Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INC029 MIFTS: 25	Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 Categories: Genetic diseases
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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 ⁵⁷ ⁷⁵

Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia ⁷⁵ ⁷³

Lower Motor Neuron Degeneration with Paget-Like Bone Disease ⁵⁷ ⁷⁵

Pagetoid Amyotrophic Lateral Sclerosis ⁵⁷ ⁷⁵

Pagetoid Neuroskeletal Syndrome ⁵⁷ ⁷⁵

Ibmpfd1 ⁵⁷ ⁷⁵

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 ⁷⁵

Multisystem Proteinopathy 1; Msp1 ⁵⁷

Multisystem Proteinopathy 1 ⁵⁷

Msp1 ⁵⁷

Characteristics:

OMIM:

⁵⁷

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:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 167320

MedGen ⁴² C1833662

MeSH ⁴⁴ D010001 D018979 D049288 more

SNOMED-CT via HPO ⁶⁹ 263681008 52448006 22325002 more

UMLS ⁷³ C1833662

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

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)

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 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 gait disturbance and dysphasia

UniProtKB/Swiss-Prot : ⁷⁵ 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...

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
1	inclusion body myopathy with early-onset paget disease and frontotemporal dementia	11.5
2	malaria	10.4
3	plasmodium falciparum malaria	10.2
4	esophageal cancer	9.9
5	lung cancer	9.9
6	esophagitis	9.9
7	gallbladder cancer	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...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
dystonia
gait abnormalities
frontotemporal dementia (in 30% of patients)
expressive dysphasia
dystrophic neurites
more

Muscle Soft Tissue:
proximal muscle weakness
rimmed vacuoles
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

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

³² (show all 27)

#	Description	HPO Frequency	HPO Source Accession
1	gait disturbance ³²		HP:0001288
2	dysphasia ³²		HP:0002357
3	facial palsy ³²	occasional (7.5%)	HP:0010628
4	myopathy ³²		HP:0003198
5	elevated serum creatine phosphokinase ³²		HP:0003236
6	dystonia ³²		HP:0001332
7	scapular winging ³²		HP:0003691
8	amyotrophic lateral sclerosis ³²		HP:0007354
9	dementia ³²		HP:0000726
10	back pain ³²		HP:0003418
11	abnormality of pelvic girdle bone morphology ³²		HP:0002644
12	limb muscle weakness ³²		HP:0003690
13	proximal muscle weakness ³²		HP:0003701
14	rimmed vacuoles ³²		HP:0003805
15	lumbar hyperlordosis ³²		HP:0002938
16	distal amyotrophy ³²		HP:0003693
17	frontotemporal dementia ³²		HP:0002145
18	difficulty climbing stairs ³²		HP:0003551
19	pelvic girdle muscle weakness ³²		HP:0003749
20	shoulder girdle muscle weakness ³²		HP:0003547
21	frontal cortical atrophy ³²		HP:0006913
22	elevated alkaline phosphatase of bone origin ³²		HP:0010639
23	shoulder girdle muscle atrophy ³²		HP:0003724
24	hip pain ³²		HP:0030838
25	temporal cortical atrophy ³²		HP:0007112
26	pelvic girdle muscle atrophy ³²		HP:0008988
27	pelvic girdle amyotrophy ³²		HP:0008946

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

back pain, hip pain

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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

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

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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:

⁴¹

Bone

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

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

Genes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	VCP	Valosin Containing Protein	Protein Coding	1255.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15034582 20301649 16321991 (more) 7182974 21320982 20301623 18341608 21145000 21984748 16247064 19704082

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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:

⁷⁵

#	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 78)

#	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.464G> A (p.Arg155His)	single nucleotide variant	Pathogenic	rs121909329	GRCh38	Chromosome 9, 35065363: 35065363
3	VCP	NM_007126.4(VCP): c.463C> T (p.Arg155Cys)	single nucleotide variant	Pathogenic	rs121909330	GRCh37	Chromosome 9, 35065361: 35065361
4	VCP	NM_007126.4(VCP): c.463C> T (p.Arg155Cys)	single nucleotide variant	Pathogenic	rs121909330	GRCh38	Chromosome 9, 35065364: 35065364
5	VCP	NM_007126.4(VCP): c.695C> A (p.Ala232Glu)	single nucleotide variant	Pathogenic	rs121909331	GRCh37	Chromosome 9, 35064164: 35064164
6	VCP	NM_007126.4(VCP): c.695C> A (p.Ala232Glu)	single nucleotide variant	Pathogenic	rs121909331	GRCh38	Chromosome 9, 35064167: 35064167
7	VCP	NM_007126.4(VCP): c.283C> G (p.Arg95Gly)	single nucleotide variant	Pathogenic	rs121909332	GRCh37	Chromosome 9, 35067907: 35067907
8	VCP	NM_007126.4(VCP): c.283C> G (p.Arg95Gly)	single nucleotide variant	Pathogenic	rs121909332	GRCh38	Chromosome 9, 35067910: 35067910
9	VCP	NM_007126.4(VCP): c.464G> C (p.Arg155Pro)	single nucleotide variant	Pathogenic	rs121909329	GRCh37	Chromosome 9, 35065360: 35065360
10	VCP	NM_007126.4(VCP): c.464G> C (p.Arg155Pro)	single nucleotide variant	Pathogenic	rs121909329	GRCh38	Chromosome 9, 35065363: 35065363
11	VCP	NM_007126.4(VCP): c.572G> A (p.Arg191Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909334	GRCh37	Chromosome 9, 35065252: 35065252
12	VCP	NM_007126.4(VCP): c.572G> A (p.Arg191Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909334	GRCh38	Chromosome 9, 35065255: 35065255
13	VCP	NM_007126.4(VCP): c.476G> A (p.Arg159His)	single nucleotide variant	Pathogenic	rs121909335	GRCh37	Chromosome 9, 35065348: 35065348
14	VCP	NM_007126.4(VCP): c.476G> A (p.Arg159His)	single nucleotide variant	Pathogenic	rs121909335	GRCh38	Chromosome 9, 35065351: 35065351
15	VCP	NM_007126.4(VCP): c.2214A> G (p.Glu738=)	single nucleotide variant	Benign/Likely benign	rs374391034	GRCh37	Chromosome 9, 35057474: 35057474
16	VCP	NM_007126.4(VCP): c.2214A> G (p.Glu738=)	single nucleotide variant	Benign/Likely benign	rs374391034	GRCh38	Chromosome 9, 35057477: 35057477
17	VCP	NM_007126.3(VCP): c.2406T> C (p.Asp802=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145508640	GRCh37	Chromosome 9, 35057129: 35057129
18	VCP	NM_007126.3(VCP): c.2406T> C (p.Asp802=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145508640	GRCh38	Chromosome 9, 35057132: 35057132
19	VCP	NM_007126.4(VCP): c.463C> G (p.Arg155Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909330	GRCh37	Chromosome 9, 35065361: 35065361
20	VCP	NM_007126.4(VCP): c.463C> G (p.Arg155Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121909330	GRCh38	Chromosome 9, 35065364: 35065364
21	VCP	NM_007126.3(VCP): c.271A> T (p.Asn91Tyr)	single nucleotide variant	Likely pathogenic	rs863225291	GRCh38	Chromosome 9, 35067922: 35067922
22	VCP	NM_007126.3(VCP): c.271A> T (p.Asn91Tyr)	single nucleotide variant	Likely pathogenic	rs863225291	GRCh37	Chromosome 9, 35067919: 35067919
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.1584C> T (p.Ala528=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147623367	GRCh37	Chromosome 9, 35060421: 35060421
28	VCP	NM_007126.3(VCP): c.1584C> T (p.Ala528=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147623367	GRCh38	Chromosome 9, 35060424: 35060424
29	VCP	NM_007126.3(VCP): c.79A> G (p.Ile27Val)	single nucleotide variant	Benign	rs140913250	GRCh37	Chromosome 9, 35068298: 35068298
30	VCP	NM_007126.3(VCP): c.79A> G (p.Ile27Val)	single nucleotide variant	Benign	rs140913250	GRCh38	Chromosome 9, 35068301: 35068301
31	VCP	NM_007126.4(VCP): c.18-5T> C	single nucleotide variant	Benign/Likely benign	rs114256093	GRCh37	Chromosome 9, 35068364: 35068364
32	VCP	NM_007126.4(VCP): c.18-5T> C	single nucleotide variant	Benign/Likely benign	rs114256093	GRCh38	Chromosome 9, 35068367: 35068367
33	VCP	NM_007126.4(VCP): c.1092C> T (p.Asp364=)	single nucleotide variant	Benign/Likely benign	rs61752947	GRCh37	Chromosome 9, 35061676: 35061676
34	VCP	NM_007126.4(VCP): c.1092C> T (p.Asp364=)	single nucleotide variant	Benign/Likely benign	rs61752947	GRCh38	Chromosome 9, 35061679: 35061679
35	VCP	NM_007126.4(VCP): c.927C> T (p.Ile309=)	single nucleotide variant	Benign/Likely benign	rs34097935	GRCh38	Chromosome 9, 35062235: 35062235
36	VCP	NM_007126.4(VCP): c.927C> T (p.Ile309=)	single nucleotide variant	Benign/Likely benign	rs34097935	GRCh37	Chromosome 9, 35062232: 35062232
37	VCP	NM_007126.4(VCP): c.278G> A (p.Arg93His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779959657	GRCh37	Chromosome 9, 35067912: 35067912
38	VCP	NM_007126.4(VCP): c.278G> A (p.Arg93His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs779959657	GRCh38	Chromosome 9, 35067915: 35067915
39	VCP	NM_007126.4(VCP): c.2412G> A (p.Leu804=)	single nucleotide variant	Likely benign	rs757712897	GRCh38	Chromosome 9, 35057126: 35057126
40	VCP	NM_007126.4(VCP): c.2412G> A (p.Leu804=)	single nucleotide variant	Likely benign	rs757712897	GRCh37	Chromosome 9, 35057123: 35057123
41	VCP	NM_007126.4(VCP): c.426G> A (p.Ala142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs577812326	GRCh38	Chromosome 9, 35066694: 35066694
42	VCP	NM_007126.4(VCP): c.426G> A (p.Ala142=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs577812326	GRCh37	Chromosome 9, 35066691: 35066691
43	VCP	NM_007126.4(VCP): c.576+10C> G	single nucleotide variant	Likely benign	rs757728490	GRCh37	Chromosome 9, 35065238: 35065238
44	VCP	NM_007126.4(VCP): c.576+10C> G	single nucleotide variant	Likely benign	rs757728490	GRCh38	Chromosome 9, 35065241: 35065241
45	VCP	NM_007126.4(VCP): c.1696-7C> T	single nucleotide variant	Likely benign		GRCh37	Chromosome 9, 35059805: 35059805
46	VCP	NM_007126.4(VCP): c.1696-7C> T	single nucleotide variant	Likely benign		GRCh38	Chromosome 9, 35059808: 35059808
47	VCP	NM_007126.4(VCP): c.1082-9G> T	single nucleotide variant	Benign	rs12349922	GRCh37	Chromosome 9, 35061695: 35061695
48	VCP	NM_007126.4(VCP): c.1082-9G> T	single nucleotide variant	Benign	rs12349922	GRCh38	Chromosome 9, 35061698: 35061698
49	VCP	NM_007126.4(VCP): c.1017A> G (p.Ala339=)	single nucleotide variant	Likely benign	rs565534943	GRCh37	Chromosome 9, 35062064: 35062064
50	VCP	NM_007126.4(VCP): c.1017A> G (p.Ala339=)	single nucleotide variant	Likely benign	rs565534943	GRCh38	Chromosome 9, 35062067: 35062067

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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.

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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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