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IBMPFD1
MCID: INC029
MIFTS: 37

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

Categories: Bone diseases, Genetic diseases, Mental diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications 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 57 73 29 6
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 73 71
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 57 73
Pagetoid Amyotrophic Lateral Sclerosis 57 73
Pagetoid Neuroskeletal Syndrome 57 73
Ibmpfd1 57 73
Inclusion Body Myopathy Without Early-Onset Paget Disease and Frontotemporal Dementia 1 6
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 57
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 57
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 73
Multisystem Proteinopathy 1; Msp1 57
Multisystem Proteinopathy 1 57
Msp1 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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 Muscle diseases Mental diseases
See all MalaCards categories (disease lists)


Sources

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

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OMIM® : 57 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) (Updated 05-Mar-2021)

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). The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are facial palsy and gait disturbance

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 25)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 11.6
2 multisystem proteinopathy 11.6
3 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 11.0
4 malaria 10.6
5 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 10.5
6 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.5
7 frontotemporal dementia 10.5
8 miyoshi muscular dystrophy 10.5
9 dementia 10.5
10 myopathy 10.5
11 plasmodium falciparum malaria 10.4
12 tetanus 10.0
13 plasmodium vivax malaria 10.0
14 mycobacterium kansasii 10.0
15 esophageal cancer 9.9
16 triiodothyronine receptor auxiliary protein 9.9
17 gallbladder disease 1 9.9
18 platelet glycoprotein iv deficiency 9.9
19 disease by infectious agent 9.9
20 rabies 9.9
21 gallbladder cancer 9.9
22 vaccinia 9.9
23 splenomegaly 9.9
24 rapidly involuting congenital hemangioma 9.9
25 argyria 9.9

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 gait disturbance 31 HP:0001288
3 dysphasia 31 HP:0002357
4 myopathy 31 HP:0003198
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 limb muscle weakness 31 HP:0003690
13 dementia 31 HP:0000726
14 hip pain 31 HP:0030838
15 distal amyotrophy 31 HP:0003693
16 proximal muscle weakness 31 HP:0003701
17 frontal cortical atrophy 31 HP:0006913
18 shoulder girdle muscle atrophy 31 HP:0003724
19 lumbar hyperlordosis 31 HP:0002938
20 temporal cortical atrophy 31 HP:0007112
21 difficulty climbing stairs 31 HP:0003551
22 shoulder girdle muscle weakness 31 HP:0003547
23 frontotemporal dementia 31 HP:0002145
24 amyotrophic lateral sclerosis 31 HP:0007354
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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


back pain, hip pain
Sources

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 1, Phase 2
2 Vaccines Phase 1, Phase 2
3
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
4
Neomycin Approved, Vet_approved Phase 1 1404-04-2 8378
5 Gastrointestinal Agents Phase 1
6 Antacids Phase 1
7 Anti-Ulcer Agents Phase 1
8 Adjuvants, Immunologic Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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
6 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430

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
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
One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia. 61 57 6
27538664 2016
2
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. 6 57
31848255 2020
3
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 57 6
21984748 2012
4
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. 57 6
21320982 2011
5
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 6 57
19704082 2009
6
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. 6 57
18341608 2008
7
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 6 57
16247064 2005
8
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. 6 57
15034582 2004
9
A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization. 6 57
7182974 1982
10
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. 57
28692196 2018
11
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 57
26208961 2015
12
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. 57
22909335 2013
13
Exome sequencing reveals VCP mutations as a cause of familial ALS. 6
21145000 2010
14
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. 57
20147319 2010
15
Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. 57
19924424 2010
16
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. 57
19380227 2009
17
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. 57
18260132 2008
18
Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice. 57
17329348 2007
19
Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. 6
16321991 2006
20
Mutant valosin-containing protein causes a novel type of frontotemporal dementia. 57
15732117 2005
21
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. 57
11749051 2001
22
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 57
11252708 2000
Sources

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 139)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364
2 VCP NM_007126.5(VCP):c.695C>A (p.Ala232Glu) SNV Pathogenic 8470 rs121909331 9:35064164-35064164 9:35064167-35064167
3 VCP NM_007126.5(VCP):c.283C>G (p.Arg95Gly) SNV Pathogenic 8471 rs121909332 9:35067907-35067907 9:35067910-35067910
4 VCP NM_007126.5(VCP):c.464G>C (p.Arg155Pro) SNV Pathogenic 8472 rs121909329 9:35065360-35065360 9:35065363-35065363
5 VCP NM_007126.5(VCP):c.476G>A (p.Arg159His) SNV Pathogenic 8474 rs121909335 9:35065348-35065348 9:35065351-35065351
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.277C>T (p.Arg93Cys) SNV Pathogenic 593071 rs1554669087 9:35067913-35067913 9:35067916-35067916
8 VCP NM_007126.5(VCP):c.475C>T (p.Arg159Cys) SNV Pathogenic 280123 rs387906789 9:35065349-35065349 9:35065352-35065352
9 VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364
10 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His) SNV Pathogenic 8468 rs121909329 9:35065360-35065360 9:35065363-35065363
11 VCP NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) SNV Pathogenic 217877 rs863225291 9:35067919-35067919 9:35067922-35067922
12 VCP NM_007126.5(VCP):c.464G>A (p.Arg155His) SNV Pathogenic 8468 rs121909329 9:35065360-35065360 9:35065363-35065363
13 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 9:35065252-35065252 9:35065255-35065255
14 VCP NM_007126.5(VCP):c.572G>A (p.Arg191Gln) SNV Pathogenic 8473 rs121909334 9:35065252-35065252 9:35065255-35065255
15 VCP NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) SNV Likely pathogenic 217877 rs863225291 9:35067919-35067919 9:35067922-35067922
16 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely pathogenic 280124 rs121909332 9:35067907-35067907 9:35067910-35067910
17 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely pathogenic 280124 rs121909332 9:35067907-35067907 9:35067910-35067910
18 VCP NM_007126.5(VCP):c.294T>A (p.Asp98Glu) SNV Likely pathogenic 976025 9:35067896-35067896 9:35067899-35067899
19 VCP NM_007126.5(VCP):c.463C>G (p.Arg155Gly) SNV Likely pathogenic 217028 rs121909330 9:35065361-35065361 9:35065364-35065364
20 VCP NM_007126.5(VCP):c.*172C>G SNV Uncertain significance 366713 rs886063890 9:35056942-35056942 9:35056945-35056945
21 VCP NM_007126.5(VCP):c.*700C>A SNV Uncertain significance 366706 rs537730311 9:35056414-35056414 9:35056417-35056417
22 VCP NM_007126.5(VCP):c.*788G>A SNV Uncertain significance 366705 rs886063887 9:35056326-35056326 9:35056329-35056329
23 VCP NM_007126.5(VCP):c.*64C>T SNV Uncertain significance 366715 rs553370942 9:35057050-35057050 9:35057053-35057053
24 VCP NM_007126.5(VCP):c.*184G>A SNV Uncertain significance 366712 rs886063889 9:35056930-35056930 9:35056933-35056933
25 VCP NM_007126.5(VCP):c.-250C>T SNV Uncertain significance 366725 rs886063894 9:35072600-35072600 9:35072603-35072603
26 VCP NM_007126.5(VCP):c.-53C>T SNV Uncertain significance 366722 rs369830702 9:35072403-35072403 9:35072406-35072406
27 VCP NM_007126.5(VCP):c.1360-6T>C SNV Uncertain significance 366717 rs370296303 9:35060926-35060926 9:35060929-35060929
28 VCP NM_007126.5(VCP):c.-215A>G SNV Uncertain significance 366723 rs886063893 9:35072565-35072565 9:35072568-35072568
29 VCP NM_007126.5(VCP):c.*382C>T SNV Uncertain significance 366710 rs749381324 9:35056732-35056732 9:35056735-35056735
30 VCP NM_007126.5(VCP):c.*347C>T SNV Uncertain significance 366711 rs886063888 9:35056767-35056767 9:35056770-35056770
31 VCP NM_007126.3(VCP):c.-370G>A SNV Uncertain significance 366727 rs886063895 9:35072720-35072720 9:35072723-35072723
32 VCP NM_007126.5(VCP):c.185A>G (p.Lys62Arg) SNV Uncertain significance 366720 rs886063892 9:35068005-35068005 9:35068008-35068008
33 VCP NM_007126.5(VCP):c.811+2_811+3inv Inversion Uncertain significance 464111 9:35062972-35062973 9:35062975-35062976
34 VCP NM_007126.5(VCP):c.303-3C>T SNV Uncertain significance 464108 rs1183711292 9:35066817-35066817 9:35066820-35066820
35 VCP NM_007126.5(VCP):c.479C>T (p.Ala160Val) SNV Uncertain significance 532758 rs1554668804 9:35065345-35065345 9:35065348-35065348
36 VCP NM_007126.5(VCP):c.1360-4C>G SNV Uncertain significance 532759 rs769279961 9:35060924-35060924 9:35060927-35060927
37 VCP NM_007126.5(VCP):c.278G>A (p.Arg93His) SNV Uncertain significance 449554 rs779959657 9:35067912-35067912 9:35067915-35067915
38 VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His) SNV Uncertain significance 532760 rs770514866 9:35061044-35061044 9:35061047-35061047
39 VCP NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) SNV Uncertain significance 568017 rs1329151473 9:35057138-35057138 9:35057141-35057141
40 VCP NM_007126.5(VCP):c.374G>A (p.Gly125Asp) SNV Uncertain significance 569394 rs1563980403 9:35066743-35066743 9:35066746-35066746
41 VCP NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) SNV Uncertain significance 572697 rs765795425 9:35059510-35059510 9:35059513-35059513
42 VCP NM_007126.5(VCP):c.320A>T (p.Asp107Val) SNV Uncertain significance 575232 rs1563980440 9:35066797-35066797 9:35066800-35066800
43 VCP NM_007126.5(VCP):c.84T>A (p.Val28=) SNV Uncertain significance 638960 rs1587130660 9:35068293-35068293 9:35068296-35068296
44 VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile) SNV Uncertain significance 640109 rs200911363 9:35065312-35065312 9:35065315-35065315
45 VCP NM_007126.5(VCP):c.1194+3G>A SNV Uncertain significance 565903 rs183223259 9:35061571-35061571 9:35061574-35061574
46 VCP NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) SNV Uncertain significance 835129 9:35057190-35057190 9:35057193-35057193
47 VCP NM_007126.5(VCP):c.648A>G (p.Ile216Met) SNV Uncertain significance 836876 9:35064211-35064211 9:35064214-35064214
48 VCP NM_007126.5(VCP):c.2228C>T (p.Ala743Val) SNV Uncertain significance 837640 9:35057460-35057460 9:35057463-35057463
49 VCP NM_007126.5(VCP):c.446-4_446-3delinsAT Indel Uncertain significance 842949 9:35065381-35065382 9:35065384-35065385
50 VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro) SNV Uncertain significance 595911 rs758169026 9:35067906-35067906 9:35067909-35067909

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 rs121909330
9 VCP p.Leu198Trp VAR_076468 rs748447593
10 VCP p.Arg155Leu VAR_078910 rs121909329

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

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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
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
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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