Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Summary
Definition
A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
Super Class
autosomal dominant disease frontotemporal dementia
External Links
Disease Ontology
DOID:0060672
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 30 in total
Gene ID Gene Symbol Description Source
8803 SUCLA2 succinate-CoA ligase ADP-forming subunit beta
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10747 MASP2 MBL associated serine protease 2
23098 SARM1 sterile alpha and TIR motif containing 1
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
26035 GLCE glucuronic acid epimerase
27036 SIGLEC7 sialic acid binding Ig like lectin 7
54732 TMED9 transmembrane p24 trafficking protein 9
84750 FUT10 fucosyltransferase 10
Related Glycoprotein

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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