GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Findings
No curated finding names GRN-related frontotemporal lobar degeneration with Tdp43 inclusions yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011842), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating progranulin concentrationHPOHP:6001187
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GRNHGNC:4601
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- Narrower terms (1)