Details of Disease

General Information of Disease (ID: DIS6Z6TF)

• Disease Name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
• Synonyms: FTLD-TDP, GRN-related; frontotemporal lobar degeneration with TDP43 inclusions, GRN-related; aphasia, primary progressive; frontotemporal lobar degeneration with ubiquitin-positive inclusions; frontotemporal dementia, ubiquitin-positive; frontotemporal dementia with TDP43 inclusions, GRN-related; dementia, hereditary dysphasic disinhibition
• 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.
• Disease Hierarchy:
  DISLRYFE: Primary progressive aphasia
  DISKYHXL: Frontotemporal dementia
  DIS6Z6TF: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
• Disease Identifiers:
  MONDO ID: MONDO_0011842
  UMLS CUI: C1843792
  OMIM ID: 607485
  MedGen ID: 375285

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TARDBP	TT9RZ03	Limited	Biomarker	[1]
GRN	TT0LWE3	moderate	Biomarker	[2]
VCP	TTHNLSB	moderate	Genetic Variation	[3]
GRN	TT4LM0E	Strong	Autosomal dominant	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRN	OTXXSJ53	Strong	Autosomal dominant	[4]
TAF15	OTNE038N	Strong	Biomarker	[5]

References

• [1] The RNA-Recognition Motifs of TAR DNA-Binding Protein 43 May Play a Role in the Aberrant Self-Assembly of the Protein.Front Mol Neurosci. 2018 Oct 9;11:372. doi: 10.3389/fnmol.2018.00372. eCollection 2018.
• [2] Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay.Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):E2849-E2858. doi: 10.1073/pnas.1722344115. Epub 2018 Mar 6.
• [3] Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy.Acta Neuropathol. 2007 Jul;114(1):55-61. doi: 10.1007/s00401-007-0224-7. Epub 2007 Apr 25.
• [4] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [5] The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.Brain Res. 2012 Jun 26;1462:61-80. doi: 10.1016/j.brainres.2012.01.016. Epub 2012 Jan 21.