4
14 Antimalarials Phase 4
15 Anthelmintics Phase 4
16 Antiviral Agents Phase 4
17
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
18
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
19
Sulfadoxine Approved, Investigational Phase 2, Phase 3 2447-57-6 17134
20
Pyrimethamine Approved, Investigational, Vet_approved Phase 2, Phase 3 58-14-0 4993
21
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
22 Folic Acid Antagonists Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Folate Phase 2, Phase 3
25 Vitamin B9 Phase 2, Phase 3
26
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
27 Fanasil, pyrimethamine drug combination
28 Amebicides
29 Chloroquine diphosphate 50-63-5
30 Antirheumatic Agents
31 Amodiaquine, artesunate drug combination

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Efficacy of Artesunate Monotherapy and Dihydroartemisinin - Piperaquine in Patients With Uncomplicated Falciparum Malaria in Central Vietnam Unknown status NCT02604966 Phase 4 Artesunate (AS) group;DHA - PPQ group
2 A Multicentre Randomised Comparative Clinical Trial of the Efficacy of Artesunate + Amodiaquine Versus Artemether-lumefantrine (Coartem®) for the Treatment of Uncomplicated Childhood Plasmodium Falciparum Malaria in Zanzibar Completed NCT03768908 Phase 4 Artemether-lumefantrine;Artesunate + Amodiaquine
3 Efficacy and Safety of Artesunate + Amodiaquine Combined With a Single Low Dose of Primaquine (0.25 mg/kg) for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Zanzibar Completed NCT03773536 Phase 4 Artesunate-amodiaquine given with single low dose primaquine
4 Evaluation of the Efficacy of Artemisinin Combination Therapy in Kenya Unknown status NCT01899820 Phase 3 Artemether lumefantrine;Dihydroartemisinin piperaquine
5 An Open-label Randomized Controlled Trial to Evaluate the Effectiveness and Safety of a 3 Day Versus 5 Day Course of Artemether-lumefantrine for the Treatment of Uncomplicated Falciparum Malaria in Myanmar Completed NCT02020330 Phase 3 Artemether-lumefantrine 3 days;Artemether-lumefantrine 5 days
6 Anti-malarial Drug Resistance in Cameroon: Therapeutic Efficacy and Biological Markers of Resistance Completed NCT00146718 Phase 2, Phase 3 Amodiaquine and Sulphadoxine/Pyrimethamine
7 Phase III Clinical Trials of Artemisinin-based Combination Therapy in Cameroon Completed NCT00297882 Phase 3 Artemether-Lumefantrine , Amodiaquine-Artesunate
8 Efficacy and Safety of Artesunate+Sulphadoxine-Pyrimethamine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Malaria Control Center Asadabad in Kunar Province of Afghanistan Unknown status NCT01707199 Artesunate + Sulphadoxine-pyrimethamine
9 A Study of the Impact of Insecticide-treated Curtains on the Prevalence of Antimalarial Drug Resistance in Children With Uncomplicated Malaria in Burkina Faso Completed NCT00169078 Chloroquine
10 Efficacy of Amodiaquine-Artesunate and Artemether-Lumefantrine for the Treatment of Uncomplicated Childhood Plasmodium Falciparum Malaria in Pweto, Democratic Republic of Congo, 2008 Completed NCT01567423 ASAQ Winthrop® Sanofi Aventis;Coartem®, Novartis
11 Efficacy and Safety of Artemether-lumefantrine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria and Chloroquine for the Treatment of Plasmodium Vivax in the Philippines Completed NCT04222088 Arthemeter-lumefantrine;Chloroquine

Search NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2

Genetic Tests for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Anatomical Context for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2:

40
Bone, T Cells, Testes, Placenta, Myeloid, B Cells, Salivary Gland

Publications for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Articles related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2:

(show top 50) (show all 479)
# Title Authors PMID Year
1
Serological and molecular detection of Anaplasma phagocytophilum in Thoroughbred horses from Chilean racecourses. 61
32305236 2020
2
An outbreak of bovine babesiosis in February, 2019, triggered by above average winter temperatures in southern England and co-infection with Babesia divergens and Anaplasma phagocytophilum. 61
32532309 2020
3
Efficacy and safety of artemisinin-based combination therapy and the implications of Pfkelch13 and Pfcoronin molecular markers in treatment failure in Senegal. 61
32483161 2020
4
Optimization and evaluation of a multiplex quantitative PCR assay for detection of nucleic acids in human blood from patients with spotted fever rickettsiosis, typhus rickettsiosis, scrub typhus, monocytic ehrlichiosis, and granulocytic anaplasmosis. 61
32493778 2020
5
Measuring antibody avidity to Plasmodium falciparum merozoite antigens using a multiplex immunoassay approach. 61
32357882 2020
6
Molecular detection and genetic diversity of Anaplasma marginale based on the major surface protein genes in Thailand. 61
31953063 2020
7
Transovarial transmission of Borrelia spp., Rickettsia spp. and Anaplasma phagocytophilum in Ixodes ricinus under field conditions extrapolated from DNA detection in questing larvae. 61
32264920 2020
8
Development of a Sensitive and Rapid Recombinase Polymerase Amplification Assay for Detection of Anaplasma phagocytophilum. 61
32132189 2020
9
Prolonged Heat Stress of Lactobacillus paracasei GCRL163 Improves Binding to Human Colorectal Adenocarcinoma HT-29 Cells and Modulates the Relative Abundance of Secreted and Cell Surface-Located Proteins. 61
32108472 2020
10
Molecular detection and phylogenetic analysis of canine tick-borne pathogens from Korea. 61
31839473 2020
11
Prevalence and molecular characterization of Anaplasma phagocytophilum in roe deer (Capreolus capreolus) from Spain. 61
31822398 2020
12
Variation of prevalence of malaria, parasite density and the multiplicity of Plasmodium falciparum infection throughout the year at three different health centers in Brazzaville, Republic of Congo. 61
32131754 2020
13
Genetic diversity of Plasmodium falciparum and genetic profile in children affected by uncomplicated malaria in Cameroon. 61
32188442 2020
14
Impact of an Irrigation Dam on the Transmission and Diversity of Plasmodium falciparum in a Seasonal Malaria Transmission Area of Northern Ghana. 61
32308690 2020
15
Study of the cwaRS-ldcA Operon Coding a Two-Component System and a Putative L,D-Carboxypeptidase in Lactobacillus paracasei. 61
32194510 2020
16
Monitoring of efficacy, tolerability and safety of artemether-lumefantrine and artesunate-amodiaquine for the treatment of uncomplicated Plasmodium falciparum malaria in Lambaréné, Gabon: an open-label clinical trial. 61
31842893 2019
17
Presence of Roe Deer Affects the Occurrence of Anaplasma phagocytophilum Ecotypes in Questing Ixodes ricinus in Different Habitat Types of Central Europe. 61
31783486 2019
18
Development of nematode resistance in Arabidopsis by HD-RNAi-mediated silencing of the effector gene Mi-msp2. 61
31757987 2019
19
Genetic polymorphism of merozoite surface proteins 1 and 2 of Plasmodium falciparum in the China-Myanmar border region. 61
31744492 2019
20
Insight of diagnostic performance using B-cell epitope antigens derived from triple P44-related proteins of Anaplasma phagocytophilum. 61
31182246 2019
21
Human granulocytic anaplasmosis in Kinmen, an offshore island of Taiwan. 61
31539395 2019
22
Genetic polymorphism of Merozoite Surface Protein 1 (msp1) and 2 (msp2) genes and multiplicity of Plasmodium falciparum infection across various endemic areas in Senegal. 61
32127816 2019
23
Characterization of Glycoproteins of Native 19kDa C-Terminal Merozoite Surface Protein-1 from Native Antigen of Plasmodium falciparum. 61
31879671 2019
24
Immunogenicity of a recombinant fusion construct composed of intrinsically unstructured, low polymorphic segments derived from merozoite surface protein 2 and trophozoite exported protein 1. 61
31358409 2019
25
A suite of kinetically superior AEP ligases can cyclise an intrinsically disordered protein. 61
31346249 2019
26
Novel variants of the newly emerged Anaplasma capra from Korean water deer (Hydropotes inermis argyropus) in South Korea. 61
31345253 2019
27
Severe oxidative stress in sickle cell disease patients with uncomplicated Plasmodium falciparum malaria in Kampala, Uganda. 61
31288760 2019
28
High-Complexity Plasmodium falciparum Infections, North Central Nigeria, 2015-2018. 61
31211682 2019
29
Plasmodium falciparum merozoite surface antigen-specific cytophilic IgG and control of malaria infection in a Beninese birth cohort. 61
31185998 2019
30
The Diversity, Multiplicity of Infection and Population Structure of P. falciparum Parasites Circulating in Asymptomatic Carriers Living in High and Low Malaria Transmission Settings of Ghana. 61
31181699 2019
31
Immunization with merozoite surface protein 2 fused to a Plasmodium-specific carrier protein elicits strain-specific and strain-transcending, opsonizing antibody. 61
31227760 2019
32
Sub-microscopic Plasmodium falciparum infections in matched peripheral, placental and umbilical cord blood samples from asymptomatic Congolese women at delivery. 61
30836060 2019
33
Molecular Detection and Characterization of p44/msp2 Multigene Family of Anaplasma phagocytophilum from Haemaphysalis longicornis in Mie Prefecture, Japan. 61
30700658 2019
34
Analysis of antibody responses to selected Plasmodium falciparum merozoite surface antigens in mild and cerebral malaria and associations with clinical outcomes. 61
30580455 2019
35
Bartonella and Rickettsia Infections in Haematophagous Spinturnix myoti Mites (Acari: Mesostigmata) and their Bat Host, Myotis myotis (Yangochiroptera: Vespertilionidae), from Poland. 61
30151669 2019
36
Diversity of Anaplasma species in cattle in Mozambique. 61
30833198 2019
37
Predominant Shift of Different P44-Expressing Anaplasma phagocytophilum in Infected HL-60, THP-1, NB4, and RF/6A Cell Lines. 61
30381676 2019
38
Comparison of msp genotyping and a 24 SNP molecular assay for differentiating Plasmodium falciparum recrudescence from reinfection. 61
30885193 2019
39
An Acid Up-Regulated Surface Protein of Lactobacillus paracasei Strain GCRL 46 is Phylogenetically Related to the Secreted Glucan- (GpbB) and Immunoglobulin-Binding (SibA) Protein of Pathogenic Streptococci. 61
30935131 2019
40
Longitudinal tracking and quantification of individual Plasmodium falciparum clones in complex infections. 61
30833657 2019
41
Molecular detection, characterization of Anaplasma spp. in domestic cats from Rio de Janeiro state. 61
30615856 2019
42
Interaction of merozoite surface protein 2 with lipid membranes. 61
30588612 2019
43
Segmental Variation in a Duplicated msp2 Pseudogene Generates Anaplasma marginale Antigenic Variants. 61
30455197 2019
44
Genetically diverse Plasmodium falciparum infections, within-host competition and symptomatic malaria in humans. 61
30644435 2019
45
Modulation of the aggregation of an amyloidogenic sequence by flanking-disordered region in the intrinsically disordered antigen merozoite surface protein 2. 61
30443712 2019
46
A Multi-Pathogen Screening of Captive Reindeer (Rangifer tarandus) in Germany Based on Serological and Molecular Assays. 61
31921918 2019
47
Enhancing hydrogen production through anaerobic co-digestion of fruit waste with biosolids. 61
30729839 2019
48
Efficacy of Artemisinin Base Combination Therapy and Genetic Diversity of Plasmodium falciparum from Uncomplicated Malaria Falciparum Patient in District of Pesawaran, Province of Lampung, Indonesia. 61
31123479 2019
49
The impact of early life exposure to Plasmodium falciparum on the development of naturally acquired immunity to malaria in young Malawian children. 61
30658632 2019
50
Molecular Detection and Phylogenetic Analysis of Anaplasma phagocytophilum in Horses in Korea. 61
30630276 2018

Variations for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Expression for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Search GEO for disease gene expression data for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2.

Pathways for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

GO Terms for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

Cellular components related to Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 XPO1 SARS1 SAG RPL23A NANP MCF2

Sources for Inclusion Body Myopathy with Early-Onset Paget Disease of Bone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....