MCID: INC004
MIFTS: 18

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

Categories: Rare diseases

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

MalaCards integrated aliases for Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:

Name: Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 53 25 29 13 6 73
Pagetoid Amyotrophic Lateral Sclerosis 53 25
Pagetoid Neuroskeletal Syndrome 53 25
Ibmpfd 53 25
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 25
Myopathy, Inclusion Body, with Early-Onset Paget Disease and Frontotemporal Dementia 40
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 25
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 53
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 25
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 25
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 53

Classifications:



External Ids:

UMLS 73 C1833662

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52430Disease definitionInclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.Visit the Orphanet disease page for more resources.

MalaCards based summary : Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia, also known as pagetoid amyotrophic lateral sclerosis, is related to inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 and inclusion body myopathy with paget disease of bone 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 and Frontotemporal Dementia is VCP (Valosin Containing Protein). Affiliated tissues include bone and brain.

Genetics Home Reference : 25 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.

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

Diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 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 with or without frontotemporal dementia 1 11.9
2 inclusion body myopathy with paget disease of bone and frontotemporal dementia 11.6
3 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.5

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

UMLS symptoms related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:


back pain, hip pain

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

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

Search NIH Clinical Center for Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia

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

Genetic tests related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:

# Genetic test Affiliating Genes
1 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 29 VCP

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

MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:

41
Bone, Brain

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

Articles related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:

# Title Authors Year
1
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. ( 22909335 )
2013
2
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia ( 20301649 )
1993

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

ClinVar genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:

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

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

Search GEO for disease gene expression data for Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia.

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

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

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

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