IBMPFD3
MCID: INC031
MIFTS: 24

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 58 76 30 6 74
Multisystem Proteinopathy 3 58 76
Ibmpfd3 58 76
Msp3 58 76
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 3 41
Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 58
Multisystem Proteinopathy 3; Msp3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 multisystem proteinopathy 3, is related to malaria and plasmodium falciparum 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

Description from OMIM: 615424

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 3 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malaria 10.5
2 plasmodium falciparum malaria 10.3

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 myopathy 33 HP:0003198
2 limb-girdle muscular dystrophy 33 HP:0006785
3 rimmed vacuoles 33 HP:0003805
4 proximal muscle weakness 33 HP:0003701
5 elevated alkaline phosphatase 33 HP:0003155
6 muscle fiber inclusion bodies 33 HP:0100299
7 mildly elevated creatine kinase 33 HP:0008180
8 abnormality of the abdominal musculature 33 HP:0010991

Symptoms via clinical synopsis from OMIM:

58
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,Phase 1 21645-51-2
2 Vaccines Phase 2,Phase 1
3 Immunologic Factors Phase 2,Phase 1
4 Antacids Phase 2,Phase 1
5 Gastrointestinal Agents Phase 2,Phase 1
6 Anti-Ulcer Agents Phase 2,Phase 1
7 Adjuvants, Immunologic Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunogenicity, Efficacy and Safety Study of an MSP3-LSP (Long Synthetic Peptide) Malaria Vaccine Unknown status NCT00652275 Phase 2
2 Proof-of-Concept Study of MSP3-LSP Vaccine to Protect Against Malaria in Africa Completed NCT01341704 Phase 2
3 Phase Ib Trial of MSP3 LSP in Children in Tanzania Unknown status NCT00469651 Phase 1
4 A Phase Ib Trial of MSP 3 LSP in 1-2 Year Old Children in Burkina Faso Unknown status NCT00452088 Phase 1
5 Safety of Recombinant Hybrid GMZ 2 [GLURP + MSP 3] Blood Stage Malaria Vaccine Unknown status NCT00424944 Phase 1
6 GMZ2-Aluminum Hydroxide Phase I, Tübingen Unknown status NCT00397449 Phase 1
7 Safety and Immunogenicity of 30 and 100 µg of GMZ2 in Gabonese Children Aged 1-5 Years Unknown status NCT00703066 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 30 HNRNPA1

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:

42
Bone

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 HNRNPA1 p.Asp314Val VAR_070589 rs397518452

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 Assembly Location
1 HNRNPA1 NM_031157.3(HNRNPA1): c.941A> T (p.Asp314Val) single nucleotide variant Pathogenic rs397518452 GRCh37 Chromosome 12, 54677629: 54677629
2 HNRNPA1 NM_031157.3(HNRNPA1): c.941A> T (p.Asp314Val) single nucleotide variant Pathogenic rs397518452 GRCh38 Chromosome 12, 54283845: 54283845

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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