MCID: INC004
MIFTS: 19

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 50 25 29 13 69
Pagetoid Amyotrophic Lateral Sclerosis 50 25
Pagetoid Neuroskeletal Syndrome 50 25
Ibmpfd 50 25
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia 25
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia 25
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 50
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 50

Classifications:



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

NIH Rare Diseases : 50 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 paget disease of bone and frontotemporal dementia and inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1, 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:

id Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with paget disease of bone and frontotemporal dementia 12.7
2 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 12.6
3 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 11.4
4 dementia 10.3
5 myopathy 10.3

Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia:



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

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:


id 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:

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

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:

39
Bone, Brain

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

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
id Gene Variation Type Significance SNP ID Assembly Location
1 VCP NM_007126.3(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
2 VCP NM_007126.3(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 GRCh37 Chromosome 9, 35065361: 35065361
3 VCP NM_007126.3(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 GRCh37 Chromosome 9, 35064164: 35064164
4 VCP NM_007126.3(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 GRCh37 Chromosome 9, 35067907: 35067907
5 VCP NM_007126.3(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 GRCh37 Chromosome 9, 35065360: 35065360
6 VCP NM_007126.3(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic rs121909334 GRCh37 Chromosome 9, 35065252: 35065252
7 VCP NM_007126.3(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 GRCh37 Chromosome 9, 35065348: 35065348
8 VCP NM_007126.3(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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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....