MCID: INC004
MIFTS: 23

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 6 72
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:



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UMLS 72 C1833662

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

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. The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure. About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Rarely, this condition can weaken bones so much that they break (fracture). In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. People with frontotemporal dementia initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Over time, the condition damages parts of the brain that control reasoning, personality, social skills, speech, and language. Personality changes, a loss of judgment, and inappropriate social behavior are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves. People with IBMPFD usually live into their fifties or sixties.

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, brain and heart.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52430DefinitionInclusion 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.

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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 12.3
2 inclusion body myopathy with paget disease of bone and frontotemporal dementia 12.0
3 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 11.8
4 agraphia 10.4
5 scoliosis 10.4
6 dyscalculia 10.4
7 alexia 10.4
8 dysgraphia 10.4
9 muscular dystrophy 10.4
10 limb-girdle muscular dystrophy 10.4
11 frontotemporal dementia 10.4
12 miyoshi muscular dystrophy 10.4
13 dementia 10.4
14 myopathy 10.4
15 paget's disease of bone 10.4
16 mammary paget's disease 10.4
17 semantic dementia 10.4
18 amyotrophic lateral sclerosis 1 10.1
19 lateral sclerosis 10.1
20 motor neuron disease 10.1

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:


# Name Status NCT ID Phase Drugs
1 Characterization of Familial Myopathy and Paget Disease of Bone Recruiting NCT01353430
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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, Heart

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 PMID Year
1
Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum. 38
30955949 2019
2
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 38
25492614 2014

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 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VCP NM_007126.5(VCP): c.464G> A (p.Arg155His) single nucleotide variant Pathogenic rs121909329 9:35065360-35065360 9:35065363-35065363
2 VCP NM_007126.5(VCP): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs121909330 9:35065361-35065361 9:35065364-35065364
3 VCP NM_007126.5(VCP): c.695C> A (p.Ala232Glu) single nucleotide variant Pathogenic rs121909331 9:35064164-35064164 9:35064167-35064167
4 VCP NM_007126.5(VCP): c.283C> G (p.Arg95Gly) single nucleotide variant Pathogenic rs121909332 9:35067907-35067907 9:35067910-35067910
5 VCP NM_007126.5(VCP): c.464G> C (p.Arg155Pro) single nucleotide variant Pathogenic rs121909329 9:35065360-35065360 9:35065363-35065363
6 VCP NM_007126.5(VCP): c.476G> A (p.Arg159His) single nucleotide variant Pathogenic rs121909335 9:35065348-35065348 9:35065351-35065351
7 VCP NM_007126.5(VCP): c.475C> T (p.Arg159Cys) single nucleotide variant Pathogenic rs387906789 9:35065349-35065349 9:35065352-35065352
8 VCP NM_007126.5(VCP): c.277C> T (p.Arg93Cys) single nucleotide variant Pathogenic 9:35067913-35067913 9:35067916-35067916
9 VCP NM_007126.5(VCP): c.572G> A (p.Arg191Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909334 9:35065252-35065252 9:35065255-35065255
10 VCP NM_007126.5(VCP): c.271A> T (p.Asn91Tyr) single nucleotide variant Likely pathogenic rs863225291 9:35067919-35067919 9:35067922-35067922
11 VCP NM_007126.5(VCP): c.283C> T (p.Arg95Cys) single nucleotide variant Likely pathogenic rs121909332 9:35067907-35067907 9:35067910-35067910
12 VCP NM_007126.5(VCP): c.1584C> T (p.Ala528=) single nucleotide variant Conflicting interpretations of pathogenicity rs147623367 9:35060421-35060421 9:35060424-35060424
13 VCP NM_007126.5(VCP): c.2406T> C (p.Asp802=) single nucleotide variant Conflicting interpretations of pathogenicity rs145508640 9:35057129-35057129 9:35057132-35057132
14 VCP NM_007126.5(VCP): c.463C> G (p.Arg155Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121909330 9:35065361-35065361 9:35065364-35065364
15 VCP NM_007126.5(VCP): c.426G> A (p.Ala142=) single nucleotide variant Conflicting interpretations of pathogenicity rs577812326 9:35066691-35066691 9:35066694-35066694
16 VCP NM_007126.5(VCP): c.278G> A (p.Arg93His) single nucleotide variant Conflicting interpretations of pathogenicity rs779959657 9:35067912-35067912 9:35067915-35067915
17 VCP NM_007126.5(VCP): c.303-3C> T single nucleotide variant Uncertain significance rs1183711292 9:35066817-35066817 9:35066820-35066820
18 VCP NM_007126.5(VCP): c.811+2_811+3inv inversion Uncertain significance rs1554668584 9:35062972-35062973 9:35062975-35062976
19 VCP NM_007126.5(VCP): c.478G> C (p.Ala160Pro) single nucleotide variant Uncertain significance rs1554668805 9:35065346-35065346 9:35065349-35065349
20 VCP NM_007126.5(VCP): c.1360-4C> G single nucleotide variant Uncertain significance rs769279961 9:35060924-35060924 9:35060927-35060927
21 VCP NM_007126.5(VCP): c.553G> A (p.Glu185Lys) single nucleotide variant Uncertain significance rs864309501 9:35065271-35065271 9:35065274-35065274
22 VCP NM_007126.5(VCP): c.1327A> C (p.Asn443His) single nucleotide variant Uncertain significance rs770514866 9:35061044-35061044 9:35061047-35061047
23 VCP NM_007126.5(VCP): c.479C> T (p.Ala160Val) single nucleotide variant Uncertain significance rs1554668804 9:35065345-35065345 9:35065348-35065348
24 VCP NM_007126.5(VCP): c.2397C> G (p.Asp799Glu) single nucleotide variant Uncertain significance 9:35057138-35057138 9:35057141-35057141
25 VCP NM_007126.5(VCP): c.1984C> T (p.Arg662Cys) single nucleotide variant Uncertain significance 9:35059510-35059510 9:35059513-35059513
26 VCP NM_007126.5(VCP): c.1194+3G> A single nucleotide variant Uncertain significance 9:35061571-35061571 9:35061574-35061574
27 VCP NM_007126.5(VCP): c.374G> A (p.Gly125Asp) single nucleotide variant Uncertain significance 9:35066743-35066743 9:35066746-35066746
28 VCP NM_007126.5(VCP): c.320A> T (p.Asp107Val) single nucleotide variant Uncertain significance 9:35066797-35066797 9:35066800-35066800
29 VCP NM_007126.5(VCP): c.340A> G (p.Ile114Val) single nucleotide variant Uncertain significance 9:35066777-35066777 9:35066780-35066780
30 VCP NM_007126.5(VCP): c.2266G> A (p.Glu756Lys) single nucleotide variant Uncertain significance 9:35057422-35057422 9:35057425-35057425
31 VCP NM_007126.5(VCP): c.2014T> G (p.Leu672Val) single nucleotide variant Uncertain significance 9:35059207-35059207 9:35059210-35059210
32 VCP NM_007126.5(VCP): c.1180G> A (p.Val394Met) single nucleotide variant Uncertain significance 9:35061588-35061588 9:35061591-35061591
33 VCP NM_007126.5(VCP): c.512G> T (p.Ser171Ile) single nucleotide variant Uncertain significance 9:35065312-35065312 9:35065315-35065315
34 VCP NM_007126.5(VCP): c.84T> A (p.Val28=) single nucleotide variant Uncertain significance 9:35068293-35068293 9:35068296-35068296
35 VCP NM_007126.5(VCP): c.1017A> G (p.Ala339=) single nucleotide variant Likely benign rs565534943 9:35062064-35062064 9:35062067-35062067
36 VCP NM_007126.5(VCP): c.213C> T (p.Val71=) single nucleotide variant Likely benign rs1195805928 9:35067977-35067977 9:35067980-35067980
37 VCP NM_007126.5(VCP): c.552C> T (p.Cys184=) single nucleotide variant Likely benign rs769455914 9:35065272-35065272 9:35065275-35065275
38 VCP NM_007126.5(VCP): c.2161-6C> T single nucleotide variant Likely benign rs199513619 9:35057533-35057533 9:35057536-35057536
39 VCP NM_007126.5(VCP): c.1950G> A (p.Glu650=) single nucleotide variant Likely benign rs752382520 9:35059544-35059544 9:35059547-35059547
40 VCP NM_007126.5(VCP): c.2316-4A> G single nucleotide variant Likely benign rs755625059 9:35057223-35057223 9:35057226-35057226
41 VCP NM_007126.5(VCP): c.1329C> T (p.Asn443=) single nucleotide variant Likely benign rs748816624 9:35061042-35061042 9:35061045-35061045
42 VCP NM_007126.5(VCP): c.1202A> G (p.Asn401Ser) single nucleotide variant Likely benign rs148329626 9:35061169-35061169 9:35061172-35061172
43 VCP NM_007126.5(VCP): c.2412G> A (p.Leu804=) single nucleotide variant Likely benign rs757712897 9:35057123-35057123 9:35057126-35057126
44 VCP NM_007126.5(VCP): c.576+10C> G single nucleotide variant Likely benign rs757728490 9:35065238-35065238 9:35065241-35065241
45 VCP NM_007126.5(VCP): c.1696-7C> T single nucleotide variant Likely benign rs1554668202 9:35059805-35059805 9:35059808-35059808
46 VCP NM_007126.5(VCP): c.1875G> T (p.Arg625=) single nucleotide variant Benign/Likely benign rs201410035 9:35059619-35059619 9:35059622-35059622
47 VCP NM_007126.5(VCP): c.1704A> G (p.Gln568=) single nucleotide variant Benign/Likely benign rs142577424 9:35059790-35059790 9:35059793-35059793
48 VCP NM_007126.5(VCP): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs374391034 9:35057474-35057474 9:35057477-35057477
49 VCP NM_007126.5(VCP): c.18-5T> C single nucleotide variant Benign/Likely benign rs114256093 9:35068364-35068364 9:35068367-35068367
50 VCP NM_007126.5(VCP): c.1092C> T (p.Asp364=) single nucleotide variant Benign/Likely benign rs61752947 9:35061676-35061676 9:35061679-35061679

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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73 UMLS via Orphanet
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