IBMPFD2
MCID: INC015
MIFTS: 37

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (IBMPFD2)

Categories: Bone diseases, Genetic diseases, Mental diseases

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

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

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 57 74 29 6 72
Multisystem Proteinopathy 2 57 74
Ibmpfd2 57 74
Msp2 57 74
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 2 40
Multisystem Proteinopathy 2; Msp2 57

Classifications:



External Ids:

UMLS 72 C3809468

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

UniProtKB/Swiss-Prot : 74 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to human granulocytic anaplasmosis and malaria. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 is HNRNPA2B1 (Heterogeneous Nuclear Ribonucleoprotein A2/B1). The drugs Lumefantrine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and t cells, and related phenotypes are behavioral abnormality and myopathy

More information from OMIM: 615422 PS167320

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

Diseases in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3

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

# Related Disease Score Top Affiliating Genes
1 human granulocytic anaplasmosis 10.6
2 malaria 10.4
3 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.4
4 plasmodium falciparum malaria 10.4
5 ehrlichiosis 10.3
6 ocular motor apraxia 10.1
7 thalassemia 10.1
8 severe combined immunodeficiency 10.1

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



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

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

Human phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 myopathy 32 HP:0003198
3 skeletal muscle atrophy 32 HP:0003202
4 myositis 32 HP:0100614
5 abnormality of the skeletal system 32 HP:0000924
6 muscular dystrophy 32 HP:0003560
7 muscle fiber atrophy 32 HP:0100295
8 centrally nucleated skeletal muscle fibers 32 HP:0003687
9 frontotemporal dementia 32 HP:0002145
10 elevated serum creatine kinase 32 HP:0003236

Clinical features from OMIM:

615422

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

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

(show all 32)
# 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 119380
3
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
4
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
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 Artemisinine Phase 4
9 Artemisinins Phase 4
10 Antimalarials Phase 4
11 Antiparasitic Agents Phase 4
12 Antiprotozoal Agents Phase 4
13 Anti-Infective Agents Phase 4
14 Artemether, Lumefantrine Drug Combination Phase 4
15 Anthelmintics Phase 4
16 Antiviral Agents Phase 4
17
Sulfadoxine Approved, Investigational Phase 2, Phase 3 2447-57-6 17134
18
leucovorin Approved Phase 2, Phase 3 58-05-9 143 6006
19
Pyrimethamine Approved, Investigational, Vet_approved Phase 2, Phase 3 58-14-0 4993
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
21
Lactitol Investigational Phase 3 585-86-4, 585-88-6 493591
22 Folic Acid Antagonists Phase 2, Phase 3
23 Renal Agents Phase 2, Phase 3
24 Vitamin B9 Phase 2, Phase 3
25 Folate Phase 2, Phase 3
26 Vitamin B Complex Phase 2, Phase 3
27 Anti-Infective Agents, Urinary Phase 2, Phase 3
28
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
29 Fanasil, pyrimethamine drug combination
30 Chloroquine diphosphate 50-63-5
31 Antirheumatic Agents
32 Amodiaquine, artesunate drug combination

Interventional clinical trials:


# 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 Phase III Clinical Trials of Artemisinin-based Combination Therapy in Cameroon Completed NCT00297882 Phase 3 Artemether-Lumefantrine , Amodiaquine-Artesunate
7 Anti-malarial Drug Resistance in Cameroon: Therapeutic Efficacy and Biological Markers of Resistance Completed NCT00146718 Phase 2, Phase 3 Amodiaquine and Sulphadoxine/Pyrimethamine
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

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

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

Genetic tests related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 29 HNRNPA2B1

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

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

41
Bone, Skeletal Muscle, T Cells, Testes, Placenta, B Cells, Myeloid

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

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

(show top 50) (show all 460)
# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 8 71
23455423 2013
2
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 8 71
11891683 2002
3
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. 8
24612671 2014
4
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 8
24119545 2014
5
Immunogenicity of a recombinant fusion construct composed of intrinsically unstructured, low polymorphic segments derived from merozoite surface protein 2 and trophozoite exported protein 1. 38
31358409 2019
6
A suite of kinetically superior AEP ligases can cyclise an intrinsically disordered protein. 38
31346249 2019
7
Novel variants of the newly emerged Anaplasma capra from Korean water deer (Hydropotes inermis argyropus) in South Korea. 38
31345253 2019
8
Severe oxidative stress in sickle cell disease patients with uncomplicated Plasmodium falciparum malaria in Kampala, Uganda. 38
31288760 2019
9
High-Complexity Plasmodium falciparum Infections, North Central Nigeria, 2015-2018. 38
31211682 2019
10
Plasmodium falciparum merozoite surface antigen-specific cytophilic IgG and control of malaria infection in a Beninese birth cohort. 38
31185998 2019
11
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. 38
31181699 2019
12
Immunization with merozoite surface protein 2 fused to a Plasmodium-specific carrier protein elicits strain-specific and strain-transcending, opsonizing antibody. 38
31227760 2019
13
Insight of diagnostic performance using B-cell epitope antigens derived from triple P44-related proteins of Anaplasma phagocytophilum. 38
31182246 2019
14
Sub-microscopic Plasmodium falciparum infections in matched peripheral, placental and umbilical cord blood samples from asymptomatic Congolese women at delivery. 38
30836060 2019
15
Molecular Detection and Characterization of p44/msp2 Multigene Family of Anaplasma phagocytophilum from Haemaphysalis longicornis in Mie Prefecture, Japan. 38
30700658 2019
16
Analysis of antibody responses to selected Plasmodium falciparum merozoite surface antigens in mild and cerebral malaria and associations with clinical outcomes. 38
30580455 2019
17
Diversity of Anaplasma species in cattle in Mozambique. 38
30833198 2019
18
Bartonella and Rickettsia Infections in Haematophagous Spinturnix myoti Mites (Acari: Mesostigmata) and their Bat Host, Myotis myotis (Yangochiroptera: Vespertilionidae), from Poland. 38
30151669 2019
19
Predominant Shift of Different P44-Expressing Anaplasma phagocytophilum in Infected HL-60, THP-1, NB4, and RF/6A Cell Lines. 38
30381676 2019
20
Comparison of msp genotyping and a 24 SNP molecular assay for differentiating Plasmodium falciparum recrudescence from reinfection. 38
30885193 2019
21
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. 38
30935131 2019
22
Longitudinal tracking and quantification of individual Plasmodium falciparum clones in complex infections. 38
30833657 2019
23
Molecular detection, characterization of Anaplasma spp. in domestic cats from Rio de Janeiro state. 38
30615856 2019
24
Segmental Variation in a Duplicated msp2 Pseudogene Generates Anaplasma marginale Antigenic Variants. 38
30455197 2019
25
Interaction of merozoite surface protein 2 with lipid membranes. 38
30588612 2019
26
Genetically diverse Plasmodium falciparum infections, within-host competition and symptomatic malaria in humans. 38
30644435 2019
27
Modulation of the aggregation of an amyloidogenic sequence by flanking-disordered region in the intrinsically disordered antigen merozoite surface protein 2. 38
30443712 2019
28
Enhancing hydrogen production through anaerobic co-digestion of fruit waste with biosolids. 38
30729839 2019
29
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. 38
31123479 2019
30
The impact of early life exposure to Plasmodium falciparum on the development of naturally acquired immunity to malaria in young Malawian children. 38
30658632 2019
31
Molecular Detection and Phylogenetic Analysis of Anaplasma phagocytophilum in Horses in Korea. 38
30630276 2018
32
Characterization of Plasmodium falciparum structure in Nigeria with malaria SNPs barcode. 38
30558627 2018
33
Genetic diversity and allele frequencies of Plasmodium falciparum msp1 and msp2 in parasite isolates from Bioko Island, Equatorial Guinea. 38
30526609 2018
34
Diagnosis and molecular characteristics of human infections caused by Anaplasma phagocytophilum in South Korea. 38
30353471 2018
35
High proportions of pfhrp2 gene deletion and performance of HRP2-based rapid diagnostic test in Plasmodium falciparum field isolates of Odisha. 38
30373573 2018
36
The prevalence of submicroscopic Plasmodium falciparum gametocyte carriage and multiplicity of infection in children, pregnant women and adults in a low malaria transmission area in Southern Ghana. 38
30223841 2018
37
Association of Antibodies to VAR2CSA and Merozoite Antigens with Pregnancy Outcomes in Women Living in Yaoundé, Cameroon. 38
29986889 2018
38
Molecular detection of Anaplasma phagocytophilum-like Anaplasma spp. and pathogenic A. Phagocytophilum in cattle from South Korea. 38
29653174 2018
39
Cytophilic Antibodies Against Key Plasmodium falciparum Blood Stage Antigens Contribute to Protection Against Clinical Malaria in a High Transmission Region of Eastern India. 38
29733355 2018
40
Identifying Recrudescent Plasmodium falciparum in Treated Malaria Patients by Real-time PCR and High Resolution Melt Analysis of Genetic Diversity. 38
29973679 2018
41
Human Immunization With a Polymorphic Malaria Vaccine Candidate Induced Antibodies to Conserved Epitopes That Promote Functional Antibodies to Multiple Parasite Strains. 38
29584918 2018
42
Plasmodium falciparum msp1 and msp2 genetic diversity and allele frequencies in parasites isolated from symptomatic malaria patients in Bobo-Dioulasso, Burkina Faso. 38
29843783 2018
43
Anaplasma species detected in Haemaphysalis longicornis tick from China. 38
29567147 2018
44
Targeting the GPI biosynthetic pathway. 38
29484956 2018
45
Co-circulation of different A. phagocytophilum variants within cattle herds and possible reservoir role for cattle. 38
29523202 2018
46
Effect of nutrient supplementation on the acquisition of humoral immunity to Plasmodium falciparum in young Malawian children. 38
29415730 2018
47
Intrauterine Transmission of Anaplasma phagocytophilum in Persistently Infected Lambs. 38
29495651 2018
48
Epidemiology, genetic variants and clinical course of natural infections with Anaplasma phagocytophilum in a dairy cattle herd. 38
29310697 2018
49
The in Vitro Antigenicity of Plasmodium vivax Rhoptry Neck Protein 2 (PvRON2) B- and T-Epitopes Selected by HLA-DRB1 Binding Profile. 38
29868512 2018
50
Transient antibody-antigen interactions mediate the strain-specific recognition of a conserved malaria epitope. 38
30271940 2018

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

ClinVar genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.905A> T (p.Asp302Val) single nucleotide variant Pathogenic rs397515326 7:26232966-26232966 7:26193346-26193346
2 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.695-4A> G single nucleotide variant Uncertain significance 7:26235533-26235533 7:26195913-26195913
3 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.693T> C (p.Ser231=) single nucleotide variant Uncertain significance 7:26236022-26236022 7:26196402-26196402
4 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.614-10T> C single nucleotide variant Uncertain significance 7:26236111-26236111 7:26196491-26196491
5 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.512-3C> T single nucleotide variant Uncertain significance 7:26236281-26236281 7:26196661-26196661
6 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.833A> G (p.Asn278Ser) single nucleotide variant Uncertain significance rs1554331125 7:26233239-26233239 7:26193619-26193619
7 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.1020_1028del (p.341_343SGG[1]) deletion Uncertain significance rs754021381 7:26232170-26232178 7:26192550-26192558
8 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.705C> T (p.Gly235=) single nucleotide variant Uncertain significance rs767263210 7:26235519-26235519 7:26195899-26195899
9 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.757+10C> T single nucleotide variant Likely benign rs768374617 7:26235457-26235457 7:26195837-26195837
10 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.69C> G (p.Leu23=) single nucleotide variant Likely benign rs774999756 7:26237326-26237326 7:26197706-26197706
11 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.780C> T (p.Pro260=) single nucleotide variant Likely benign rs141885504 7:26233292-26233292 7:26193672-26193672
12 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.351C> T (p.Gly117=) single nucleotide variant Likely benign rs766409233 7:26236587-26236587 7:26196967-26196967
13 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.669A> G (p.Pro223=) single nucleotide variant Likely benign rs752086550 7:26236046-26236046 7:26196426-26196426
14 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.324T> C (p.His108=) single nucleotide variant Benign rs142061533 7:26236614-26236614 7:26196994-26196994
15 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.877+6A> G single nucleotide variant Benign rs144309126 7:26233189-26233189 7:26193569-26193569
16 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.681T> C (p.Phe227=) single nucleotide variant Benign rs117082250 7:26236034-26236034 7:26196414-26196414
17 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.555A> G (p.Arg185=) single nucleotide variant Benign rs34317198 7:26236235-26236235 7:26196615-26196615
18 HNRNPA2B1 NM_031243.3(HNRNPA2B1): c.153+4T> C single nucleotide variant Benign rs41275982 7:26237238-26237238 7:26197618-26197618

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2:

74
# Symbol AA change Variation ID SNP ID
1 HNRNPA2B1 p.Asp302Val VAR_070591 rs397515326

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

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

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

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

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

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