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IBMPFD1
MCID: INC029
MIFTS: 47

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 (IBMPFD1)

Categories: Bone diseases, Genetic diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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MalaCards integrated aliases for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 56 73 29 6
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 73 29 13 6 71
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 56 29
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 56 73
Pagetoid Amyotrophic Lateral Sclerosis 56 73
Pagetoid Neuroskeletal Syndrome 56 73
Ibmpfd1 56 73
Myopathy, Inclusion Body, with Early-Onset Paget Disease and Frontotemporal Dementia 39
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 56
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 73
Multisystem Proteinopathy 1; Msp1 56
Multisystem Proteinopathy 1 56
Msp1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mean age at onset of muscle disease is 42 years (range 24-61)
mean age at onset of bone disease is 40 years (range 23-65)
mean age at onset of dementia is 57 years
many patients become wheelchair-bound
incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease


HPO:

31
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Bone diseases Mental diseases
See all MalaCards categories (disease lists)


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Summaries for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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OMIM : 56 IBMPFD is an autosomal dominant disorder characterized by incomplete penetrance of 3 main features: disabling muscle weakness (in 90%), osteolytic bone lesions consistent with Paget disease (in 51%), and frontotemporal dementia (in 32%). Muscle weakness is an isolated symptom in about 30% of patients and the presenting symptom in greater than half of patients, suggesting that IBMPFD may commonly be seen in a neuromuscular clinic without its other syndromic features (review by Weihl et al., 2009). (167320)

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1, also known as inclusion body myopathy with early-onset paget disease and frontotemporal dementia, is related to inclusion body myopathy with paget disease of bone and frontotemporal dementia and multisystem proteinopathy, and has symptoms including back pain and hip pain. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 is VCP (Valosin Containing Protein), and among its related pathways/superpathways is Telomere Extension by Telomerase. The drugs Amodiaquine and Artesunate have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are facial palsy and myopathy

UniProtKB/Swiss-Prot : 73 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.

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Related Diseases for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Diseases in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3

Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 31.4 VCP HNRNPA2B1 HNRNPA1
2 multisystem proteinopathy 31.4 VCP HNRNPA2B1 HNRNPA1
3 myopathy 29.5 VCP HNRNPA2B1 HNRNPA1
4 frontotemporal dementia 29.4 VCP HNRNPA2B1 HNRNPA1
5 dementia 29.4 VCP HNRNPA2B1 HNRNPA1
6 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.8
7 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 11.3
8 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.7
9 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.7
10 plasmodium falciparum malaria 10.6
11 malaria 10.6
12 miyoshi muscular dystrophy 10.4
13 tetanus 10.2
14 plasmodium vivax malaria 10.2
15 esophageal cancer 10.1
16 triiodothyronine receptor auxiliary protein 10.1
17 lung cancer 10.1
18 gallbladder disease 1 10.1
19 platelet glycoprotein iv deficiency 10.1
20 rabies 10.1
21 gallbladder cancer 10.1
22 vaccinia 10.1
23 mycobacterium kansasii 10.1
24 splenomegaly 10.1
25 rapidly involuting congenital hemangioma 10.1
26 oculopharyngeal muscular dystrophy 9.5 HNRNPA2B1 HNRNPA1
27 lateral sclerosis 9.4 VCP HNRNPA1
28 spinocerebellar ataxia 2 9.2 HNRNPA2B1 HNRNPA1
29 paget's disease of bone 9.1 VCP HNRNPA2B1 HNRNPA1
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.1 VCP HNRNPA2B1 HNRNPA1
31 amyotrophic lateral sclerosis 1 9.1 VCP HNRNPA2B1 HNRNPA1
32 muscular dystrophy 8.9 VCP HNRNPA2B1 HNRNPA1

Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:



Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1
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Symptoms & Phenotypes for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Human phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 occasional (7.5%) HP:0010628
2 myopathy 31 HP:0003198
3 gait disturbance 31 HP:0001288
4 dysphasia 31 HP:0002357
5 elevated serum creatine kinase 31 HP:0003236
6 back pain 31 HP:0003418
7 scapular winging 31 HP:0003691
8 rimmed vacuoles 31 HP:0003805
9 pelvic girdle muscle weakness 31 HP:0003749
10 abnormality of pelvic girdle bone morphology 31 HP:0002644
11 dystonia 31 HP:0001332
12 distal amyotrophy 31 HP:0003693
13 dementia 31 HP:0000726
14 hip pain 31 HP:0030838
15 proximal muscle weakness 31 HP:0003701
16 frontal cortical atrophy 31 HP:0006913
17 shoulder girdle muscle atrophy 31 HP:0003724
18 lumbar hyperlordosis 31 HP:0002938
19 limb muscle weakness 31 HP:0003690
20 amyotrophic lateral sclerosis 31 HP:0007354
21 difficulty climbing stairs 31 HP:0003551
22 shoulder girdle muscle weakness 31 HP:0003547
23 frontotemporal dementia 31 HP:0002145
24 temporal cortical atrophy 31 HP:0007112
25 elevated alkaline phosphatase of bone origin 31 HP:0010639
26 pelvic girdle amyotrophy 31 HP:0008946
27 pelvic girdle muscle atrophy 31 HP:0008988

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
back pain
lumbar lordosis

Neurologic Central Nervous System:
dystonia
gait abnormalities
frontotemporal dementia (in 30% of patients)
expressive dysphasia
dystrophic neurites
more
Laboratory Abnormalities:
increased serum creatine kinase
increased serum bone-specific alkaline phosphatase

Head And Neck Face:
facial weakness (less common)

Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness
distal muscle atrophy
muscle weakness (in 90% of patients)
shoulder weakness and atrophy
more
Skeletal Pelvis:
hip pain

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae

Skeletal:
paget disease (in 50% of patients)

Clinical features from OMIM:

167320

UMLS symptoms related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:


back pain, hip pain

GenomeRNAi Phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased centriole number GR00290-A 9.16 HNRNPA1 VCP
2 Increased homologous recombination repair frequency GR00151-A-1 8.65 HNRNPA2B1
3 Increased SMN2 exon 7 inclusion GR00254-A 8.62 HNRNPA1 HNRNPA2B1
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Drugs & Therapeutics for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Drugs for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
2
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
3
Primaquine Approved Phase 4 90-34-6 4908
4
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
5
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
6 Artemisinins Phase 4
7 Artemisinine Phase 4
8 Antiparasitic Agents Phase 4
9 Antiprotozoal Agents Phase 4
10 Anti-Infective Agents Phase 4
11 Antimalarials Phase 4
12 Anthelmintics Phase 4
13 Antiviral Agents Phase 4
14
Lumefantrine Approved Phase 3 82186-77-4 6437380
15
Artemether Approved Phase 3 71963-77-4 68911 9796294 119380
16
Lactitol Approved, Investigational Phase 3 585-88-6, 585-86-4 493591
17
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
18
Sulfadoxine Approved, Investigational Phase 2, Phase 3 2447-57-6 17134
19
Pyrimethamine Approved, Investigational, Vet_approved Phase 2, Phase 3 58-14-0 4993
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
21 Artemether, Lumefantrine Drug Combination Phase 3
22 Folic Acid Antagonists Phase 2, Phase 3
23 Vitamin B Complex Phase 2, Phase 3
24 Folate Phase 2, Phase 3
25 Vitamin B9 Phase 2, Phase 3
26 Vaccines Phase 1, Phase 2
27 Immunologic Factors Phase 1, Phase 2
28
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
29
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
30 Antacids Phase 1
31 Adjuvants, Immunologic Phase 1
32 Anti-Ulcer Agents Phase 1
33 Gastrointestinal Agents Phase 1
34
chloroquine Approved, Investigational, Vet_approved 54-05-7 2719
35 Fanasil, pyrimethamine drug combination
36 Amodiaquine, artesunate drug combination
37 Amebicides
38 Chloroquine diphosphate 50-63-5
39 Antirheumatic Agents

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Efficacy of Artesunate Monotherapy and Dihydroartemisinin - Piperaquine in Patients With Uncomplicated Falciparum Malaria in Central Vietnam Unknown status NCT02604966 Phase 4 Artesunate (AS) group;DHA - PPQ group
2 Efficacy and Safety of Artesunate + Amodiaquine Combined With a Single Low Dose of Primaquine (0.25 mg/kg) for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Zanzibar Completed NCT03773536 Phase 4 Artesunate-amodiaquine given with single low dose primaquine
3 Evaluation of the Efficacy of Artemisinin Combination Therapy in Kenya Unknown status NCT01899820 Phase 3 Artemether lumefantrine;Dihydroartemisinin piperaquine
4 An Open-label Randomized Controlled Trial to Evaluate the Effectiveness and Safety of a 3 Day Versus 5 Day Course of Artemether-lumefantrine for the Treatment of Uncomplicated Falciparum Malaria in Myanmar Completed NCT02020330 Phase 3 Artemether-lumefantrine 3 days;Artemether-lumefantrine 5 days
5 Anti-malarial Drug Resistance in Cameroon: Therapeutic Efficacy and Biological Markers of Resistance Completed NCT00146718 Phase 2, Phase 3 Amodiaquine and Sulphadoxine/Pyrimethamine
6 Phase III Clinical Trials of Artemisinin-based Combination Therapy in Cameroon Completed NCT00297882 Phase 3 Artemether-Lumefantrine , Amodiaquine-Artesunate
7 A Phase I/IIa Sporozoite Challenge Study to Assess the Protective Efficacy of New Malaria Vaccine Candidates AdCh63 AMA1, MVA AMA1, AdCh63 MSP1, MVA MSP1, AdCh63 ME-TRAP & MVA ME-TRAP Completed NCT01142765 Phase 1, Phase 2
8 A Phase I/IIa Study to Assess the Safety and Immunogenicity of New Malaria Vaccine Candidates AdCh63 MSP1 Alone and With MVA MSP1 Completed NCT01003314 Phase 1, Phase 2
9 Phase 1 Study of the Safety and Immunogenicity of MSP1 42-C1/Alhydrogel With and Without CPG 7909, an Asexual Blood Stage Vaccine for Plasmodium Falciparum Malaria Completed NCT00320658 Phase 1
10 Phase 1 Study of the Safety and Immunogenicity of MSP1(42)-FVO/Alhydrogel and MSP1(42)-3D7/Alhydrogel, Asexual Blood-Stage Vaccines for Plasmodium Falciparum Malaria Completed NCT00340431 Phase 1 MSP1(42)-FVO & MSP1(42)-3D7
11 A Phase Ia Clinical Trial to Assess the Safety and Immunogenicity of New Plasmodium Vivax Malaria Vaccine Candidates ChAd63 PvDBP Alone and With MVA PvDBP Completed NCT01816113 Phase 1
12 Double Blind Randomized Controlled Phase I Trial to Evaluate the Safety and Immunogenicity of WRAIR's MSP1 Candidate Malaria Vaccine (FMP1) Adjuvant in GSK Bio's AS02A vs. Rabies Vaccine in Semi-immune Adults in Bandiagara, Mali. Completed NCT00308061 Phase 1
13 Phase 1 Study of the Safety and Immunogenicity of BSAM-2/Alhydrogel +CPG 7909, an Asexual Blood Stage Vaccine for Plasmodium Falciparum Malaria in Adults in the US and in Bancoumana, Mali Completed NCT00889616 Phase 1 BSAM2/Alhydrogel + CPG 7909
14 Efficacy and Safety of Artesunate+Sulphadoxine-Pyrimethamine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Malaria Control Center Asadabad in Kunar Province of Afghanistan Unknown status NCT01707199 Artesunate + Sulphadoxine-pyrimethamine
15 Fetal Immunity to Plasmodium Falciparum Malaria Completed NCT00314899
16 Efficacy of Amodiaquine-Artesunate and Artemether-Lumefantrine for the Treatment of Uncomplicated Childhood Plasmodium Falciparum Malaria in Pweto, Democratic Republic of Congo, 2008 Completed NCT01567423 ASAQ Winthrop® Sanofi Aventis;Coartem®, Novartis
17 Efficacy and Safety of Artemether-lumefantrine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria and Chloroquine for the Treatment of Plasmodium Vivax in the Philippines Completed NCT04222088 Arthemeter-lumefantrine;Chloroquine
18 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
19 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1

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Genetic Tests for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Genetic tests related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 29 VCP
2 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 29
3 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 29 HNRNPA1 HNRNPA2B1 VCP
Sources

Anatomical Context for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

40
Bone, Brain
Sources

Publications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Articles related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

(show all 22)
# Title Authors PMID Year
1
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 6 56
21984748 2012
2
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. 56 6
21320982 2011
3
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 6 56
19704082 2009
4
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. 56 6
18341608 2008
5
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 56 6
16247064 2005
6
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 6 56
15034582 2004
7
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. 56 6
7182974 1982
8
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 56
26208961 2015
9
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. 56
22909335 2013
10
Exome sequencing reveals VCP mutations as a cause of familial ALS. 6
21145000 2010
11
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. 56
20147319 2010
12
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 56
19924424 2010
13
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. 56
19380227 2009
14
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 56
18260132 2008
15
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 6
20301649 2007
16
Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. 56
17329348 2007
17
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 6
16321991 2006
18
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 56
15732117 2005
19
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. 56
11749051 2001
20
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 56
11252708 2000
21
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
22
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 61
25492614 2014
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Variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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ClinVar genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

6 (show top 50) (show all 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP):c.277C>T (p.Arg93Cys)SNV Pathogenic 593071 rs1554669087 9:35067913-35067913 9:35067916-35067916
2 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His)SNV Pathogenic 8468 rs121909329 9:35065360-35065360 9:35065363-35065363
3 VCP NM_007126.5(VCP):c.695C>A (p.Ala232Glu)SNV Pathogenic 8470 rs121909331 9:35064164-35064164 9:35064167-35064167
4 VCP NM_007126.5(VCP):c.283C>G (p.Arg95Gly)SNV Pathogenic 8471 rs121909332 9:35067907-35067907 9:35067910-35067910
5 VCP NM_007126.5(VCP):c.464G>C (p.Arg155Pro)SNV Pathogenic 8472 rs121909329 9:35065360-35065360 9:35065363-35065363
6 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His)SNV Pathogenic 8474 rs121909335 9:35065348-35065348 9:35065351-35065351
7 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln)SNV Pathogenic/Likely pathogenic 8473 rs121909334 9:35065252-35065252 9:35065255-35065255
8 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys)SNV Pathogenic/Likely pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364
9 VCP NM_007126.5(VCP):c.475C>T (p.Arg159Cys)SNV Pathogenic/Likely pathogenic 280123 rs387906789 9:35065349-35065349 9:35065352-35065352
10 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys)SNV Likely pathogenic 280124 rs121909332 9:35067907-35067907 9:35067910-35067910
11 VCP NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)SNV Likely pathogenic 217877 rs863225291 9:35067919-35067919 9:35067922-35067922
12 VCP NM_007126.5(VCP):c.1584C>T (p.Ala528=)SNV Conflicting interpretations of pathogenicity 283215 rs147623367 9:35060421-35060421 9:35060424-35060424
13 VCP NM_007126.5(VCP):c.2406T>C (p.Asp802=)SNV Conflicting interpretations of pathogenicity 194756 rs145508640 9:35057129-35057129 9:35057132-35057132
14 VCP NM_007126.5(VCP):c.463C>G (p.Arg155Gly)SNV Conflicting interpretations of pathogenicity 217028 rs121909330 9:35065361-35065361 9:35065364-35065364
15 VCP NM_007126.5(VCP):c.384T>C (p.Gly128=)SNV Conflicting interpretations of pathogenicity 914193 9:35066733-35066733 9:35066736-35066736
16 VCP NM_007126.5(VCP):c.278G>A (p.Arg93His)SNV Conflicting interpretations of pathogenicity 449554 rs779959657 9:35067912-35067912 9:35067915-35067915
17 VCP NM_007126.5(VCP):c.426G>A (p.Ala142=)SNV Conflicting interpretations of pathogenicity 464109 rs577812326 9:35066691-35066691 9:35066694-35066694
18 VCP NM_007126.5(VCP):c.478G>C (p.Ala160Pro)SNV Conflicting interpretations of pathogenicity 532761 rs1554668805 9:35065346-35065346 9:35065349-35065349
19 VCP NM_007126.5(VCP):c.1360-4C>GSNV Uncertain significance 532759 rs769279961 9:35060924-35060924 9:35060927-35060927
20 VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His)SNV Uncertain significance 532760 rs770514866 9:35061044-35061044 9:35061047-35061047
21 VCP NM_007126.5(VCP):c.479C>T (p.Ala160Val)SNV Uncertain significance 532758 rs1554668804 9:35065345-35065345 9:35065348-35065348
22 VCP NM_007126.5(VCP):c.303-3C>TSNV Uncertain significance 464108 rs1183711292 9:35066817-35066817 9:35066820-35066820
23 VCP NM_007126.5(VCP):c.811+2_811+3invinversion Uncertain significance 464111 rs1554668584 9:35062972-35062973 9:35062975-35062976
24 VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro)SNV Uncertain significance 595911 rs758169026 9:35067906-35067906 9:35067909-35067909
25 VCP NM_007126.5(VCP):c.340A>G (p.Ile114Val)SNV Uncertain significance 597496 rs549915384 9:35066777-35066777 9:35066780-35066780
26 VCP NM_007126.5(VCP):c.2266G>A (p.Glu756Lys)SNV Uncertain significance 653332 9:35057422-35057422 9:35057425-35057425
27 VCP NM_007126.5(VCP):c.2014T>G (p.Leu672Val)SNV Uncertain significance 647081 9:35059207-35059207 9:35059210-35059210
28 VCP NM_007126.5(VCP):c.1180G>A (p.Val394Met)SNV Uncertain significance 656560 9:35061588-35061588 9:35061591-35061591
29 VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile)SNV Uncertain significance 640109 9:35065312-35065312 9:35065315-35065315
30 VCP NM_007126.5(VCP):c.84T>A (p.Val28=)SNV Uncertain significance 638960 9:35068293-35068293 9:35068296-35068296
31 VCP NM_007126.5(VCP):c.2397C>G (p.Asp799Glu)SNV Uncertain significance 568017 rs1329151473 9:35057138-35057138 9:35057141-35057141
32 VCP NM_007126.5(VCP):c.1984C>T (p.Arg662Cys)SNV Uncertain significance 572697 rs765795425 9:35059510-35059510 9:35059513-35059513
33 VCP NM_007126.5(VCP):c.1194+3G>ASNV Uncertain significance 565903 rs183223259 9:35061571-35061571 9:35061574-35061574
34 VCP NM_007126.5(VCP):c.374G>A (p.Gly125Asp)SNV Uncertain significance 569394 rs1563980403 9:35066743-35066743 9:35066746-35066746
35 VCP NM_007126.5(VCP):c.320A>T (p.Asp107Val)SNV Uncertain significance 575232 rs1563980440 9:35066797-35066797 9:35066800-35066800
36 VCP NM_007126.5(VCP):c.335A>G (p.Lys112Arg)SNV Uncertain significance 914194 9:35066782-35066782 9:35066785-35066785
37 VCP NM_007126.5(VCP):c.*1040T>CSNV Uncertain significance 912607 9:35056074-35056074 9:35056077-35056077
38 VCP NM_007126.5(VCP):c.1293C>T (p.Asp431=)SNV Uncertain significance 914650 9:35061078-35061078 9:35061081-35061081
39 VCP NM_007126.5(VCP):c.794T>C (p.Phe265Ser)SNV Uncertain significance 913794 9:35062992-35062992 9:35062995-35062995
40 VCP NM_007126.5(VCP):c.697A>G (p.Ile233Val)SNV Uncertain significance 913795 9:35064162-35064162 9:35064165-35064165
41 VCP NM_007126.5(VCP):c.591C>G (p.Ser197=)SNV Uncertain significance 914191 9:35064268-35064268 9:35064271-35064271
42 VCP NM_007126.5(VCP):c.2345G>C (p.Gly782Ala)SNV Uncertain significance 835129 9:35057190-35057190 9:35057193-35057193
43 VCP NM_007126.5(VCP):c.2228C>T (p.Ala743Val)SNV Uncertain significance 837640 9:35057460-35057460 9:35057463-35057463
44 VCP NM_007126.5(VCP):c.1996G>A (p.Val666Ile)SNV Uncertain significance 847962 9:35059498-35059498 9:35059501-35059501
45 VCP NM_007126.5(VCP):c.995T>C (p.Met332Thr)SNV Uncertain significance 846874 9:35062086-35062086 9:35062089-35062089
46 VCP NM_007126.5(VCP):c.648A>G (p.Ile216Met)SNV Uncertain significance 836876 9:35064211-35064211 9:35064214-35064214
47 VCP NM_007126.5(VCP):c.446-4_446-3delinsATindel Uncertain significance 842949 9:35065381-35065382 9:35065384-35065385
48 VCP NM_007126.5(VCP):c.*367G>ASNV Uncertain significance 914100 9:35056747-35056747 9:35056750-35056750
49 VCP NM_007126.5(VCP):c.*217G>TSNV Uncertain significance 914610 9:35056897-35056897 9:35056900-35056900
50 VCP NM_007126.5(VCP):c.*216G>ASNV Uncertain significance 914611 9:35056898-35056898 9:35056901-35056901

UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:

73
# Symbol AA change Variation ID SNP ID
1 VCP p.Arg95Gly VAR_033016 rs121909332
2 VCP p.Arg155Cys VAR_033017 rs121909330
3 VCP p.Arg155His VAR_033018 rs121909329
4 VCP p.Arg155Pro VAR_033019 rs121909329
5 VCP p.Arg159His VAR_033020 rs121909335
6 VCP p.Arg191Gln VAR_033021 rs121909334
7 VCP p.Ala232Glu VAR_033022 rs121909331
8 VCP p.Arg155Ser VAR_076466
9 VCP p.Leu198Trp VAR_076468
10 VCP p.Arg155Leu VAR_078910

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Expression for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Search GEO for disease gene expression data for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1.
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Pathways for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Pathways related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Telomere Extension by Telomerase 63
Show member pathways
 9.95 HNRNPA2B1 HNRNPA1
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GO Terms for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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Cellular components related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.43 VCP HNRNPA2B1 HNRNPA1
2 ribonucleoprotein complex GO:1990904 9.16 HNRNPA2B1 HNRNPA1
3 spliceosomal complex GO:0005681 8.96 HNRNPA2B1 HNRNPA1
4 catalytic step 2 spliceosome GO:0071013 8.62 HNRNPA2B1 HNRNPA1

Biological processes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.37 HNRNPA2B1 HNRNPA1
2 RNA splicing GO:0008380 9.32 HNRNPA2B1 HNRNPA1
3 mRNA splicing, via spliceosome GO:0000398 9.26 HNRNPA2B1 HNRNPA1
4 mRNA transport GO:0051028 9.16 HNRNPA2B1 HNRNPA1
5 RNA metabolic process GO:0016070 8.96 HNRNPA2B1 HNRNPA1
6 regulation of RNA metabolic process GO:0051252 8.62 HNRNPA2B1 HNRNPA1

Molecular functions related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.33 VCP HNRNPA2B1 HNRNPA1
2 protein domain specific binding GO:0019904 9.32 VCP HNRNPA1
3 mRNA binding GO:0003729 9.26 HNRNPA2B1 HNRNPA1
4 miRNA binding GO:0035198 8.96 HNRNPA2B1 HNRNPA1
5 G-rich strand telomeric DNA binding GO:0098505 8.62 HNRNPA2B1 HNRNPA1
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Sources for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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