Rare diseases · Sign or symptom
Neurofibrillary tangles
HP:0002185
What it means
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Rare diseases that can present with this3
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Neurofibrillary tangles composed of disordered microtubules in neurons · NFTs · Paired helical filaments · Tau-positive neurofibrillary tangles · Tau-positive tangle
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.