MCID: INC031
MIFTS: 20

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

Categories: 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 75 29 6 73
Multisystem Proteinopathy 3 57 75
Ibmpfd3 57 75
Msp3 57 75
Myopathy, Inclusion Body, with Early-Onset Paget Disease with or Without Frontotemporal Dementia, Type 3 40
Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 57
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:

OMIM 57 615424
UMLS 73 C3809469

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

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include bone, and related phenotypes are elevated alkaline phosphatase and myopathy

Description from OMIM: 615424

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

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 10.2
2 plasmodium falciparum malaria 10.1
3 aging 9.9

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

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

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 elevated alkaline phosphatase 32 HP:0003155
2 myopathy 32 HP:0003198
3 proximal muscle weakness 32 HP:0003701
4 rimmed vacuoles 32 HP:0003805
5 limb-girdle muscular dystrophy 32 HP:0006785
6 mildly elevated creatine phosphokinase 32 HP:0008180
7 abnormality of the abdominal musculature 32 HP:0010991
8 muscle fiber inclusion bodies 32 HP:0100299

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 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

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

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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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