Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia

Alias:
Ibmpfd
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia
Limb-Girdle Muscular Dystrophy with Paget Disease of Bone
Pagetoid Amyotrophic Lateral Sclerosis
Pagetoid Neuroskeletal Syndrome
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Inclusion Body Myopathy with Paget's Disease of Bone and Frontotemporal Dementia
Multisystem Proteinopathy
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia, also known as ibmpfd, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 and inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2, and has symptoms including back pain and hip pain. An important gene associated with Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia is VCP (Valosin Containing Protein), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and Maturation of protein E. Affiliated tissues include bone and skeletal muscle, and related phenotypes are hyperlordosis and elevated circulating creatine kinase concentration
Related ID:
MESH:C563476

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
42
388
87

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top