MCID: INC029
MIFTS: 29

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

Categories: Genetic diseases

Aliases & Classifications for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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 53 71
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 71 69
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 53 71
Pagetoid Amyotrophic Lateral Sclerosis 53 71
Pagetoid Neuroskeletal Syndrome 53 71
Ibmpfd1 53 71
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 53
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 53
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 71
Multisystem Proteinopathy 1; Msp1 53
Multisystem Proteinopathy 1 53
Msp1 53

Characteristics:

OMIM:

53
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:



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

OMIM : 53 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 early-onset paget disease and frontotemporal dementia and malaria, and has symptoms including back pain, dystonia 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). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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.

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

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:

# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 11.5
2 malaria 10.2
3 plasmodium falciparum malaria 10.1
4 esophageal cancer 9.8
5 lung cancer 9.8
6 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 9.8
7 esophagitis 9.8
8 gallbladder cancer 9.8

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

Symptoms & Phenotypes for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

Symptoms via clinical synopsis from OMIM:

53
SkeletalSpine:
back pain
lumbar lordosis

SkeletalPelvis:
hip pain

LaboratoryAbnormalities:
increased serum creatine kinase
increased serum bone-specific alkaline phosphatase

HeadAndNeckFace:
facial weakness (less common)

NeurologicCentralNervousSystem:
dystonia
gait abnormalities
frontotemporal dementia (in 30% of patients)
expressive dysphasia
dystrophic neurites
more
MuscleSoftTissue:
proximal muscle weakness
rimmed vacuoles
distal muscle atrophy
muscle weakness (in 90% of patients)
shoulder weakness and atrophy
more
ChestRibsSternumClaviclesAndScapulae:
winged scapulae

Skeletal:
paget disease (in 50% of patients)


Clinical features from OMIM:

167320

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

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

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


hip pain, back pain

Drugs & Therapeutics for Inclusion Body Myopathy with Early-Onset Paget Disease with or...

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

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

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

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

38
Bone

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

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

# Title Authors Year
1
Processing of Plasmodium falciparum Merozoite Surface Protein MSP1 Activates a Spectrin-Binding Function Enabling Parasite Egress from RBCs. ( 26468747 )
2015
2
Correction: Phase I Clinical Trial of a Recombinant Blood Stage Vaccine Candidate for Plasmodium falciparum Malaria Based on MSP1 and EBA175. ( 26332825 )
2015
3
Analysis of Human B cell Responses following ChAd63-MVA MSP1 and AMA1 Immunization and Controlled Malaria Infection. ( 24303947 )
2013
4
Evaluation of parasite subpopulations and genetic diversity of the msp1, msp2 and glurp genes during and following artesunate monotherapy treatment of Plasmodium falciparum malaria in Western Cambodia. ( 24206588 )
2013
5
Identification and characterization of the merozoite surface protein 1 (msp1) gene in a host-generalist avian malaria parasite, Plasmodium relictum (lineages SGS1 and GRW4) with the use of blood transcriptome. ( 24172200 )
2013
6
Association of CYP1A1 Msp1 polymorphism with tobacco-related risk of gallbladder cancer in a north Indian population. ( 18287863 )
2008
7
Phase 1 study of two merozoite surface protein 1 (MSP1(42)) vaccines for Plasmodium falciparum malaria. ( 17415408 )
2007
8
CYP1A1 Msp1 T/C polymorphism in esophageal cancer: no association and risk modulation. ( 18074679 )
2007
9
The role of CYP1A1 Msp1 gene polymorphisms on lung cancer development in Turkey. ( 15765281 )
2005
10
[Association of cytochrome P450 gene MSP1 polymorphism and risk of preterm]. ( 15605089 )
2004

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

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

71
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VCP NM_007126.4(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
2 VCP NM_007126.4(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
3 VCP NM_007126.4(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 GRCh37 Chromosome 9, 35064164: 35064164
4 VCP NM_007126.4(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 GRCh37 Chromosome 9, 35067907: 35067907
5 VCP NM_007126.4(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
6 VCP NM_007126.4(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 GRCh37 Chromosome 9, 35065252: 35065252
7 VCP NM_007126.4(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh37 Chromosome 9, 35065348: 35065348
8 VCP NM_007126.4(VCP): c.463C> G (p.Arg155Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
9 VCP NM_007126.3(VCP): c.271A> T (p.Asn91Tyr) single nucleotide variant Likely pathogenic rs863225291 GRCh38 Chromosome 9, 35067922: 35067922

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

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

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

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

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

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