MCID: INC018
MIFTS: 44

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 59 37 15
Ibmpfd 12 24 59
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 72
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
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 59
Pagetoid Amyotrophic Lateral Sclerosis 59
Pagetoid Neuroskeletal Syndrome 59

Characteristics:

Orphanet epidemiological data:

59

GeneReviews:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0050881
KEGG 37 H02031
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C1833662
Orphanet 59 ORPHA52430
UMLS 72 C1833662

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

KEGG : 37
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.

MalaCards based summary : Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia, also known as ibmpfd, is related to nonaka myopathy and mammary paget's disease, 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 Protein processing in endoplasmic reticulum. Affiliated tissues include bone, brain and skeletal muscle, 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.

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 all 30)
# Related Disease Score Top Affiliating Genes
1 nonaka myopathy 30.5 SQSTM1 GNE
2 mammary paget's disease 30.3 VCP SQSTM1
3 frontotemporal dementia 29.9 VCP TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
4 motor neuron disease 29.8 VCP TARDBP SQSTM1
5 lateral sclerosis 29.6 VCP TARDBP SQSTM1 HNRNPA1
6 dementia 29.5 VCP TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
7 amyotrophic lateral sclerosis 1 29.3 VCP TARDBP SQSTM1 HNRNPA2B1 HNRNPA1
8 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 11.9
9 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.4
10 myopathy 10.5
11 paget's disease of bone 10.5
12 agraphia 10.4
13 scoliosis 10.4
14 dyscalculia 10.4
15 alexia 10.4
16 dysgraphia 10.4
17 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.4
18 semantic dementia 10.4
19 postpoliomyelitis syndrome 10.4 VCP TARDBP
20 bone disease 10.4
21 muscular dystrophy 10.4
22 limb-girdle muscular dystrophy 10.4
23 amyotrophic lateral sclerosis type 14 10.3 VCP TARDBP
24 amyotrophic lateral sclerosis 21 10.3 VCP TARDBP
25 miyoshi muscular dystrophy 10.1
26 behavioral variant of frontotemporal dementia 10.1 VCP SQSTM1
27 spinocerebellar ataxia 31 9.9 TARDBP HNRNPA2B1
28 muscular disease 9.9 VCP TARDBP GNE
29 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 VCP TARDBP SQSTM1
30 inclusion body myositis 9.6 VCP TARDBP SQSTM1 GNE

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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
2 waddling gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002515
3 emg: myopathic abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0003458
4 rimmed vacuoles 59 32 hallmark (90%) Very frequent (99-80%) HP:0003805
5 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
6 increased variability in muscle fiber diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0003557
7 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
8 ubiquitin-positive cerebral inclusion bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0012083
9 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
10 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 osteolysis 59 32 frequent (33%) Frequent (79-30%) HP:0002797
13 frontotemporal dementia 59 32 frequent (33%) Frequent (79-30%) HP:0002145
14 elevated alkaline phosphatase 59 32 frequent (33%) Frequent (79-30%) HP:0003155
15 hip pain 59 32 frequent (33%) Frequent (79-30%) HP:0030838
16 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
17 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
18 motor axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007002
19 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
20 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
21 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
22 urinary bladder sphincter dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002839
23 sensory axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003390
24 aphasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002381
25 amyotrophic lateral sclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007354
26 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
27 abnormality of calvarial morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002648
28 generalized amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003700
29 calvarial hyperostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004490
30 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
31 upper motor neuron dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002493
32 dyscalculia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002442
33 abnormality of long bone morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0011314
34 mutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002300
35 cranial nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0001293
36 fatty replacement of skeletal muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0012548
37 emg: chronic denervation signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0003444
38 weakness of muscles of respiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0004347
39 pathologic fracture 59 32 very rare (1%) Very rare (<4-1%) HP:0002756
40 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
41 abnormality of the vertebral column 59 Frequent (79-30%)
42 increased susceptibility to fractures 59 Occasional (29-5%)
43 emg: neuropathic changes 59 Occasional (29-5%)
44 abnormal motor neuron morphology 59 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:

41
Bone, Brain, Skeletal Muscle, Heart, Spinal Cord

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 153)
# Title Authors PMID Year
1
Exome sequencing reveals VCP mutations as a cause of familial ALS. 38 4
21145000 2010
2
Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. 38 4
20335036 2010
3
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. 38 4
20410287 2010
4
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 38 4
19704082 2009
5
Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. 38 4
19372299 2009
6
A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. 38 4
19208399 2009
7
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 38 4
18260132 2008
8
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. 38 4
17935506 2007
9
Pathological consequences of VCP mutations on human striated muscle. 38 4
16984901 2007
10
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). 38 4
17224685 2007
11
Valosin-containing protein gene mutations: clinical and neuropathologic features. 38 4
16790606 2006
12
Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. 38 4
16783167 2006
13
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy. 38 4
16419137 2006
14
Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. 38 4
16199218 2006
15
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 38 4
16247064 2005
16
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. 4
19506019 2009
17
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. 4
17591968 2007
18
TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. 4
17279000 2007
19
Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome. 4
16244874 2005
20
Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study. 4
15746152 2005
21
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 4
15732117 2005
22
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 4
12374763 2002
23
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. 4
12351995 2002
24
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 4
12080485 2002
25
Protein dislocation from the endoplasmic reticulum--pulling out the suspect. 4
12121416 2002
26
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 4
11992264 2002
27
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 4
11891683 2002
28
AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation. 4
11756557 2002
29
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. 4
11749051 2001
30
Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly. 4
11781570 2001
31
Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone. 4
11733065 2001
32
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. 4
11528398 2001
33
Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation. 4
11483959 2001
34
Structure of the AAA ATPase p97. 4
11163219 2000
35
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 4
11252708 2000
36
A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways. 4
10811609 2000
37
Inheritance of frontotemporal dementia. 4
10404983 1999
38
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. 4
10469840 1999
39
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 4
9641683 1998
40
Syntaxin 5 is a common component of the NSF- and p97-mediated reassembly pathways of Golgi cisternae from mitotic Golgi fragments in vitro. 4
9506515 1998
41
Social adjustment in adult males affected with progressive muscular dystrophy. 4
9514580 1998
42
Genetic linkage of Paget disease of the bone to chromosome 18q. 4
9345096 1997
43
p47 is a cofactor for p97-mediated membrane fusion. 4
9214505 1997
44
A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. 4
9109881 1997
45
Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. 4
8619529 1996
46
Profiles of neuromuscular diseases. Limb-girdle syndromes. 4
7576419 1995
47
VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology. 38
31091164 2019
48
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. 38
30654731 2019
49
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? 38
30100055 2018
50
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene. 38
30097247 2018

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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 9:35065360-35065360 9:35065363-35065363
2 VCP NM_007126.5(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 9:35065361-35065361 9:35065364-35065364
3 VCP NM_007126.5(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 9:35064164-35064164 9:35064167-35064167
4 VCP NM_007126.5(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 9:35067907-35067907 9:35067910-35067910
5 VCP NM_007126.5(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 9:35065360-35065360 9:35065363-35065363
6 VCP NM_007126.5(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 9:35065348-35065348 9:35065351-35065351
7 VCP NM_007126.5(VCP): c.475C> T (p.Arg159Cys) single nucleotide variant Pathogenic rs387906789 9:35065349-35065349 9:35065352-35065352
8 VCP NM_007126.5(VCP): c.277C> T (p.Arg93Cys) single nucleotide variant Pathogenic 9:35067913-35067913 9:35067916-35067916
9 VCP NM_007126.5(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 9:35065252-35065252 9:35065255-35065255
10 VCP NM_007126.5(VCP): c.271A> T (p.Asn91Tyr) single nucleotide variant Likely pathogenic rs863225291 9:35067919-35067919 9:35067922-35067922
11 VCP NM_007126.5(VCP): c.283C> T (p.Arg95Cys) single nucleotide variant Likely pathogenic rs121909332 9:35067907-35067907 9:35067910-35067910
12 VCP NM_007126.5(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 9:35060421-35060421 9:35060424-35060424
13 VCP NM_007126.5(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Conflicting interpretations of pathogenicity rs145508640 9:35057129-35057129 9:35057132-35057132
14 VCP NM_007126.5(VCP): c.463C> G (p.Arg155Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121909330 9:35065361-35065361 9:35065364-35065364
15 VCP NM_007126.5(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 9:35066691-35066691 9:35066694-35066694
16 VCP NM_007126.5(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 9:35067912-35067912 9:35067915-35067915
17 VCP NM_007126.5(VCP): c.303-3C> T single nucleotide variant Uncertain significance rs1183711292 9:35066817-35066817 9:35066820-35066820
18 VCP NM_007126.5(VCP): c.811+2_811+3inv inversion Uncertain significance rs1554668584 9:35062972-35062973 9:35062975-35062976
19 VCP NM_007126.5(VCP): c.478G> C (p.Ala160Pro) single nucleotide variant Uncertain significance rs1554668805 9:35065346-35065346 9:35065349-35065349
20 VCP NM_007126.5(VCP): c.1360-4C> G single nucleotide variant Uncertain significance rs769279961 9:35060924-35060924 9:35060927-35060927
21 VCP NM_007126.5(VCP): c.553G> A (p.Glu185Lys) single nucleotide variant Uncertain significance rs864309501 9:35065271-35065271 9:35065274-35065274
22 VCP NM_007126.5(VCP): c.1327A> C (p.Asn443His) single nucleotide variant Uncertain significance rs770514866 9:35061044-35061044 9:35061047-35061047
23 VCP NM_007126.5(VCP): c.479C> T (p.Ala160Val) single nucleotide variant Uncertain significance rs1554668804 9:35065345-35065345 9:35065348-35065348
24 VCP NM_007126.5(VCP): c.2397C> G (p.Asp799Glu) single nucleotide variant Uncertain significance 9:35057138-35057138 9:35057141-35057141
25 VCP NM_007126.5(VCP): c.1984C> T (p.Arg662Cys) single nucleotide variant Uncertain significance 9:35059510-35059510 9:35059513-35059513
26 VCP NM_007126.5(VCP): c.1194+3G> A single nucleotide variant Uncertain significance 9:35061571-35061571 9:35061574-35061574
27 VCP NM_007126.5(VCP): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance 9:35066743-35066743 9:35066746-35066746
28 VCP NM_007126.5(VCP): c.320A> T (p.Asp107Val) single nucleotide variant Uncertain significance 9:35066797-35066797 9:35066800-35066800
29 VCP NM_007126.5(VCP): c.340A> G (p.Ile114Val) single nucleotide variant Uncertain significance 9:35066777-35066777 9:35066780-35066780
30 VCP NM_007126.5(VCP): c.2266G> A (p.Glu756Lys) single nucleotide variant Uncertain significance 9:35057422-35057422 9:35057425-35057425
31 VCP NM_007126.5(VCP): c.2014T> G (p.Leu672Val) single nucleotide variant Uncertain significance 9:35059207-35059207 9:35059210-35059210
32 VCP NM_007126.5(VCP): c.1180G> A (p.Val394Met) single nucleotide variant Uncertain significance 9:35061588-35061588 9:35061591-35061591
33 VCP NM_007126.5(VCP): c.512G> T (p.Ser171Ile) single nucleotide variant Uncertain significance 9:35065312-35065312 9:35065315-35065315
34 VCP NM_007126.5(VCP): c.84T> A (p.Val28=) single nucleotide variant Uncertain significance 9:35068293-35068293 9:35068296-35068296
35 VCP NM_007126.5(VCP): c.1017A> G (p.Ala339=) single nucleotide variant Likely benign rs565534943 9:35062064-35062064 9:35062067-35062067
36 VCP NM_007126.5(VCP): c.213C> T (p.Val71=) single nucleotide variant Likely benign rs1195805928 9:35067977-35067977 9:35067980-35067980
37 VCP NM_007126.5(VCP): c.552C> T (p.Cys184=) single nucleotide variant Likely benign rs769455914 9:35065272-35065272 9:35065275-35065275
38 VCP NM_007126.5(VCP): c.2161-6C> T single nucleotide variant Likely benign rs199513619 9:35057533-35057533 9:35057536-35057536
39 VCP NM_007126.5(VCP): c.1950G> A (p.Glu650=) single nucleotide variant Likely benign rs752382520 9:35059544-35059544 9:35059547-35059547
40 VCP NM_007126.5(VCP): c.2316-4A> G single nucleotide variant Likely benign rs755625059 9:35057223-35057223 9:35057226-35057226
41 VCP NM_007126.5(VCP): c.1329C> T (p.Asn443=) single nucleotide variant Likely benign rs748816624 9:35061042-35061042 9:35061045-35061045
42 VCP NM_007126.5(VCP): c.1202A> G (p.Asn401Ser) single nucleotide variant Likely benign rs148329626 9:35061169-35061169 9:35061172-35061172
43 VCP NM_007126.5(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 9:35057123-35057123 9:35057126-35057126
44 VCP NM_007126.5(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 9:35065238-35065238 9:35065241-35065241
45 VCP NM_007126.5(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 9:35059805-35059805 9:35059808-35059808
46 VCP NM_007126.5(VCP): c.1875G> T (p.Arg625=) single nucleotide variant Benign/Likely benign rs201410035 9:35059619-35059619 9:35059622-35059622
47 VCP NM_007126.5(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 9:35059790-35059790 9:35059793-35059793
48 VCP NM_007126.5(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 9:35057474-35057474 9:35057477-35057477
49 VCP NM_007126.5(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 9:35068364-35068364 9:35068367-35068367
50 VCP NM_007126.5(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 9:35061676-35061676 9:35061679-35061679

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 11.02 VCP UFD1 UBXN6

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 nucleoplasm GO:0005654 9.97 WASHC4 VCP UFD1 TARDBP SQSTM1 NDUFB6
2 endosome GO:0005768 9.71 WASHC4 UBXN6 SQSTM1 RAB10
3 endoplasmic reticulum GO:0005783 9.63 VCP UFD1 SQSTM1 RTN2 RHEB RAB10
4 ribonucleoprotein complex GO:1990904 9.5 TARDBP HNRNPA2B1 HNRNPA1
5 extracellular exosome GO:0070062 9.5 VCP UBXN6 SQSTM1 RHEB RAB10 HNRNPA2B1
6 spliceosomal complex GO:0005681 9.43 RHEB HNRNPA2B1 HNRNPA1
7 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 8.62 VCP UFD1

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 RNA metabolic process GO:0016070 9.46 HNRNPA2B1 HNRNPA1
2 endosome organization GO:0007032 9.43 WASHC4 SQSTM1
3 error-free translesion synthesis GO:0070987 9.4 VCP UFD1
4 retrograde protein transport, ER to cytosol GO:0030970 9.37 VCP UFD1
5 macroautophagy GO:0016236 9.33 VCP UBXN6 SQSTM1
6 ERAD pathway GO:0036503 9.32 VCP UBXN6
7 ER-associated misfolded protein catabolic process GO:0071712 9.26 VCP UFD1
8 endosomal transport GO:0016197 9.13 WASHC4 SQSTM1 RAB10
9 endosome to lysosome transport via multivesicular body sorting pathway GO:0032510 8.62 VCP UBXN6

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 single-stranded RNA binding GO:0003727 9.26 TARDBP HNRNPA1
2 miRNA binding GO:0035198 9.16 HNRNPA2B1 HNRNPA1
3 G-rich strand telomeric DNA binding GO:0098505 8.96 HNRNPA2B1 HNRNPA1
4 K48-linked polyubiquitin modification-dependent protein binding GO:0036435 8.62 VCP UFD1

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

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