inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

Summary
Synonym
  • IBMPFD1
  • MSP1
  • multisystem proteinopathy 1
Definition
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3.
Super Class
autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia
External Links
Disease Ontology
DOID:0111385
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5648 MASP1 MBL associated serine protease 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48740 Mannan-binding lectin serine protease 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024