MCID: INC018
MIFTS: 37

Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia

Categories: Bone diseases, Mental diseases

Aliases & Classifications for Inclusion Body Myopathy with Paget Disease of Bone and...

MalaCards integrated aliases for Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

Name: Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 12 37 15
Ibmpfd 12 24
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 24
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 73
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 24
Inclusion Body Myopathy with Paget's Disease of Bone and Frontotemporal Dementia 12

Characteristics:

GeneReviews:

24
Penetrance Penetrance is almost complete; however, it is age related...

Classifications:



Summaries for Inclusion Body Myopathy with Paget Disease of Bone and...

Disease Ontology : 12 A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has material basis in mutation in the valosin containing protein.

MalaCards based summary : Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia, also known as ibmpfd, is related to motor neuron disease and inclusion body myopathy with early-onset paget disease and frontotemporal dementia, and has symptoms including back pain and hip pain. An important gene associated with Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia is VCP (Valosin Containing Protein), and among its related pathways/superpathways is Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include bone, brain and heart, and related phenotypes are brain atrophy and intellectual disability

GeneReviews: NBK1476

Related Diseases for Inclusion Body Myopathy with Paget Disease of Bone and...

Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:



Diseases related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia

Symptoms & Phenotypes for Inclusion Body Myopathy with Paget Disease of Bone and...

Human phenotypes related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 frequent (33%) HP:0012444
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 hyperlordosis 32 hallmark (90%) HP:0003307
4 cataract 32 occasional (7.5%) HP:0000518
5 short stature 32 frequent (33%) HP:0004322
6 elevated serum creatine phosphokinase 32 hallmark (90%) HP:0003236
7 congestive heart failure 32 occasional (7.5%) HP:0001635
8 pathologic fracture 32 very rare (1%) HP:0002756
9 hepatic steatosis 32 occasional (7.5%) HP:0001397
10 cardiomyopathy 32 occasional (7.5%) HP:0001638
11 urinary bladder sphincter dysfunction 32 occasional (7.5%) HP:0002839
12 sensory axonal neuropathy 32 occasional (7.5%) HP:0003390
13 waddling gait 32 hallmark (90%) HP:0002515
14 rimmed vacuoles 32 hallmark (90%) HP:0003805
15 aphasia 32 occasional (7.5%) HP:0002381
16 amyotrophic lateral sclerosis 32 occasional (7.5%) HP:0007354
17 fasciculations 32 occasional (7.5%) HP:0002380
18 osteolysis 32 frequent (33%) HP:0002797
19 proximal muscle weakness 32 hallmark (90%) HP:0003701
20 increased variability in muscle fiber diameter 32 hallmark (90%) HP:0003557
21 abnormality of calvarial morphology 32 occasional (7.5%) HP:0002648
22 generalized amyotrophy 32 occasional (7.5%) HP:0003700
23 distal muscle weakness 32 hallmark (90%) HP:0002460
24 calvarial hyperostosis 32 occasional (7.5%) HP:0004490
25 language impairment 32 occasional (7.5%) HP:0002463
26 frontotemporal dementia 32 frequent (33%) HP:0002145
27 elevated alkaline phosphatase 32 frequent (33%) HP:0003155
28 dyscalculia 32 occasional (7.5%) HP:0002442
29 motor axonal neuropathy 32 occasional (7.5%) HP:0007002
30 abnormality of long bone morphology 32 occasional (7.5%) HP:0011314
31 mutism 32 occasional (7.5%) HP:0002300
32 cranial nerve compression 32 occasional (7.5%) HP:0001293
33 upper motor neuron dysfunction 32 occasional (7.5%) HP:0002493
34 fatty replacement of skeletal muscle 32 occasional (7.5%) HP:0012548
35 hip pain 32 frequent (33%) HP:0030838
36 emg 32 occasional (7.5%) HP:0003444
37 weakness of muscles of respiration 32 occasional (7.5%) HP:0004347
38 ubiquitin-positive cerebral inclusion bodies 32 hallmark (90%) HP:0012083

UMLS symptoms related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:


back pain, hip pain

GenomeRNAi Phenotypes related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.02 GNE NDUFB6 TARDBP UFD1 VCP

MGI Mouse Phenotypes related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 GNE RTN2 TARDBP VCP

Drugs & Therapeutics for Inclusion Body Myopathy with Paget Disease of Bone and...

Search Clinical Trials , NIH Clinical Center for Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia

Genetic Tests for Inclusion Body Myopathy with Paget Disease of Bone and...

Anatomical Context for Inclusion Body Myopathy with Paget Disease of Bone and...

MalaCards organs/tissues related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

41
Bone, Brain, Heart, Skeletal Muscle

Publications for Inclusion Body Myopathy with Paget Disease of Bone and...

Articles related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

# Title Authors Year
1
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. ( 27312024 )
2016
2
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. ( 27768726 )
2016
3
Correction: IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. ( 27861584 )
2016
4
Proteomic analysis of a drosophila IBMPFD model reveals potential pathogenic mechanisms. ( 22481368 )
2012
5
Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs. ( 22728077 )
2012
6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. ( 21320982 )
2011
7
Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model. ( 21304887 )
2011
8
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. ( 19208399 )
2009
9
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. ( 19372299 )
2009

Variations for Inclusion Body Myopathy with Paget Disease of Bone and...

Expression for Inclusion Body Myopathy with Paget Disease of Bone and...

Search GEO for disease gene expression data for Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia.

Pathways for Inclusion Body Myopathy with Paget Disease of Bone and...

Pathways related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.62 UFD1 VCP

GO Terms for Inclusion Body Myopathy with Paget Disease of Bone and...

Cellular components related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 8.62 UFD1 VCP

Biological processes related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 error-free translesion synthesis GO:0070987 9.16 UFD1 VCP
2 retrograde protein transport, ER to cytosol GO:0030970 8.96 UFD1 VCP
3 ER-associated misfolded protein catabolic process GO:0071712 8.62 UFD1 VCP

Molecular functions related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 8.62 UFD1 VCP

Sources for Inclusion Body Myopathy with Paget Disease of Bone and...

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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