IBMPFD3
MCID: INC031
MIFTS: 31

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 (IBMPFD3)

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 3:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 57 72 29 6 70
Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 57 29
Multisystem Proteinopathy 3 57 72
Ibmpfd3 57 72
Msp3 57 72
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 3 39
Multisystem Proteinopathy 3; Msp3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset between 35-43 years of age
many become wheelchair bound
one family described (last curated october 2013)


HPO:

31
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615424
OMIM Phenotypic Series 57 PS167320
UMLS 70 C3809469

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 3: 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 3, also known as inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 and malaria. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 is HNRNPA1 (Heterogeneous Nuclear Ribonucleoprotein A1). The drugs Aluminum hydroxide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are myopathy and limb-girdle muscular dystrophy

More information from OMIM: 615424 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 11.0
2 malaria 10.5
3 plasmodium falciparum malaria 10.2
4 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.1
5 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.1
6 tetanus 10.1
7 rapidly involuting congenital hemangioma 9.9

Graphical network of the top 20 diseases related to 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 3

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 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 limb-girdle muscular dystrophy 31 HP:0006785
3 rimmed vacuoles 31 HP:0003805
4 mildly elevated creatine kinase 31 HP:0008180
5 proximal muscle weakness 31 HP:0003701
6 elevated alkaline phosphatase 31 HP:0003155
7 muscle fiber inclusion bodies 31 HP:0100299
8 abnormal morphology of the abdominal musculature 31 HP:0010991

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
normal cognition

Skeletal Spine:
disordered and exaggerated bone remodeling
trabecular coarsening of the lumbar vertebral body

Skeletal Limbs:
increased osteosclerosis of the epiphyseal portion of the femur

Laboratory Abnormalities:
elevated serum creatine kinase (up to 7 times normal limit)
elevated alkaline phosphatase (up to 8 times normal limit in most patients)

Skeletal:
paget disease

Skeletal Pelvis:
disordered and exaggerated bone remodeling
increased osteosclerosis

Muscle Soft Tissue:
muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)
muscle pain following exercise (in some patients)
multiple rimmed vacuoles seen on biopsy (in some patients)
inclusion bodies seen on biopsy (in some patients)
fiber size variation seen on biopsy (in some patients)
more

Clinical features from OMIM®:

615424 (Updated 05-Apr-2021)

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 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
2 Vaccines Phase 2
3 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase IIb Immunogenicity, Efficacy and Safety Study of P. Falciparum Vaccine Candidate, MSP3-LSP Adjuvanted in Aluminium Hydroxide Versus Verorab Control in Healthy Children Aged 12-48 Months in Mali. Unknown status NCT00652275 Phase 2
2 Phase 2B Double Blind, Randomized, Controlled Trial to Evaluate the Safety, Immunogenicity and Protective Efficacy of MSP3-LSP Vaccine Candidate Adjuvanted in Aluminium Hydroxide (AIOH) Against Plasmodium Falciparum Clinical Malaria in Healthy Children Aged 12-48 Months in Mali Completed NCT01341704 Phase 2
3 A Double Blind, Randomized, Controlled Phase Ib Field Trial in 12 to 24 Month Old Children in Tanzania to Evaluate the Safety and Immunogenicity of Candidate Malaria Vaccine MSP 3 Versus Hepatitis B Vaccine Unknown status NCT00469651 Phase 1
4 Assessment of the Safety and Immunogenicity of the Recombinant Lactococcus Lactis Hybrid GMZ2 [GLURP+MSP3] a Malaria Vaccine in Healthy Adult Volunteers. A Phase I, Double-Blind, Randomised, Dose-Selection, Unicentre Trial Unknown status NCT00397449 Phase 1

Search NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3

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 3:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 29 HNRNPA1
2 Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 29

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 3:

40
Bone

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 3:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 57 6
23455423 2013
2
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 57 6
20116073 2010
3
ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1. 6
25616961 2015
4
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. 57
24612671 2014
5
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 57
24119545 2014
6
Does Antibody Avidity to Plasmodium falciparum Merozoite Antigens increase with Age in Individuals living in Malaria-Endemic Areas? 61
33722929 2021
7
Allelic variation of msp-3α gene in Plasmodium vivax isolates and its correlation with the severity of disease in vivax malaria. 61
32896637 2020
8
Conferring root-knot nematode resistance via host-delivered RNAi-mediated silencing of four Mi-msp genes in Arabidopsis. 61
32771150 2020
9
Insights into the molecular diversity of Plasmodium vivax merozoite surface protein-3γ (pvmsp3γ), a polymorphic member in the msp3 multi-gene family. 61
32620822 2020
10
Measuring antibody avidity to Plasmodium falciparum merozoite antigens using a multiplex immunoassay approach. 61
32357882 2020
11
Schistosoma haematobium infection modulates Plasmodium falciparum parasite density and antimalarial antibody responses. 61
32020650 2020
12
Stage-specific Plasmodium falciparum immune responses in afebrile adults and children living in the Greater Accra Region of Ghana. 61
32041620 2020
13
The immunoglobulin G antibody response to malaria merozoite antigens in asymptomatic children co-infected with malaria and intestinal parasites. 61
33170876 2020
14
Sero-diagnostic potential of Plasmodium falciparum recombinant merozoite surface protein (MSP)-3 expressed in silkworm. 61
31201923 2019
15
Plasmodium falciparum merozoite surface antigen-specific cytophilic IgG and control of malaria infection in a Beninese birth cohort. 61
31185998 2019
16
Immunomodulating effect of a seaweed extract from Ulva armoricana in pig: Specific IgG and total IgA in colostrum, milk, and blood. 61
32734073 2019
17
Transcriptome profiling of Plasmodium vivax in Saimiri monkeys identifies potential ligands for invasion. 61
30872477 2019
18
Anti-MSP11 IgG inhibits Plasmodium falciparum merozoite invasion into erythrocytes in vitro. 61
30385417 2019
19
Analysis of antibody responses to selected Plasmodium falciparum merozoite surface antigens in mild and cerebral malaria and associations with clinical outcomes. 61
30580455 2019
20
A seven-year study on the effect of the pre-erythrocytic malaria vaccine candidate RTS,S/AS01 E on blood stage immunity in young Kenyan children. 61
31168483 2019
21
Association of Antibodies to VAR2CSA and Merozoite Antigens with Pregnancy Outcomes in Women Living in Yaoundé, Cameroon. 61
29986889 2018
22
Plasmodium falciparum MSP3 Exists in a Complex on the Merozoite Surface and Generates Antibody Response during Natural Infection. 61
29760216 2018
23
Identification of target proteins of clinical immunity to Plasmodium falciparum in a region of low malaria transmission. 61
29217416 2018
24
Dynamics of anti-MSP3 and Pfs230 antibody responses and multiplicity of infection in asymptomatic children from southern Ghana. 61
29304870 2018
25
Associations between an IgG3 polymorphism in the binding domain for FcRn, transplacental transfer of malaria-specific IgG3, and protection against Plasmodium falciparum malaria during infancy: A birth cohort study in Benin. 61
28991911 2017
26
Statistical prediction of immunity to placental malaria based on multi-assay antibody data for malarial antigens. 61
28962616 2017
27
The GMZ2 malaria vaccine: from concept to efficacy in humans. 61
28699823 2017
28
Expression, Purification and Characterization of GMZ2'.10C, a Complex Disulphide-Bonded Fusion Protein Vaccine Candidate against the Asexual and Sexual Life-Stages of the Malaria-Causing Plasmodium falciparum Parasite. 61
28646324 2017
29
Antibody responses to P. falciparum blood stage antigens and incidence of clinical malaria in children living in endemic area in Burkina Faso. 61
28886727 2017
30
Natural antibody responses to Plasmodium falciparum MSP3 and GLURP(R0) antigens are associated with low parasite densities in malaria patients living in the Central Region of Ghana. 61
28835262 2017
31
An analytical approach to reduce between-plate variation in multiplex assays that measure antibodies to Plasmodium falciparum antigens. 61
28716094 2017
32
Pooled-DNA sequencing identifies genomic regions of selection in Nigerian isolates of Plasmodium falciparum. 61
28662682 2017
33
Whole-genome sequencing of a Plasmodium vivax clinical isolate exhibits geographical characteristics and high genetic variation in China-Myanmar border area. 61
28166727 2017
34
Individuals living in a malaria-endemic area of Cameroon do not have an acquired antibody response to Plasmodium falciparum histidine-rich protein 2. 61
28148260 2017
35
An outbreak of locally acquired Plasmodium vivax malaria among migrant workers in Oman. 61
28695821 2017
36
Genetic clustering and polymorphism of the merozoite surface protein-3 of Plasmodium knowlesi clinical isolates from Peninsular Malaysia. 61
28049516 2017
37
Merozoite Antigens of Plasmodium falciparum Elicit Strain-Transcending Opsonizing Immunity. 61
27185785 2016
38
Multiple Plasmodium falciparum Merozoite Surface Protein 1 Complexes Mediate Merozoite Binding to Human Erythrocytes. 61
26823464 2016
39
Acquired immune responses to three malaria vaccine candidates and their relationship to invasion inhibition in two populations naturally exposed to malaria. 61
26850066 2016
40
Neutralizing Antibodies against Plasmodium falciparum Associated with Successful Cure after Drug Therapy. 61
27427762 2016
41
Dynamics and role of antibodies to Plasmodium falciparum merozoite antigens in children living in two settings with differing malaria transmission intensity. 61
26541134 2016
42
The Plasmodium gaboni genome illuminates allelic dimorphism of immunologically important surface antigens in P. falciparum. 61
26296605 2015
43
Asymptomatic Plasmodium falciparum infection in children is associated with increased auto-antibody production, high IL-10 plasma levels and antibodies to merozoite surface protein 3. 61
25889717 2015
44
[IgG responses to candidate malaria vaccine antigens in the urban area of Dakar (Senegal): evolution according to age and parasitemia in patients with mild symptoms]. 61
25925805 2015
45
Is Fc gamma receptor IIA (FcγRIIA) polymorphism associated with clinical malaria and Plasmodium falciparum specific antibody levels in children from Burkina Faso? 61
25447268 2015
46
Parasite Specific Antibody Increase Induced by an Episode of Acute P. falciparum Uncomplicated Malaria. 61
25906165 2015
47
Genetic and genomic diversity studies of Acacia symbionts in Senegal reveal new species of Mesorhizobium with a putative geographical pattern. 61
25658650 2015
48
The origin and diversification of the merozoite surface protein 3 (msp3) multi-gene family in Plasmodium vivax and related parasites. 61
24862221 2014
49
New antigens for a multicomponent blood-stage malaria vaccine. 61
25080477 2014
50
Opsonic phagocytosis of Plasmodium falciparum merozoites: mechanism in human immunity and a correlate of protection against malaria. 61
24980799 2014

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 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPA1 NM_031157.4(HNRNPA1):c.941A>T (p.Asp314Val) SNV Pathogenic 65451 rs397518452 GRCh37: 12:54677629-54677629
GRCh38: 12:54283845-54283845
2 HNRNPA1 NM_031157.4(HNRNPA1):c.1018C>G (p.Pro340Ala) SNV Likely pathogenic 637023 rs1592173638 GRCh37: 12:54677706-54677706
GRCh38: 12:54283922-54283922

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3:

72
# Symbol AA change Variation ID SNP ID
1 HNRNPA1 p.Asp314Val VAR_070589 rs397518452

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 3.

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...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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