IBMPFD2
MCID: INC015
MIFTS: 33

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

Categories: Bone diseases, Genetic diseases, Mental diseases, Muscle 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 72 29 6 70
Multisystem Proteinopathy 2 57 72
Ibmpfd2 57 72
Msp2 57 72
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 2 39
Multisystem Proteinopathy 2; Msp2 57

Classifications:



External Ids:

OMIM® 57 615422
OMIM Phenotypic Series 57 PS167320
UMLS 70 C3809468

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

UniProtKB/Swiss-Prot : 72 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 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 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). Affiliated tissues include skeletal muscle, bone and placenta, 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...

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 31 HP:0000708
2 myopathy 31 HP:0003198
3 skeletal muscle atrophy 31 HP:0003202
4 abnormality of the skeletal system 31 HP:0000924
5 elevated serum creatine kinase 31 HP:0003236
6 muscular dystrophy 31 HP:0003560
7 myositis 31 HP:0100614
8 muscle fiber atrophy 31 HP:0100295
9 frontotemporal dementia 31 HP:0002145
10 centrally nucleated skeletal muscle fibers 31 HP:0003687

Clinical features from OMIM®:

615422 (Updated 20-May-2021)

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

Search Clinical Trials , 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:

40
Skeletal Muscle, Bone, Placenta, Salivary Gland, T Cells, Endothelial, 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 501)
# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 57 6
23455423 2013
2
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 57 6
11891683 2002
3
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. 57
24612671 2014
4
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 57
24119545 2014
5
Liposome engraftment and antigen combination potentiate the immune response towards conserved epitopes of the malaria vaccine candidate MSP2. 61
33618946 2021
6
Does Antibody Avidity to Plasmodium falciparum Merozoite Antigens increase with Age in Individuals living in Malaria-Endemic Areas? 61
33722929 2021
7
Inclusion of an Optimized Plasmodium falciparum Merozoite Surface Protein 2-Based Antigen in a Trivalent, Multistage Malaria Vaccine. 61
33789984 2021
8
Molecular detection and identification of piroplasms (Babesia spp. and Theileria spp.) and Anaplasma phagocytophilum in questing ticks from northwest Spain. 61
32757238 2021
9
Genetic polymorphisms of Plasmodium falciparum isolates from Melka-Werer, North East Ethiopia based on the merozoite surface protein-2 (msp-2) gene as a molecular marker. 61
33579293 2021
10
Plasmodium falciparum gametocyte carriage in symptomatic patients shows significant association with genetically diverse infections, anaemia, and asexual stage density. 61
33413393 2021
11
Merozoite surface protein 2 adsorbed onto acetalated dextran microparticles for malaria vaccination. 61
33309558 2021
12
Allelic diversity of MSP1 and MSP2 repeat loci correlate with levels of malaria endemicity in Senegal and Nigerian populations. 61
33436004 2021
13
Molecular surveillance and temporal monitoring of malaria parasites in focal Vietnamese provinces. 61
33384023 2020
14
Evaluation of Histidine-Rich Proteins 2 and 3 Gene Deletions in Plasmodium falciparum in Endemic Areas of the Brazilian Amazon. 61
33375379 2020
15
Anaplasma phagocytophilum and Other Anaplasma spp. in Various Hosts in the Mnisi Community, Mpumalanga Province, South Africa. 61
33217891 2020
16
Prevalence of Asymptomatic Malaria Parasitemia in Odisha, India: A Challenge to Malaria Elimination. 61
32783792 2020
17
Genetic diversity of Plasmodium falciparum in Grande Comore Island. 61
32883282 2020
18
The role of different species of wild ungulates and Ixodes ricinus ticks in the circulation of genetic variants of Anaplasma phagocytophilum in a forest biotope in north-western Poland. 61
32723651 2020
19
Determinants of Plasmodium falciparum multiplicity of infection and genetic diversity in Burkina Faso. 61
32819420 2020
20
Optimization and Evaluation of a Multiplex Quantitative PCR Assay for Detection of Nucleic Acids in Human Blood Samples from Patients with Spotted Fever Rickettsiosis, Typhus Rickettsiosis, Scrub Typhus, Monocytic Ehrlichiosis, and Granulocytic Anaplasmosis. 61
32493778 2020
21
Molecular surveillance reveals the presence of pfhrp2 and pfhrp3 gene deletions in Plasmodium falciparum parasite populations in Uganda, 2017-2019. 61
32843041 2020
22
Serological and molecular detection of Anaplasma phagocytophilum in Thoroughbred horses from Chilean racecourses. 61
32305236 2020
23
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
24
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
25
Measuring antibody avidity to Plasmodium falciparum merozoite antigens using a multiplex immunoassay approach. 61
32357882 2020
26
Molecular detection and genetic diversity of Anaplasma marginale based on the major surface protein genes in Thailand. 61
31953063 2020
27
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
28
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
29
Development of a Sensitive and Rapid Recombinase Polymerase Amplification Assay for Detection of Anaplasma phagocytophilum. 61
32132189 2020
30
Prevalence and molecular characterization of Anaplasma phagocytophilum in roe deer (Capreolus capreolus) from Spain. 61
31822398 2020
31
Molecular detection and phylogenetic analysis of canine tick-borne pathogens from Korea. 61
31839473 2020
32
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
33
Genetic diversity of Plasmodium falciparum and genetic profile in children affected by uncomplicated malaria in Cameroon. 61
32188442 2020
34
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
35
The immunoglobulin G antibody response to malaria merozoite antigens in asymptomatic children co-infected with malaria and intestinal parasites. 61
33170876 2020
36
Study of the cwaRS-ldcA Operon Coding a Two-Component System and a Putative L,D-Carboxypeptidase in Lactobacillus paracasei. 61
32194510 2020
37
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
38
Development of nematode resistance in Arabidopsis by HD-RNAi-mediated silencing of the effector gene Mi-msp2. 61
31757987 2019
39
Genetic polymorphism of merozoite surface proteins 1 and 2 of Plasmodium falciparum in the China-Myanmar border region. 61
31744492 2019
40
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
41
Insight of diagnostic performance using B-cell epitope antigens derived from triple P44-related proteins of Anaplasma phagocytophilum. 61
31182246 2019
42
Human granulocytic anaplasmosis in Kinmen, an offshore island of Taiwan. 61
31539395 2019
43
Characterization of Glycoproteins of Native 19kDa C-Terminal Merozoite Surface Protein-1 from Native Antigen of Plasmodium falciparum. 61
31879671 2019
44
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
45
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
46
Novel variants of the newly emerged Anaplasma capra from Korean water deer (Hydropotes inermis argyropus) in South Korea. 61
31345253 2019
47
A suite of kinetically superior AEP ligases can cyclise an intrinsically disordered protein. 61
31346249 2019
48
High-Complexity Plasmodium falciparum Infections, North Central Nigeria, 2015-2018. 61
31211682 2019
49
Severe oxidative stress in sickle cell disease patients with uncomplicated Plasmodium falciparum malaria in Kampala, Uganda. 61
31288760 2019
50
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

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 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.869A>T (p.Asp290Val) SNV Pathogenic 65454 rs397515326 GRCh37: 7:26232966-26232966
GRCh38: 7:26193346-26193346
2 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.669C>T (p.Gly223=) SNV Uncertain significance 541426 rs767263210 GRCh37: 7:26235519-26235519
GRCh38: 7:26195899-26195899
3 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.984_992del (p.329_331SGG[1]) Deletion Uncertain significance 541427 rs754021381 GRCh37: 7:26232170-26232178
GRCh38: 7:26192550-26192558
4 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.659-4A>G SNV Uncertain significance 571200 rs1562711082 GRCh37: 7:26235533-26235533
GRCh38: 7:26195913-26195913
5 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.578-10T>C SNV Uncertain significance 646482 rs199915606 GRCh37: 7:26236111-26236111
GRCh38: 7:26196491-26196491
6 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.476-3C>T SNV Uncertain significance 659107 rs370807816 GRCh37: 7:26236281-26236281
GRCh38: 7:26196661-26196661
7 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.657T>C (p.Ser219=) SNV Uncertain significance 662036 rs370050080 GRCh37: 7:26236022-26236022
GRCh38: 7:26196402-26196402
8 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.797A>G (p.Asn266Ser) SNV Uncertain significance 474504 rs1554331125 GRCh37: 7:26233239-26233239
GRCh38: 7:26193619-26193619
9 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.964+5T>G SNV Uncertain significance 858196 GRCh37: 7:26232866-26232866
GRCh38: 7:26193246-26193246
10 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.657T>A (p.Ser219=) SNV Uncertain significance 967904 GRCh37: 7:26236022-26236022
GRCh38: 7:26196402-26196402
11 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.14A>G (p.Lys5Arg) SNV Uncertain significance 1010666 GRCh37: 7:26237345-26237345
GRCh38: 7:26197725-26197725
12 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.505A>G (p.Asn169Asp) SNV Uncertain significance 1021688 GRCh37: 7:26236249-26236249
GRCh38: 7:26196629-26196629
13 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.928_930GGT[1] (p.Gly311del) Microsatellite Uncertain significance 810077 rs776731510 GRCh37: 7:26232902-26232904
GRCh38: 7:26193282-26193284
14 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.601C>T (p.Arg201Cys) SNV Uncertain significance 1060923 GRCh37: 7:26236078-26236078
GRCh38: 7:26196458-26196458
15 HNRNPA2B1 NC_000007.14:g.(?_26200562)_(26200587_?)dup Duplication Uncertain significance 830531 GRCh37: 7:26240182-26240207
GRCh38:
16 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.984C>A (p.Gly328=) SNV Likely benign 705959 rs768943063 GRCh37: 7:26232178-26232178
GRCh38: 7:26192558-26192558
17 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.7-143T>C SNV Likely benign 733173 rs773972068 GRCh37: 7:26237495-26237495
GRCh38: 7:26197875-26197875
18 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.147A>G (p.Ser49=) SNV Likely benign 763430 rs773260084 GRCh37: 7:26237052-26237052
GRCh38: 7:26197432-26197432
19 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.330T>C (p.Asp110=) SNV Likely benign 772754 rs191937523 GRCh37: 7:26236572-26236572
GRCh38: 7:26196952-26196952
20 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.756A>C (p.Gly252=) SNV Likely benign 704090 rs199909637 GRCh37: 7:26233280-26233280
GRCh38: 7:26193660-26193660
21 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.610G>A (p.Gly204Ser) SNV Likely benign 704292 rs200929422 GRCh37: 7:26236069-26236069
GRCh38: 7:26196449-26196449
22 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.633A>G (p.Pro211=) SNV Likely benign 541428 rs752086550 GRCh37: 7:26236046-26236046
GRCh38: 7:26196426-26196426
23 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.744C>T (p.Pro248=) SNV Likely benign 474503 rs141885504 GRCh37: 7:26233292-26233292
GRCh38: 7:26193672-26193672
24 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.315C>T (p.Gly105=) SNV Likely benign 474500 rs766409233 GRCh37: 7:26236587-26236587
GRCh38: 7:26196967-26196967
25 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.33C>G (p.Leu11=) SNV Likely benign 474501 rs774999756 GRCh37: 7:26237326-26237326
GRCh38: 7:26197706-26197706
26 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.117+4T>C SNV Benign 261953 rs41275982 GRCh37: 7:26237238-26237238
GRCh38: 7:26197618-26197618
27 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) SNV Benign 261955 rs117082250 GRCh37: 7:26236034-26236034
GRCh38: 7:26196414-26196414
28 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.841+6A>G SNV Benign 541429 rs144309126 GRCh37: 7:26233189-26233189
GRCh38: 7:26193569-26193569
29 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.288T>C (p.His96=) SNV Benign 541430 rs142061533 GRCh37: 7:26236614-26236614
GRCh38: 7:26196994-26196994
30 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.243A>G (p.Pro81=) SNV Benign 704997 rs143134057 GRCh37: 7:26236956-26236956
GRCh38: 7:26197336-26197336
31 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=) SNV Benign 261954 rs34317198 GRCh37: 7:26236235-26236235
GRCh38: 7:26196615-26196615
32 HNRNPA2B1 NM_002137.4(HNRNPA2B1):c.659-7C>G SNV Benign 703967 rs199606705 GRCh37: 7:26235536-26235536
GRCh38: 7:26195916-26195916

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

72
# 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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