IBMPFD3
MCID: INC031
MIFTS: 32

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

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 3:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 57 74 29 6 72
Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 57 29
Multisystem Proteinopathy 3 57 74
Ibmpfd3 57 74
Msp3 57 74
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 3 40
Multisystem Proteinopathy 3; Msp3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

UMLS 72 C3809469

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 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 malaria and inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2. 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, testes and monocytes, 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 malaria 10.5
2 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.4
3 plasmodium falciparum malaria 10.4
4 tetanus 10.3
5 rapidly involuting congenital hemangioma 10.2

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 32 HP:0003198
2 limb-girdle muscular dystrophy 32 HP:0006785
3 rimmed vacuoles 32 HP:0003805
4 proximal muscle weakness 32 HP:0003701
5 elevated alkaline phosphatase 32 HP:0003155
6 muscle fiber inclusion bodies 32 HP:0100299
7 mildly elevated creatine kinase 32 HP:0008180
8 abnormality of the abdominal musculature 32 HP:0010991

Symptoms via clinical synopsis from OMIM:

57
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

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):

(show all 7)
# 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 2
4 Gastrointestinal Agents Phase 2
5 Antacids Phase 2
6 Adjuvants, Immunologic Phase 2
7 Anti-Ulcer Agents Phase 2

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
5 A Phase I, Randomized, Controlled, Double-Blind, Single Centre Trial to Evaluate the Safety and Immunogenicity of 30 and 100 µg of GMZ2 in Gabonese Children Aged 1-5 Years Unknown status NCT00703066 Phase 1
6 A Single Centre, Randomised Controlled Trial to Evaluate the Safety and Immunogenicity of Recombinant Lactococcus Lactis Hybrid GMZ 2 [GLURP + MSP 3] Blood Stage Malaria Vaccine Versus Rabies Vaccine in Healthy Gabonese Adult Volunteers Unknown status NCT00424944 Phase 1
7 Randomized, Controlled, Dose Escalation Phase Ib Trial of MSP 3 LSP Adjuvanted in Aluminium Hydroxide Versus Hepatitis Bin 12 to 24 Month Old Children in Burkina Faso. Unknown status NCT00452088 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:

41
Bone, Testes, Monocytes

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 136)
# Title Authors PMID Year
1
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 8 71
23455423 2013
2
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 8 71
20116073 2010
3
ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1. 71
25616961 2015
4
No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. 8
24612671 2014
5
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes. 8
24119545 2014
6
Sero-diagnostic potential of Plasmodium falciparum recombinant merozoite surface protein (MSP)-3 expressed in silkworm. 38
31201923 2019
7
Plasmodium falciparum merozoite surface antigen-specific cytophilic IgG and control of malaria infection in a Beninese birth cohort. 38
31185998 2019
8
Analysis of antibody responses to selected Plasmodium falciparum merozoite surface antigens in mild and cerebral malaria and associations with clinical outcomes. 38
30580455 2019
9
Transcriptome profiling of Plasmodium vivax in Saimiri monkeys identifies potential ligands for invasion. 38
30872477 2019
10
Anti-MSP11 IgG inhibits Plasmodium falciparum merozoite invasion into erythrocytes in vitro. 38
30385417 2019
11
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. 38
31168483 2019
12
Controlled human malaria infection of healthy lifelong malaria-exposed adults to assess safety, immunogenicity and efficacy of the asexual blood stage malaria vaccine candidate GMZ2. 38
30561539 2018
13
Association of Antibodies to VAR2CSA and Merozoite Antigens with Pregnancy Outcomes in Women Living in Yaoundé, Cameroon. 38
29986889 2018
14
Plasmodium falciparum MSP3 Exists in a Complex on the Merozoite Surface and Generates Antibody Response during Natural Infection. 38
29760216 2018
15
Identification of target proteins of clinical immunity to Plasmodium falciparum in a region of low malaria transmission. 38
29217416 2018
16
Dynamics of anti-MSP3 and Pfs230 antibody responses and multiplicity of infection in asymptomatic children from southern Ghana. 38
29304870 2018
17
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. 38
28991911 2017
18
The GMZ2 malaria vaccine: from concept to efficacy in humans. 38
28699823 2017
19
Statistical prediction of immunity to placental malaria based on multi-assay antibody data for malarial antigens. 38
28962616 2017
20
Antibody responses to P. falciparum blood stage antigens and incidence of clinical malaria in children living in endemic area in Burkina Faso. 38
28886727 2017
21
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. 38
28646324 2017
22
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. 38
28835262 2017
23
An analytical approach to reduce between-plate variation in multiplex assays that measure antibodies to Plasmodium falciparum antigens. 38
28716094 2017
24
Pooled-DNA sequencing identifies genomic regions of selection in Nigerian isolates of Plasmodium falciparum. 38
28662682 2017
25
Whole-genome sequencing of a Plasmodium vivax clinical isolate exhibits geographical characteristics and high genetic variation in China-Myanmar border area. 38
28166727 2017
26
Individuals living in a malaria-endemic area of Cameroon do not have an acquired antibody response to Plasmodium falciparum histidine-rich protein 2. 38
28148260 2017
27
An outbreak of locally acquired Plasmodium vivax malaria among migrant workers in Oman. 38
28695821 2017
28
Genetic clustering and polymorphism of the merozoite surface protein-3 of Plasmodium knowlesi clinical isolates from Peninsular Malaysia. 38
28049516 2017
29
Merozoite Antigens of Plasmodium falciparum Elicit Strain-Transcending Opsonizing Immunity. 38
27185785 2016
30
Multiple Plasmodium falciparum Merozoite Surface Protein 1 Complexes Mediate Merozoite Binding to Human Erythrocytes. 38
26823464 2016
31
Acquired immune responses to three malaria vaccine candidates and their relationship to invasion inhibition in two populations naturally exposed to malaria. 38
26850066 2016
32
Dynamics and role of antibodies to Plasmodium falciparum merozoite antigens in children living in two settings with differing malaria transmission intensity. 38
26541134 2016
33
Neutralizing Antibodies against Plasmodium falciparum Associated with Successful Cure after Drug Therapy. 38
27427762 2016
34
The Plasmodium gaboni genome illuminates allelic dimorphism of immunologically important surface antigens in P. falciparum. 38
26296605 2015
35
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. 38
25889717 2015
36
[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]. 38
25925805 2015
37
Is Fc gamma receptor IIA (FcγRIIA) polymorphism associated with clinical malaria and Plasmodium falciparum specific antibody levels in children from Burkina Faso? 38
25447268 2015
38
Parasite Specific Antibody Increase Induced by an Episode of Acute P. falciparum Uncomplicated Malaria. 38
25906165 2015
39
Genetic and genomic diversity studies of Acacia symbionts in Senegal reveal new species of Mesorhizobium with a putative geographical pattern. 38
25658650 2015
40
The origin and diversification of the merozoite surface protein 3 (msp3) multi-gene family in Plasmodium vivax and related parasites. 38
24862221 2014
41
Opsonic phagocytosis of Plasmodium falciparum merozoites: mechanism in human immunity and a correlate of protection against malaria. 38
24980799 2014
42
New antigens for a multicomponent blood-stage malaria vaccine. 38
25080477 2014
43
A unique missense allele of BAF155, a core BAF chromatin remodeling complex protein, causes neural tube closure defects in mice. 38
24170322 2014
44
Sequential processing of merozoite surface proteins during and after erythrocyte invasion by Plasmodium falciparum. 38
24218484 2014
45
Plasmodium falciparum merozoite surface protein 3: oligomerization, self-assembly, and heme complex formation. 38
24362023 2014
46
Plasmodium falciparum malaria in children aged 0-2 years: the role of foetal haemoglobin and maternal antibodies to two asexual malaria vaccine candidates (MSP3 and GLURP). 38
25238160 2014
47
The malaria vaccine candidate GMZ2 elicits functional antibodies in individuals from malaria endemic and non-endemic areas. 38
23624363 2013
48
Motor neuron involvement in multisystem proteinopathy: implications for ALS. 38
23635965 2013
49
Humoral immune response to Plasmodium falciparum vaccine candidate GMZ2 and its components in populations naturally exposed to seasonal malaria in Ethiopia. 38
23383869 2013
50
Development and evaluation of a multiplex screening assay for Plasmodium falciparum exposure. 38
22835432 2012

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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNRNPA1 NM_031157.4(HNRNPA1): c.941A> T (p.Asp314Val) single nucleotide variant Pathogenic rs397518452 12:54677629-54677629 12:54283845-54283845
2 HNRNPA1 NM_031157.4(HNRNPA1): c.1018C> G (p.Pro340Ala) single nucleotide variant Likely pathogenic 12:54677706-54677706 12:54283922-54283922

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

74
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....