MCID: INC018
MIFTS: 50

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 71
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: 52430DefinitionInclusion 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 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 frontotemporal dementia 31.6 VCP TARDBP HNRNPA2B1 HNRNPA1 CHMP2B
6 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 motor neuron disease 30.7 VCP TARDBP HNRNPA1 H2AC18 CHMP2B
14 aphasia 30.6 VCP TARDBP CHMP2B
15 lateral sclerosis 30.5 VCP TARDBP HNRNPA1 CHMP2B
16 supranuclear palsy, progressive, 1 30.5 VCP TARDBP CHMP2B
17 amyotrophic lateral sclerosis 1 30.4 VCP TARDBP HNRNPA2B1 HNRNPA1 H2AC18 CHMP2B
18 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 11.5
19 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 11.5
20 myopathy, distal, with rimmed vacuoles 11.3
21 myopathy 10.6
22 paget's disease of bone 10.6
23 epithelial-stromal tgfbi dystrophy 10.5 HNRNPA2B1 HNRNPA1 H2AC18
24 associative agnosia 10.5 VCP TARDBP CHMP2B
25 nominal aphasia 10.5 VCP TARDBP CHMP2B
26 lattice corneal dystrophy 10.5 HNRNPA2B1 HNRNPA1 H2AC18
27 writing disorder 10.5 VCP TARDBP CHMP2B
28 dermatopathia pigmentosa reticularis 10.5 TARDBP HNRNPA1 H2AC18
29 carrion's disease 10.5 HSPD1 GYPA
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.5 VCP TARDBP CHMP2B
31 autoimmune atherosclerosis 10.5 HSPD1 CD4
32 progressive muscular atrophy 10.5 VCP TARDBP CHMP2B
33 perry syndrome 10.5 VCP TARDBP CHMP2B
34 spinocerebellar ataxia 2 10.5 TARDBP HNRNPA2B1 HNRNPA1
35 bacillary angiomatosis 10.5 HSPD1 CD4
36 progressive non-fluent aphasia 10.5 VCP CHMP2B
37 scoliosis 10.5
38 dilated cardiomyopathy 10.5
39 opportunistic bacterial infectious disease 10.5 HSPD1 CD4
40 nocardiosis 10.5 HSPD1 CD4
41 amyotrophic lateral sclerosis type 14 10.5 VCP CHMP2B
42 amyotrophic lateral sclerosis type 6 10.5 VCP TARDBP H2AC18 CHMP2B
43 coccidiosis 10.5 H2AC18 DHFR CD4
44 commensal bacterial infectious disease 10.5 HSPD1 H2AC18 CD4
45 testicular disease 10.5 HSPD1 H2AC18 CD4
46 prosopagnosia 10.5 TARDBP CHMP2B
47 endemic typhus 10.5 HSPD1 H2AC18
48 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.5
49 mammary paget's disease 10.5
50 dementia, lewy body 10.5 VCP TARDBP H2AC18 CHMP2B

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 sensory axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003390
34 emg: chronic denervation signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003444
35 dyscalculia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002442
36 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
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

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 all 47)
# Title Authors PMID Year
1
Imbalances in p97 co-factor interactions in human proteinopathy. 25 61
20414249 2010
2
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
3
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 25
28692196 2018
4
VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease. 25
28724584 2017
5
Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants. 25
28322724 2017
6
Timing, rates and spectra of human germline mutation. 25
26656846 2016
7
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. 25
25716352 2015
8
Motor neuron involvement in multisystem proteinopathy: implications for ALS. 25
23635965 2013
9
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 25
23455423 2013
10
Phenotypic variability in three families with valosin-containing protein mutation. 25
22900631 2013
11
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 25
22270372 2012
12
Valosin-containing protein mutation and Parkinson's disease. 25
21816654 2012
13
Mutational analysis of the VCP gene in Parkinson's disease. 25
21920633 2012
14
Exome sequencing reveals VCP mutations as a cause of familial ALS. 25
21145000 2010
15
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. 25
20335036 2010
16
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. 25
20410287 2010
17
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
18
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 25
19704082 2009
19
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. 25
19372299 2009
20
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. 25
18796596 2008
21
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 25
18260132 2008
22
Pathological consequences of VCP mutations on human striated muscle. 25
16984901 2007
23
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. 25
17279000 2007
24
Valosin-containing protein gene mutations: clinical and neuropathologic features. 25
16790606 2006
25
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. 25
16783167 2006
26
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 25
16247064 2005
27
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. 25
12351995 2002
28
Protein dislocation from the endoplasmic reticulum--pulling out the suspect. 25
12121416 2002
29
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 25
11891683 2002
30
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation. 25
11756557 2002
31
Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly. 25
11781570 2001
32
Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone. 25
11733065 2001
33
Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. 25
11483959 2001
34
Structure of the AAA ATPase p97. 25
11163219 2000
35
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 25
11252708 2000
36
A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways. 25
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. 25
9506515 1998
38
p47 is a cofactor for p97-mediated membrane fusion. 25
9214505 1997
39
A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. 25
9109881 1997
40
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol. 61
33203472 2020
41
Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum. 61
30955949 2019
42
The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders. 61
29310658 2018
43
Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype. 61
23715207 2015
44
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 61
25492614 2014
45
Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. 61
22105171 2011
46
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. 61
21320982 2011
47
Brain imaging and neuropsychology in late-onset dementia due to a novel mutation (R93C) of valosin-containing protein. 61
17907600 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 54)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His) SNV Pathogenic 8474 rs121909335 9:35065348-35065348 9:35065351-35065351
2 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364
3 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His) SNV Pathogenic 8468 rs121909329 9:35065360-35065360 9:35065363-35065363
4 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 9:35065252-35065252 9:35065255-35065255
5 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely pathogenic 280124 rs121909332 9:35067907-35067907 9:35067910-35067910
6 VCP NM_007126.5(VCP):c.1194+3G>A SNV Uncertain significance 565903 rs183223259 9:35061571-35061571 9:35061574-35061574
7 VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile) SNV Uncertain significance 640109 rs200911363 9:35065312-35065312 9:35065315-35065315
8 VCP NM_007126.5(VCP):c.340A>G (p.Ile114Val) SNV Uncertain significance 597496 rs549915384 9:35066777-35066777 9:35066780-35066780
9 VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His) SNV Uncertain significance 532760 rs770514866 9:35061044-35061044 9:35061047-35061047
10 VCP NM_007126.5(VCP):c.478G>C (p.Ala160Pro) SNV Uncertain significance 532761 rs1554668805 9:35065346-35065346 9:35065349-35065349
11 VCP NM_007126.5(VCP):c.811+2_811+3inv Inversion Uncertain significance 464111 9:35062972-35062973 9:35062975-35062976
12 VCP NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) SNV Uncertain significance 835129 9:35057190-35057190 9:35057193-35057193
13 VCP NM_007126.5(VCP):c.648A>G (p.Ile216Met) SNV Uncertain significance 836876 9:35064211-35064211 9:35064214-35064214
14 VCP NM_007126.5(VCP):c.2228C>T (p.Ala743Val) SNV Uncertain significance 837640 9:35057460-35057460 9:35057463-35057463
15 VCP NM_007126.5(VCP):c.446-4_446-3delinsAT Indel Uncertain significance 842949 9:35065381-35065382 9:35065384-35065385
16 VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro) SNV Uncertain significance 595911 rs758169026 9:35067906-35067906 9:35067909-35067909
17 VCP NM_007126.5(VCP):c.995T>C (p.Met332Thr) SNV Uncertain significance 846874 9:35062086-35062086 9:35062089-35062089
18 VCP NM_007126.5(VCP):c.1996G>A (p.Val666Ile) SNV Uncertain significance 847962 9:35059498-35059498 9:35059501-35059501
19 VCP NM_007126.5(VCP):c.954C>T (p.Gly318=) SNV Uncertain significance 287400 rs377316335 9:35062127-35062127 9:35062130-35062130
20 VCP NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) SNV Uncertain significance 940463 9:35057446-35057446 9:35057449-35057449
21 VCP NM_007126.5(VCP):c.377T>G (p.Ile126Ser) SNV Uncertain significance 942237 9:35066740-35066740 9:35066743-35066743
22 VCP NM_007126.5(VCP):c.523A>G (p.Ile175Val) SNV Uncertain significance 942537 9:35065301-35065301 9:35065304-35065304
23 VCP NM_007126.5(VCP):c.453T>G (p.Ile151Met) SNV Uncertain significance 942825 9:35065371-35065371 9:35065374-35065374
24 VCP NM_007126.5(VCP):c.767G>A (p.Arg256Gln) SNV Uncertain significance 946240 9:35063019-35063019 9:35063022-35063022
25 VCP NM_007126.5(VCP):c.697A>G (p.Ile233Val) SNV Uncertain significance 913795 9:35064162-35064162 9:35064165-35064165
26 VCP NM_007126.5(VCP):c.1242G>A (p.Leu414=) SNV Uncertain significance 594371 rs375262833 9:35061129-35061129 9:35061132-35061132
27 VCP NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) SNV Uncertain significance 952496 9:35057494-35057494 9:35057497-35057497
28 VCP NM_007126.5(VCP):c.313T>C (p.Cys105Arg) SNV Uncertain significance 960799 9:35066804-35066804 9:35066807-35066807
29 VCP NM_007126.5(VCP):c.1324A>G (p.Met442Val) SNV Uncertain significance 961078 9:35061047-35061047 9:35061050-35061050
30 VCP NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) SNV Uncertain significance 963526 9:35061662-35061662 9:35061665-35061665
31 VCP NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) SNV Uncertain significance 966733 9:35059089-35059089 9:35059092-35059092
32 VCP NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) SNV Uncertain significance 972527 9:35059630-35059630 9:35059633-35059633
33 VCP NM_007126.5(VCP):c.426G>A (p.Ala142=) SNV Likely benign 464109 rs577812326 9:35066691-35066691 9:35066694-35066694
34 VCP NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) SNV Likely benign 464105 rs148329626 9:35061169-35061169 9:35061172-35061172
35 VCP NM_007126.5(VCP):c.2161-6C>T SNV Likely benign 532766 rs199513619 9:35057533-35057533 9:35057536-35057536
36 VCP NM_007126.5(VCP):c.2316-4A>G SNV Likely benign 532767 rs755625059 9:35057223-35057223 9:35057226-35057226
37 VCP NM_007126.5(VCP):c.2052A>G (p.Gly684=) SNV Likely benign 709727 rs753011642 9:35059169-35059169 9:35059172-35059172
38 VCP NM_007126.5(VCP):c.1887T>C (p.Ile629=) SNV Likely benign 733166 rs777402266 9:35059607-35059607 9:35059610-35059610
39 VCP NM_007126.5(VCP):c.624C>T (p.Gly208=) SNV Likely benign 753125 rs781273474 9:35064235-35064235 9:35064238-35064238
40 VCP NM_007126.5(VCP):c.924C>T (p.Ala308=) SNV Likely benign 767613 rs199504528 9:35062235-35062235 9:35062238-35062238
41 VCP NM_007126.5(VCP):c.1696-4A>G SNV Likely benign 790949 rs963637081 9:35059802-35059802 9:35059805-35059805
42 VCP NM_007126.5(VCP):c.2406T>C (p.Asp802=) SNV Likely benign 194756 rs145508640 9:35057129-35057129 9:35057132-35057132
43 VCP NM_007126.5(VCP):c.18-5T>C SNV Benign 366721 rs114256093 9:35068364-35068364 9:35068367-35068367
44 VCP NM_007126.5(VCP):c.2214A>G (p.Glu738=) SNV Benign 194645 rs374391034 9:35057474-35057474 9:35057477-35057477
45 VCP NM_007126.5(VCP):c.79A>G (p.Ile27Val) SNV Benign 284302 rs140913250 9:35068298-35068298 9:35068301-35068301
46 VCP NM_007126.5(VCP):c.1082-9G>T SNV Benign 464103 rs12349922 9:35061695-35061695 9:35061698-35061698
47 VCP NM_007126.5(VCP):c.2160+8T>G SNV Benign 742604 rs564249854 9:35059053-35059053 9:35059056-35059056
48 VCP NM_007126.5(VCP):c.832T>C (p.Leu278=) SNV Benign 706186 rs200670526 9:35062327-35062327 9:35062330-35062330
49 VCP NM_007126.5(VCP):c.1875G>T (p.Arg625=) SNV Benign 501479 rs201410035 9:35059619-35059619 9:35059622-35059622
50 VCP NM_007126.5(VCP):c.1082-18_1082-8dup Duplication Benign 260119 rs11272867 9:35061693-35061694 9:35061696-35061697

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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