Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 (IBMPFD2)

Alias:
Multisystem Proteinopathy 2
Ibmpfd2
Msp2
Myopathy, Inclusion Body, with Early-Onset Paget Disease with/without Frontotemporal Dementia, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2, also known as multisystem proteinopathy 2, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 and malaria. An important gene associated with Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 is HNRNPA2B1 (Heterogeneous Nuclear Ribonucleoprotein A2/B1). Affiliated tissues include bone and skeletal muscle, and related phenotypes are myopathy and rimmed vacuoles
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
5
6

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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