MCID: INC004
MIFTS: 20

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 49 24 28 13 69
Pagetoid Amyotrophic Lateral Sclerosis 49 24
Pagetoid Neuroskeletal Syndrome 49 24
Ibmpfd 49 24
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 24
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 24
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 49
Lower Motor Neuron Degeneration with Paget-Like Bone Disease 24
Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone 24
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone 49

Classifications:



External Ids:

UMLS 69 C1833662

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

NIH Rare Diseases : 49 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. Last updated: 9/29/2015

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 hip pain and back 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 : 24 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:


hip pain, back 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 28 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:

38
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
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. ( 23333620 )
2013
2
Neuronal-specific overexpression of a mutant valosin-containing protein associated with IBMPFD promotes aberrant ubiquitin and TDP-43 accumulation and cognitive dysfunction in transgenic mice. ( 23747512 )
2013
3
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family. ( 23000505 )
2013
4
[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]. ( 22699758 )
2012
5
Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). ( 21607982 )
2011
6
Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. ( 20147319 )
2010
7
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. ( 20104022 )
2010
8
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). ( 17224685 )
2007

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
# 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....