MCID: INC018
MIFTS: 46

Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare 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 52 58 36 15
Ibmpfd 12 24 52 25 58
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 52 25 71
Pagetoid Amyotrophic Lateral Sclerosis 52 25 58
Pagetoid Neuroskeletal Syndrome 52 25 58
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 24 25
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 24 25
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 52 58
Inclusion Body Myopathy with Paget's Disease of Bone and Frontotemporal Dementia 12
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 25
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 25
Multisystem Proteinopathy 24

Characteristics:

Orphanet epidemiological data:

58

GeneReviews:

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

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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

Genetics Home Reference : 25 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure. About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Rarely, this condition can weaken bones so much that they break (fracture). In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. People with frontotemporal dementia initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Over time, the condition damages parts of the brain that control reasoning, personality, social skills, speech, and language. Personality changes, a loss of judgment, and inappropriate social behavior are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves. People with IBMPFD usually live into their fifties or sixties.

MalaCards based summary : Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia, also known as ibmpfd, is related to dyscalculia and dysgraphia, 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 are Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include bone, brain and heart, and related phenotypes are hyperlordosis and waddling gait

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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52430 Definition Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. Visit the Orphanet disease page for more resources.

KEGG : 36 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.

GeneReviews: NBK1476

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

Diseases related to Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 dyscalculia 31.5 VCP TARDBP CHMP2B
2 dysgraphia 31.4 TARDBP CHMP2B C9orf72
3 agraphia 31.4 TARDBP C9orf72
4 paget's disease of bone 31.4 VCP SQSTM1 HNRNPA2B1 HNRNPA1 GNE
5 semantic dementia 31.4 TARDBP CHMP2B C9orf72
6 nonaka myopathy 31.3 SQSTM1 GNE
7 myopathy 31.2 VCP SQSTM1 MATR3 HNRNPA2B1 HNRNPA1 GNE
8 amyotrophic lateral sclerosis 20 30.8 MATR3 HNRNPA1 C9orf72
9 frontotemporal dementia 30.7 VCP UBQLN2 TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
10 amyotrophic lateral sclerosis 21 30.6 MATR3 FUS
11 motor neuron disease 30.6 VCP TARDBP SQSTM1 FUS C9orf72
12 muscular dystrophy 30.3 VCP MATR3 HNRNPA2B1 HNRNPA1 GNE
13 lateral sclerosis 30.1 VCP UBQLN2 TARDBP SQSTM1 MATR3 HNRNPA1
14 dementia 30.0 VCP UBQLN2 TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
15 amyotrophic lateral sclerosis 1 29.6 VCP UBQLN2 TARDBP SQSTM1 MATR3 HNRNPA2B1
16 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 11.7
17 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 11.7
18 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 11.7
19 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.4
20 spastic paraplegia-paget disease of bone syndrome 10.6 VCP SQSTM1
21 amyotrophic lateral sclerosis, juvenile, with dementia 10.5 VCP C9orf72
22 progressive non-fluent aphasia 10.5 VCP CHMP2B C9orf72
23 myositis 10.5 VCP TARDBP GNE
24 prosopagnosia 10.5 TARDBP CHMP2B C9orf72
25 pseudobulbar palsy 10.5 TARDBP CHMP2B C9orf72
26 progressive bulbar palsy 10.5 TARDBP FUS C9orf72
27 amyotrophic lateral sclerosis type 15 10.5 UBQLN2 CHMP2B C9orf72
28 associative agnosia 10.5 VCP TARDBP CHMP2B C9orf72
29 writing disorder 10.5 VCP TARDBP CHMP2B C9orf72
30 mutism 10.5 TARDBP CHMP2B C9orf72
31 muscular atrophy 10.5 TARDBP HNRNPA1 FUS C9orf72
32 x-linked hereditary ataxia 10.5 HNRNPA2B1 C9orf72 ATXN3
33 amyotrophic lateral sclerosis 18 10.4 UBQLN2 FUS CHMP2B
34 parkinson disease, late-onset 10.4
35 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.4
36 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.4
37 scoliosis 10.4
38 dilated cardiomyopathy 10.4
39 alexia 10.4
40 myofibrillar myopathy 10.4 VCP TARDBP GNE
41 fragile x-associated tremor/ataxia syndrome 10.4 HNRNPA2B1 C9orf72 ATXN3
42 machado-joseph disease 10.4 VCP TARDBP ATXN3
43 inclusion body myositis 10.4 VCP TARDBP SQSTM1 GNE
44 amyotrophic lateral sclerosis 12 10.4 UBQLN2 TARDBP FUS CHMP2B
45 amyotrophic lateral sclerosis 11 10.4 UBQLN2 TARDBP FUS CHMP2B
46 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.4
47 mammary paget's disease 10.4
48 hereditary ataxia 10.4 SQSTM1 H2AC18 ATXN3
49 amyotrophic lateral sclerosis 19 10.4 UBQLN2 TARDBP MATR3 C9orf72
50 amyotrophic lateral sclerosis 4, juvenile 10.4 UBQLN2 TARDBP FUS C9orf72

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:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
3 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
4 rimmed vacuoles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003805
5 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
6 increased variability in muscle fiber diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0003557
7 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
8 ubiquitin-positive cerebral inclusion bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0012083
9 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
10 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
13 frontotemporal dementia 58 31 frequent (33%) Frequent (79-30%) HP:0002145
14 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
15 hip pain 58 31 frequent (33%) Frequent (79-30%) HP:0030838
16 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
17 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
18 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
19 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
20 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
21 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
22 urinary bladder sphincter dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002839
23 sensory axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003390
24 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
25 amyotrophic lateral sclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007354
26 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
27 abnormality of calvarial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002648
28 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
29 calvarial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004490
30 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
31 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
32 dyscalculia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002442
33 abnormality of long bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011314
34 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
35 cranial nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0001293
36 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
37 emg: chronic denervation signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003444
38 weakness of muscles of respiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0004347
39 pathologic fracture 58 31 very rare (1%) Very rare (<4-1%) HP:0002756
40 elevated serum creatine phosphokinase 58 Very frequent (99-80%)
41 increased susceptibility to fractures 58 Occasional (29-5%)
42 abnormality of the vertebral column 58 Frequent (79-30%)
43 emg: neuropathic changes 58 Occasional (29-5%)
44 abnormal motor neuron morphology 58 Occasional (29-5%)

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 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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:

40
Bone, Brain, Heart, Skeletal Muscle, Spinal Cord, Testes

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:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants. 61 24
28322724 2017
2
Motor neuron involvement in multisystem proteinopathy: implications for ALS. 61 24
23635965 2013
3
Phenotypic variability in three families with valosin-containing protein mutation. 61 24
22900631 2013
4
Exome sequencing reveals VCP mutations as a cause of familial ALS. 61 24
21145000 2010
5
Imbalances in p97 co-factor interactions in human proteinopathy. 61 24
20414249 2010
6
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. 61 24
20335036 2010
7
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. 61 24
20410287 2010
8
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 61 24
19704082 2009
9
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. 61 24
19372299 2009
10
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. 61 24
19208399 2009
11
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 61 24
18796596 2008
12
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 61 24
18260132 2008
13
Pathological consequences of VCP mutations on human striated muscle. 61 24
16984901 2007
14
Valosin-containing protein gene mutations: clinical and neuropathologic features. 61 24
16790606 2006
15
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. 61 24
16783167 2006
16
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 61 24
16247064 2005
17
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 24
28692196 2018
18
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. 24
28724584 2017
19
Timing, rates and spectra of human germline mutation. 24
26656846 2016
20
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. 24
25716352 2015
21
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 24
23455423 2013
22
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 24
22270372 2012
23
Mutational analysis of the VCP gene in Parkinson's disease. 24
21920633 2012
24
Valosin-containing protein mutation and Parkinson's disease. 24
21816654 2012
25
Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation. 24
19506019 2009
26
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. 24
17279000 2007
27
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. 24
12351995 2002
28
Protein dislocation from the endoplasmic reticulum--pulling out the suspect. 24
12121416 2002
29
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 24
11891683 2002
30
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation. 24
11756557 2002
31
Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly. 24
11781570 2001
32
Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone. 24
11733065 2001
33
Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. 24
11483959 2001
34
Structure of the AAA ATPase p97. 24
11163219 2000
35
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 24
11252708 2000
36
A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways. 24
10811609 2000
37
Syntaxin 5 is a common component of the NSF- and p97-mediated reassembly pathways of Golgi cisternae from mitotic Golgi fragments in vitro. 24
9506515 1998
38
p47 is a cofactor for p97-mediated membrane fusion. 24
9214505 1997
39
A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. 24
9109881 1997
40
VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology. 61
31091164 2019
41
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. 61
30654731 2019
42
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? 61
30100055 2018
43
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene. 61
30097247 2018
44
[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy]. 61
30029282 2018
45
ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. 61
29804830 2018
46
A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation. 61
29127544 2018
47
Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo. 61
30010465 2018
48
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy. 61
29899994 2018
49
The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders. 61
29310658 2018
50
Valosin-containing protein (VCP) is a novel IQ motif-containing GTPase activating protein 1 (IQGAP1)-interacting protein. 61
28970065 2017

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 11.45 VCP UFD1 UBXN6 UBQLN2 UBE4B SVIP
2
Show member pathways
11.26 VCP UFD1 NPLOC4 ATXN3
3 10.23 VCP ATXN3

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 nucleus GO:0005634 10.06 VCP UFD1 UBXN6 UBQLN2 UBE4B UBE4A
2 extracellular exosome GO:0070062 10.03 VCP UBXN6 SVIP SQSTM1 HNRNPA2B1 HNRNPA1
3 cytoplasm GO:0005737 9.89 VCP UNC45B UFD1 UBXN6 UBQLN2 UBE4B
4 nuclear matrix GO:0016363 9.58 MATR3 HNRNPA2B1 ATXN3
5 autophagosome GO:0005776 9.54 UBQLN2 SQSTM1 C9orf72
6 cytoplasmic stress granule GO:0010494 9.5 VCP TARDBP C9orf72
7 UFD1-NPL4 complex GO:0036501 9.26 UFD1 NPLOC4
8 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 8.8 VCP UFD1 NPLOC4

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.83 TARDBP HNRNPA2B1 HNRNPA1 FUS
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.72 VCP UFD1 UBE4B NPLOC4 ATXN3
3 macroautophagy GO:0016236 9.71 VCP UBXN6 SQSTM1 CHMP2B
4 autophagy GO:0006914 9.55 VCP UBQLN2 SQSTM1 CHMP2B C9orf72
5 ERAD pathway GO:0036503 9.54 VCP UBXN6
6 error-free translesion synthesis GO:0070987 9.54 VCP UFD1 NPLOC4
7 gene expression GO:0010467 9.51 TARDBP FUS
8 regulation of autophagosome assembly GO:2000785 9.49 UBQLN2 C9orf72
9 ER-associated misfolded protein catabolic process GO:0071712 9.48 VCP UFD1
10 negative regulation of RIG-I signaling pathway GO:0039536 9.46 UFD1 NPLOC4
11 endosome to lysosome transport via multivesicular body sorting pathway GO:0032510 9.43 VCP UBXN6
12 retrograde protein transport, ER to cytosol GO:0030970 9.43 VCP UFD1 NPLOC4
13 ubiquitin-dependent ERAD pathway GO:0030433 9.35 VCP UBQLN2 UBE4B UBE4A NPLOC4
14 ubiquitin-dependent protein catabolic process GO:0006511 9.23 VCP UFD1 UBQLN2 UBE4B UBE4A SQSTM1

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 protein binding GO:0005515 9.93 VCP UNC45B UFD1 UBXN6 UBQLN2 UBE4B
2 ubiquitin protein ligase binding GO:0031625 9.76 VCP SQSTM1 NPLOC4 ATXN3
3 mRNA 3'-UTR binding GO:0003730 9.58 TARDBP HNRNPA2B1 FUS
4 ubiquitin-ubiquitin ligase activity GO:0034450 9.43 UBE4B UBE4A
5 G-rich strand telomeric DNA binding GO:0098505 9.37 HNRNPA2B1 HNRNPA1
6 miRNA binding GO:0035198 9.33 MATR3 HNRNPA2B1 HNRNPA1
7 pre-mRNA intronic binding GO:0097157 9.32 TARDBP HNRNPA2B1
8 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 9.26 VCP UFD1
9 ATPase binding GO:0051117 8.92 UFD1 UBE4B SVIP ATXN3

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

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