IBMPFD1
MCID: INC029
MIFTS: 27

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

Categories: Bone diseases, Genetic diseases, Mental 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 58 76
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 76 74
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 58 76
Pagetoid Amyotrophic Lateral Sclerosis 58 76
Pagetoid Neuroskeletal Syndrome 58 76
Ibmpfd1 58 76
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 58
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 58
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 76
Multisystem Proteinopathy 1; Msp1 58
Multisystem Proteinopathy 1 58
Msp1 58

Characteristics:

OMIM:

58
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:

33
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 : 58 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 inclusion body myopathy with early-onset paget disease and frontotemporal dementia, 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). Affiliated tissues include bone, and related phenotypes are facial palsy and gait disturbance

UniProtKB/Swiss-Prot : 76 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 in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 family:

Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2

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 paget disease of bone and frontotemporal dementia 11.8
2 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 11.7
3 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.6
4 malaria 10.6
5 plasmodium falciparum malaria 10.4
6 esophageal cancer 10.1
7 lung cancer 10.1
8 gallbladder cancer 10.1

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...

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

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 occasional (7.5%) HP:0010628
2 gait disturbance 33 HP:0001288
3 dysphasia 33 HP:0002357
4 myopathy 33 HP:0003198
5 dystonia 33 HP:0001332
6 back pain 33 HP:0003418
7 scapular winging 33 HP:0003691
8 rimmed vacuoles 33 HP:0003805
9 pelvic girdle muscle weakness 33 HP:0003749
10 amyotrophic lateral sclerosis 33 HP:0007354
11 dementia 33 HP:0000726
12 abnormality of pelvic girdle bone morphology 33 HP:0002644
13 proximal muscle weakness 33 HP:0003701
14 limb muscle weakness 33 HP:0003690
15 difficulty climbing stairs 33 HP:0003551
16 lumbar hyperlordosis 33 HP:0002938
17 distal amyotrophy 33 HP:0003693
18 frontotemporal dementia 33 HP:0002145
19 pelvic girdle amyotrophy 33 HP:0008946
20 shoulder girdle muscle weakness 33 HP:0003547
21 frontal cortical atrophy 33 HP:0006913
22 pelvic girdle muscle atrophy 33 HP:0008988
23 elevated alkaline phosphatase of bone origin 33 HP:0010639
24 shoulder girdle muscle atrophy 33 HP:0003724
25 hip pain 33 HP:0030838
26 temporal cortical atrophy 33 HP:0007112
27 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dystonia
gait abnormalities
frontotemporal dementia (in 30% of patients)
expressive dysphasia
dystrophic neurites
more
Muscle Soft Tissue:
rimmed vacuoles
proximal muscle weakness
distal muscle atrophy
muscle weakness (in 90% of patients)
shoulder weakness and atrophy
more
Laboratory Abnormalities:
increased serum creatine kinase
increased serum bone-specific alkaline phosphatase

Head And Neck Face:
facial weakness (less common)

Skeletal Spine:
back pain
lumbar lordosis

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD) Recruiting NCT01353430
2 Rare Disease Patient Registry & Natural History Study - 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

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:

42
Bone

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

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:

76
# 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 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 VCP NM_007126.4(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 GRCh37 Chromosome 9, 35057474: 35057474
2 VCP NM_007126.4(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 GRCh38 Chromosome 9, 35057477: 35057477
3 VCP NM_007126.3(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Likely benign rs145508640 GRCh37 Chromosome 9, 35057129: 35057129
4 VCP NM_007126.3(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Likely benign rs145508640 GRCh38 Chromosome 9, 35057132: 35057132
5 VCP NM_007126.4(VCP): c.463C> G (p.Arg155Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
6 VCP NM_007126.4(VCP): c.463C> G (p.Arg155Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909330 GRCh38 Chromosome 9, 35065364: 35065364
7 VCP NM_007126.3(VCP): c.271A> T (p.Asn91Tyr) single nucleotide variant Likely pathogenic rs863225291 GRCh38 Chromosome 9, 35067922: 35067922
8 VCP NM_007126.3(VCP): c.271A> T (p.Asn91Tyr) single nucleotide variant Likely pathogenic rs863225291 GRCh37 Chromosome 9, 35067919: 35067919
9 VCP NM_007126.4(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
10 VCP NM_007126.4(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh38 Chromosome 9, 35065363: 35065363
11 VCP NM_007126.4(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
12 VCP NM_007126.4(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh38 Chromosome 9, 35065364: 35065364
13 VCP NM_007126.4(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 GRCh37 Chromosome 9, 35064164: 35064164
14 VCP NM_007126.4(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 GRCh38 Chromosome 9, 35064167: 35064167
15 VCP NM_007126.4(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 GRCh37 Chromosome 9, 35067907: 35067907
16 VCP NM_007126.4(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 GRCh38 Chromosome 9, 35067910: 35067910
17 VCP NM_007126.4(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
18 VCP NM_007126.4(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 GRCh38 Chromosome 9, 35065363: 35065363
19 VCP NM_007126.4(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 GRCh37 Chromosome 9, 35065252: 35065252
20 VCP NM_007126.4(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 GRCh38 Chromosome 9, 35065255: 35065255
21 VCP NM_007126.4(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh37 Chromosome 9, 35065348: 35065348
22 VCP NM_007126.4(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh38 Chromosome 9, 35065351: 35065351
23 VCP NM_007126.4(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 GRCh37 Chromosome 9, 35059790: 35059790
24 VCP NM_007126.4(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 GRCh38 Chromosome 9, 35059793: 35059793
25 VCP NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT duplication Benign rs11272867 GRCh37 Chromosome 9, 35061694: 35061704
26 VCP NM_007126.3(VCP): c.1082-18_1082-8dupTTGTGTACTGT duplication Benign rs11272867 GRCh38 Chromosome 9, 35061697: 35061707
27 VCP NM_007126.3(VCP): c.283C> T (p.Arg95Cys) single nucleotide variant Likely pathogenic rs121909332 GRCh38 Chromosome 9, 35067910: 35067910
28 VCP NM_007126.3(VCP): c.283C> T (p.Arg95Cys) single nucleotide variant Likely pathogenic rs121909332 GRCh37 Chromosome 9, 35067907: 35067907
29 VCP NM_007126.3(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 GRCh37 Chromosome 9, 35060421: 35060421
30 VCP NM_007126.3(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 GRCh38 Chromosome 9, 35060424: 35060424
31 VCP NM_007126.3(VCP): c.79A> G (p.Ile27Val) single nucleotide variant Benign rs140913250 GRCh37 Chromosome 9, 35068298: 35068298
32 VCP NM_007126.3(VCP): c.79A> G (p.Ile27Val) single nucleotide variant Benign rs140913250 GRCh38 Chromosome 9, 35068301: 35068301
33 VCP NM_007126.4(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 GRCh38 Chromosome 9, 35068367: 35068367
34 VCP NM_007126.4(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 GRCh37 Chromosome 9, 35068364: 35068364
35 VCP NM_007126.4(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 GRCh38 Chromosome 9, 35061679: 35061679
36 VCP NM_007126.4(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 GRCh37 Chromosome 9, 35061676: 35061676
37 VCP NM_007126.4(VCP): c.927C> T (p.Ile309=) single nucleotide variant Benign/Likely benign rs34097935 GRCh38 Chromosome 9, 35062235: 35062235
38 VCP NM_007126.4(VCP): c.927C> T (p.Ile309=) single nucleotide variant Benign/Likely benign rs34097935 GRCh37 Chromosome 9, 35062232: 35062232
39 VCP NM_007126.4(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 GRCh37 Chromosome 9, 35067912: 35067912
40 VCP NM_007126.4(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 GRCh38 Chromosome 9, 35067915: 35067915
41 VCP NM_007126.4(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 GRCh38 Chromosome 9, 35057126: 35057126
42 VCP NM_007126.4(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 GRCh37 Chromosome 9, 35057123: 35057123
43 VCP NM_007126.4(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 GRCh38 Chromosome 9, 35066694: 35066694
44 VCP NM_007126.4(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 GRCh37 Chromosome 9, 35066691: 35066691
45 VCP NM_007126.4(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 GRCh37 Chromosome 9, 35065238: 35065238
46 VCP NM_007126.4(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 GRCh38 Chromosome 9, 35065241: 35065241
47 VCP NM_007126.4(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 GRCh38 Chromosome 9, 35059808: 35059808
48 VCP NM_007126.4(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 GRCh37 Chromosome 9, 35059805: 35059805
49 VCP NM_007126.4(VCP): c.1082-9G> T single nucleotide variant Benign rs12349922 GRCh37 Chromosome 9, 35061695: 35061695
50 VCP NM_007126.4(VCP): c.1082-9G> T single nucleotide variant Benign rs12349922 GRCh38 Chromosome 9, 35061698: 35061698

Expression 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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