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IBMPFD1
MCID: INC029
MIFTS: 28
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Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 (IBMPFD1)
Categories:
Bone diseases, Genetic diseases, Mental 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
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: |
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OMIM
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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 paget disease of bone and frontotemporal dementia and inclusion body myopathy with early-onset paget disease 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 with or Without Frontotemporal Dementia 1 is VCP (Valosin Containing Protein). Affiliated tissues include bone and lung, 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. |
Diseases in the Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 family:
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:
Graphical network of the top 20 diseases related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:167320Human phenotypes related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:32 (show all 27)
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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MalaCards organs/tissues related to Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:41
Bone,
Lung
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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
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UniProtKB/Swiss-Prot genetic disease variations for Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1:75
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 88)
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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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