Trait
Neurofibrillary tangles
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Summary
- Also called
- Neurofibrillary tangles composed of disordered microtubules in neurons, NFTs, Paired helical filaments, Tau-positive neurofibrillary tangles, Tau-positive tangle
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test23 genes linked to Neurofibrillary tangles
Changes in these genes cause rare conditions in which Neurofibrillary tangles is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| APOEapolipoprotein E | Always | In 3 conditions |
| MAPTmicrotubule associated protein tau | Always | In 2 conditions |
| RAB32RAB32, member RAS oncogene family | Always | In 1 condition |
| VPS13Cvacuolar protein sorting 13 homolog C | Always | In 1 condition |
| APPamyloid beta precursor protein | Very often (80–99%) | In 2 conditions |
| PSEN1presenilin 1 | Very often (80–99%) | In 3 conditions |
| PSEN2presenilin 2 | Very often (80–99%) | In 2 conditions |
| SORL1sortilin related receptor 1 | Very often (80–99%) | In 1 condition |
| TOMM40translocase of outer mitochondrial membrane 40 | Very often (80–99%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Very often (80–99%) | In 3 conditions |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 2 conditions |
| ABCA7ATP binding cassette subfamily A member 7 | Not recorded | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Not recorded | In 1 condition |
| CYLDCYLD lysine 63 deubiquitinase | Not recorded | In 1 condition |
| GRNgranulin precursor | Not recorded | In 2 conditions |
| ITM2Bintegral membrane protein 2B | Not recorded | In 1 condition |
| MPOmyeloperoxidase | Not recorded | In 1 condition |
| NPC1NPC intracellular cholesterol transporter 1 | Not recorded | In 1 condition |
| NPC2NPC intracellular cholesterol transporter 2 | Not recorded | In 1 condition |
| PLAUplasminogen activator, urokinase | Not recorded | In 1 condition |
| PRNPprion protein (Kanno blood group) | Not recorded | In 1 condition |
| TMEM106Btransmembrane protein 106B | Not recorded | In 1 condition |
| VCPvalosin containing protein | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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