MCID: INC018
MIFTS: 51

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 20 58 36 15
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 20 43 29 6 70
Ibmpfd 12 25 20 43 58
Pagetoid Amyotrophic Lateral Sclerosis 20 43 58
Pagetoid Neuroskeletal Syndrome 20 43 58
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 25 43
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 25 43
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 20 58
Myopathy, Inclusion Body, with Early-Onset Paget Disease and Frontotemporal Dementia 39
Inclusion Body Myopathy with Paget's Disease of Bone and Frontotemporal Dementia 12
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 43
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 43
Multisystem Proteinopathy 25

Characteristics:

Orphanet epidemiological data:

58

GeneReviews:

25
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...

MedlinePlus Genetics : 43 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 inclusion body myopathy with early-onset paget disease and frontotemporal dementia, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 and inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2, 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 elevated serum creatine kinase

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.

GARD : 20 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.

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 88)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 33.0 XPO1 SENP7 HNRNPA2B1 GYPA DHFR AKR1C2
2 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 32.9 XPO1 HSPD1 H2AC18 GYPA DHFR CD4
3 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 32.7 XPO1 VCP SENP7 KRT31 GYPA DHFR
4 multisystem proteinopathy 32.4 VCP UFD1 UBXN6 TARDBP NPLOC4 HNRNPA2B1
5 paget's disease of bone 31.6 VCP HNRNPA2B1 HNRNPA1
6 frontotemporal dementia 31.6 VCP TARDBP HNRNPA2B1 HNRNPA1 CHMP2B
7 alexia 31.5 VCP TARDBP
8 dyscalculia 31.5 VCP TARDBP CHMP2B
9 agraphia 31.5 VCP TARDBP
10 nonaka myopathy 31.4 VCP UNC45B TARDBP
11 dysgraphia 31.4 TARDBP CHMP2B
12 semantic dementia 31.4 TARDBP CHMP2B
13 dementia 31.4 VCP TARDBP HNRNPA2B1 HNRNPA1 CHMP2B
14 amyotrophic lateral sclerosis 1 30.8 VCP TARDBP HNRNPA2B1 HNRNPA1 H2AC18 CHMP2B
15 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.7 VCP TARDBP HNRNPA2B1 HNRNPA1 CHMP2B
16 motor neuron disease 30.7 VCP TARDBP HNRNPA1 H2AC18 CHMP2B
17 aphasia 30.6 VCP TARDBP CHMP2B
18 lateral sclerosis 30.5 VCP TARDBP HNRNPA1 CHMP2B
19 supranuclear palsy, progressive, 1 30.5 VCP TARDBP CHMP2B
20 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 11.5
21 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 11.5
22 myopathy, distal, with rimmed vacuoles 11.3
23 myopathy 10.6
24 epithelial-stromal tgfbi dystrophy 10.5 HNRNPA2B1 HNRNPA1 H2AC18
25 associative agnosia 10.5 VCP TARDBP CHMP2B
26 nominal aphasia 10.5 VCP TARDBP CHMP2B
27 lattice corneal dystrophy 10.5 HNRNPA2B1 HNRNPA1 H2AC18
28 dermatopathia pigmentosa reticularis 10.5 TARDBP HNRNPA1 H2AC18
29 carrion's disease 10.5 HSPD1 GYPA
30 writing disorder 10.5 VCP TARDBP CHMP2B
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.5 VCP TARDBP CHMP2B
32 autoimmune atherosclerosis 10.5 HSPD1 CD4
33 progressive muscular atrophy 10.5 VCP TARDBP CHMP2B
34 perry syndrome 10.5 VCP TARDBP CHMP2B
35 bacillary angiomatosis 10.5 HSPD1 CD4
36 spinocerebellar ataxia 2 10.5 TARDBP HNRNPA2B1 HNRNPA1
37 progressive non-fluent aphasia 10.5 VCP CHMP2B
38 opportunistic bacterial infectious disease 10.5 HSPD1 CD4
39 scoliosis 10.5
40 dilated cardiomyopathy 10.5
41 nocardiosis 10.5 HSPD1 CD4
42 amyotrophic lateral sclerosis type 14 10.5 VCP CHMP2B
43 amyotrophic lateral sclerosis type 6 10.5 VCP TARDBP H2AC18 CHMP2B
44 coccidiosis 10.5 H2AC18 DHFR CD4
45 commensal bacterial infectious disease 10.5 HSPD1 H2AC18 CD4
46 testicular disease 10.5 HSPD1 H2AC18 CD4
47 endemic typhus 10.5 HSPD1 H2AC18
48 prosopagnosia 10.5 TARDBP CHMP2B
49 dementia, lewy body 10.5 VCP TARDBP H2AC18 CHMP2B
50 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.5

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 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
3 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
4 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
5 rimmed vacuoles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003805
6 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
7 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
8 increased variability in muscle fiber diameter 58 31 hallmark (90%) Very frequent (99-80%) HP:0003557
9 ubiquitin-positive cerebral inclusion bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0012083
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
12 hip pain 58 31 frequent (33%) Frequent (79-30%) HP:0030838
13 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
14 elevated alkaline phosphatase 58 31 frequent (33%) Frequent (79-30%) HP:0003155
15 frontotemporal dementia 58 31 frequent (33%) Frequent (79-30%) HP:0002145
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 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
19 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
20 fasciculations 58 31 occasional (7.5%) Occasional (29-5%) HP:0002380
21 upper motor neuron dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002493
22 abnormality of calvarial morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002648
23 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
24 calvarial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004490
25 aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002381
26 abnormality of long bone morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0011314
27 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
28 motor axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007002
29 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
30 urinary bladder sphincter dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002839
31 weakness of muscles of respiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0004347
32 language impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002463
33 emg: chronic denervation signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003444
34 dyscalculia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002442
35 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
36 sensory axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003390
37 amyotrophic lateral sclerosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007354
38 cranial nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0001293
39 pathologic fracture 58 31 very rare (1%) Very rare (<4-1%) HP:0002756
40 abnormality of the vertebral column 58 Frequent (79-30%)
41 increased susceptibility to fractures 58 Occasional (29-5%)
42 emg: neuropathic changes 58 Occasional (29-5%)
43 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 Decreased viability GR00221-A-3 10 HNRNPA2B1
2 Decreased viability GR00221-A-4 10 HNRNPA2B1
3 Decreased viability GR00249-S 10 DHFR SENP7
4 Decreased viability GR00342-S-2 10 CD4
5 Decreased viability GR00381-A-1 10 ATAD1 CYP1A1 DHFR UBXN6 UFD1 VCP
6 Decreased viability GR00386-A-1 10 ATAD1 CHMP2B CYP1A1 GYPA HNRNPA2B1 XPO1
7 Decreased viability GR00402-S-2 10 HNRNPA2B1 UBXN6 UFD1 VCP XPO1
8 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 Natural History of Disease Progression in Individuals With a Confirmed Diagnosis of Disease Caused by Mutation of the Valosin Containing Protein (VCP) Gene Recruiting NCT04823143

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...

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

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 29 HNRNPA1 HNRNPA2B1 VCP

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

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 71)
# Title Authors PMID Year
1
Phenotypic variability in three families with valosin-containing protein mutation. 6 25
22900631 2013
2
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 6 25
22270372 2012
3
Exome sequencing reveals VCP mutations as a cause of familial ALS. 25 6
21145000 2010
4
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 6 25
19704082 2009
5
Pathological consequences of VCP mutations on human striated muscle. 25 6
16984901 2007
6
Valosin-containing protein gene mutations: clinical and neuropathologic features. 25 6
16790606 2006
7
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 25 6
16247064 2005
8
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 6 61
25492614 2014
9
Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. 6
28360103 2017
10
Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 6
27226613 2016
11
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. 6
26105173 2016
12
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. 6
27768726 2016
13
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. 6
26555887 2015
14
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. 6
25617006 2015
15
Altered cofactor regulation with disease-associated p97/VCP mutations. 6
25775548 2015
16
Global gene expression profiling in R155H knock-in murine model of VCP disease. 6
25388089 2015
17
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. 6
25125609 2014
18
Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. 6
24829604 2014
19
Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. 6
24196964 2013
20
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. 6
22909335 2013
21
Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. 6
23498975 2013
22
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. 6
23333620 2013
23
VCP mutations in familial and sporadic amyotrophic lateral sclerosis. 6
22078486 2012
24
The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. 6
23029473 2012
25
Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. 6
23056506 2012
26
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 6
21984748 2012
27
Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. 6
20604808 2010
28
Imbalances in p97 co-factor interactions in human proteinopathy. 25 61
20414249 2010
29
VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. 6
19237541 2009
30
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. 6
19364651 2009
31
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 25
19208399 2009
32
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 6
19225410 2009
33
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene. 6
17763460 2008
34
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 6
15034582 2004
35
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 25
28692196 2018
36
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. 25
28724584 2017
37
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants. 25
28322724 2017
38
Timing, rates and spectra of human germline mutation. 25
26656846 2016
39
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. 25
25716352 2015
40
Motor neuron involvement in multisystem proteinopathy: implications for ALS. 25
23635965 2013
41
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 25
23455423 2013
42
Mutational analysis of the VCP gene in Parkinson's disease. 25
21920633 2012
43
Valosin-containing protein mutation and Parkinson's disease. 25
21816654 2012
44
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. 25
20335036 2010
45
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. 25
20410287 2010
46
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. 25
19506019 2009
47
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. 25
19372299 2009
48
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 25
18796596 2008
49
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 25
18260132 2008
50
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. 25
17279000 2007

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

ClinVar genetic disease variations for Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His) SNV Pathogenic 8468 rs121909329 GRCh37: 9:35065360-35065360
GRCh38: 9:35065363-35065363
2 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 GRCh37: 9:35065252-35065252
GRCh38: 9:35065255-35065255
3 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His) SNV Pathogenic 8474 rs121909335 GRCh37: 9:35065348-35065348
GRCh38: 9:35065351-35065351
4 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic 8469 rs121909330 GRCh37: 9:35065361-35065361
GRCh38: 9:35065364-35065364
5 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely pathogenic 280124 rs121909332 GRCh37: 9:35067907-35067907
GRCh38: 9:35067910-35067910
6 VCP NM_007126.5(VCP):c.767G>A (p.Arg256Gln) SNV Uncertain significance 946240 GRCh37: 9:35063019-35063019
GRCh38: 9:35063022-35063022
7 VCP NM_007126.5(VCP):c.697A>G (p.Ile233Val) SNV Uncertain significance 913795 GRCh37: 9:35064162-35064162
GRCh38: 9:35064165-35064165
8 VCP NM_007126.5(VCP):c.1242G>A (p.Leu414=) SNV Uncertain significance 594371 rs375262833 GRCh37: 9:35061129-35061129
GRCh38: 9:35061132-35061132
9 VCP NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) SNV Uncertain significance 952496 GRCh37: 9:35057494-35057494
GRCh38: 9:35057497-35057497
10 VCP NM_007126.5(VCP):c.313T>C (p.Cys105Arg) SNV Uncertain significance 960799 GRCh37: 9:35066804-35066804
GRCh38: 9:35066807-35066807
11 VCP NM_007126.5(VCP):c.1324A>G (p.Met442Val) SNV Uncertain significance 961078 GRCh37: 9:35061047-35061047
GRCh38: 9:35061050-35061050
12 VCP NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) SNV Uncertain significance 963526 GRCh37: 9:35061662-35061662
GRCh38: 9:35061665-35061665
13 VCP NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) SNV Uncertain significance 966733 GRCh37: 9:35059089-35059089
GRCh38: 9:35059092-35059092
14 VCP NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) SNV Uncertain significance 972527 GRCh37: 9:35059630-35059630
GRCh38: 9:35059633-35059633
15 VCP NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) SNV Uncertain significance 1000668 GRCh37: 9:35066716-35066716
GRCh38: 9:35066719-35066719
16 VCP NM_007126.5(VCP):c.265C>T (p.Arg89Trp) SNV Uncertain significance 1010487 GRCh37: 9:35067925-35067925
GRCh38: 9:35067928-35067928
17 VCP NM_007126.5(VCP):c.460G>T (p.Val154Phe) SNV Uncertain significance 1013993 GRCh37: 9:35065364-35065364
GRCh38: 9:35065367-35065367
18 VCP NM_007126.5(VCP):c.237T>A (p.Asp79Glu) SNV Uncertain significance 1014881 GRCh37: 9:35067953-35067953
GRCh38: 9:35067956-35067956
19 VCP NM_007126.5(VCP):c.94A>G (p.Ile32Val) SNV Uncertain significance 1019616 GRCh37: 9:35068283-35068283
GRCh38: 9:35068286-35068286
20 VCP NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) SNV Uncertain significance 1022767 GRCh37: 9:35061624-35061624
GRCh38: 9:35061627-35061627
21 VCP NM_007126.5(VCP):c.268A>G (p.Asn90Asp) SNV Uncertain significance 1024805 GRCh37: 9:35067922-35067922
GRCh38: 9:35067925-35067925
22 VCP NM_007126.5(VCP):c.577-2A>G SNV Uncertain significance 1038018 GRCh37: 9:35064284-35064284
GRCh38: 9:35064287-35064287
23 VCP NM_007126.5(VCP):c.2126G>A (p.Arg709Gln) SNV Uncertain significance 1039720 GRCh37: 9:35059095-35059095
GRCh38: 9:35059098-35059098
24 VCP NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) SNV Uncertain significance 1039996 GRCh37: 9:35061053-35061053
GRCh38: 9:35061056-35061056
25 VCP NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) SNV Uncertain significance 594143 rs1563977665 GRCh37: 9:35061612-35061612
GRCh38: 9:35061615-35061615
26 VCP NM_007126.5(VCP):c.331G>A (p.Gly111Ser) SNV Uncertain significance 1043684 GRCh37: 9:35066786-35066786
GRCh38: 9:35066789-35066789
27 VCP NM_007126.5(VCP):c.130-3C>T SNV Uncertain significance 1045485 GRCh37: 9:35068063-35068063
GRCh38: 9:35068066-35068066
28 overlap with 17 genes NC_000009.11:g.(?_34458994)_(35072710_?)dup Duplication Uncertain significance 1042271 GRCh37: 9:34458994-35072710
GRCh38:
29 VCP NM_007126.5(VCP):c.512G>A (p.Ser171Asn) SNV Uncertain significance 1053574 GRCh37: 9:35065312-35065312
GRCh38: 9:35065315-35065315
30 VCP NM_007126.5(VCP):c.2345G>T (p.Gly782Val) SNV Uncertain significance 1058517 GRCh37: 9:35057190-35057190
GRCh38: 9:35057193-35057193
31 VCP NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) SNV Uncertain significance 940463 GRCh37: 9:35057446-35057446
GRCh38: 9:35057449-35057449
32 VCP NM_007126.5(VCP):c.377T>G (p.Ile126Ser) SNV Uncertain significance 942237 GRCh37: 9:35066740-35066740
GRCh38: 9:35066743-35066743
33 VCP NM_007126.5(VCP):c.523A>G (p.Ile175Val) SNV Uncertain significance 942537 GRCh37: 9:35065301-35065301
GRCh38: 9:35065304-35065304
34 VCP NM_007126.5(VCP):c.453T>G (p.Ile151Met) SNV Uncertain significance 942825 GRCh37: 9:35065371-35065371
GRCh38: 9:35065374-35065374
35 VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile) SNV Uncertain significance 640109 rs200911363 GRCh37: 9:35065312-35065312
GRCh38: 9:35065315-35065315
36 VCP NM_007126.5(VCP):c.340A>G (p.Ile114Val) SNV Uncertain significance 597496 rs549915384 GRCh37: 9:35066777-35066777
GRCh38: 9:35066780-35066780
37 VCP NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) SNV Uncertain significance 835129 GRCh37: 9:35057190-35057190
GRCh38: 9:35057193-35057193
38 VCP NM_007126.5(VCP):c.648A>G (p.Ile216Met) SNV Uncertain significance 836876 GRCh37: 9:35064211-35064211
GRCh38: 9:35064214-35064214
39 VCP NM_007126.5(VCP):c.2228C>T (p.Ala743Val) SNV Uncertain significance 837640 GRCh37: 9:35057460-35057460
GRCh38: 9:35057463-35057463
40 VCP NM_007126.5(VCP):c.446-4_446-3delinsAT Indel Uncertain significance 842949 GRCh37: 9:35065381-35065382
GRCh38: 9:35065384-35065385
41 VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro) SNV Uncertain significance 595911 rs758169026 GRCh37: 9:35067906-35067906
GRCh38: 9:35067909-35067909
42 VCP NM_007126.5(VCP):c.995T>C (p.Met332Thr) SNV Uncertain significance 846874 GRCh37: 9:35062086-35062086
GRCh38: 9:35062089-35062089
43 VCP NM_007126.5(VCP):c.1996G>A (p.Val666Ile) SNV Uncertain significance 847962 GRCh37: 9:35059498-35059498
GRCh38: 9:35059501-35059501
44 VCP NM_007126.5(VCP):c.954C>T (p.Gly318=) SNV Uncertain significance 287400 rs377316335 GRCh37: 9:35062127-35062127
GRCh38: 9:35062130-35062130
45 VCP NM_007126.5(VCP):c.478G>C (p.Ala160Pro) SNV Uncertain significance 532761 rs1554668805 GRCh37: 9:35065346-35065346
GRCh38: 9:35065349-35065349
46 VCP NM_007126.5(VCP):c.1194+3G>A SNV Uncertain significance 565903 rs183223259 GRCh37: 9:35061571-35061571
GRCh38: 9:35061574-35061574
47 VCP NM_007126.5(VCP):c.811+2_811+3inv Inversion Uncertain significance 464111 GRCh37: 9:35062972-35062973
GRCh38: 9:35062975-35062976
48 VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His) SNV Uncertain significance 532760 rs770514866 GRCh37: 9:35061044-35061044
GRCh38: 9:35061047-35061047
49 VCP NM_007126.5(VCP):c.426G>A (p.Ala142=) SNV Likely benign 464109 rs577812326 GRCh37: 9:35066691-35066691
GRCh38: 9:35066694-35066694
50 VCP NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) SNV Likely benign 464105 rs148329626 GRCh37: 9:35061169-35061169
GRCh38: 9:35061172-35061172

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 11.16 VCP UFD1 UBXN6 NPLOC4
2
Show member pathways
11.13 VCP UFD1 NPLOC4

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 cytosol GO:0005829 10.03 XPO1 VCP UNC45B UFD1 UBXN6 NPLOC4
2 cytoplasm GO:0005737 10.03 XPO1 VCP UNC45B UFD1 UBXN6 TARDBP
3 UFD1-NPL4 complex GO:0036501 8.96 UFD1 NPLOC4
4 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:

# Name GO ID Score Top Affiliating Genes
1 mRNA transport GO:0051028 9.65 XPO1 HNRNPA2B1 HNRNPA1
2 viral process GO:0016032 9.63 XPO1 HSPD1 HNRNPA2B1 HNRNPA1 GYPA CD4
3 macroautophagy GO:0016236 9.61 VCP UBXN6 CHMP2B
4 ubiquitin-dependent ERAD pathway GO:0030433 9.54 VCP UFD1 NPLOC4
5 ERAD pathway GO:0036503 9.46 VCP UBXN6
6 ER-associated misfolded protein catabolic process GO:0071712 9.4 VCP UFD1
7 negative regulation of RIG-I signaling pathway GO:0039536 9.32 UFD1 NPLOC4
8 endosome to lysosome transport via multivesicular body sorting pathway GO:0032510 9.26 VCP UBXN6
9 error-free translesion synthesis GO:0070987 9.13 VCP UFD1 NPLOC4
10 retrograde protein transport, ER to cytosol GO:0030970 8.8 VCP UFD1 NPLOC4

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 RNA binding GO:0003723 9.87 XPO1 VCP TARDBP HSPD1 HNRNPA2B1 HNRNPA1
2 protein domain specific binding GO:0019904 9.56 XPO1 VCP HNRNPA1 CHMP2B
3 pre-mRNA intronic binding GO:0097157 9.16 TARDBP HNRNPA2B1
4 G-rich strand telomeric DNA binding GO:0098505 8.96 HNRNPA2B1 HNRNPA1
5 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 8.62 VCP UFD1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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