Trait

Frontotemporal dementia

A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.

HPO HP:0002145

Body system: Abnormality of the nervous system

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44 genes linked to Frontotemporal dementia

Changes in these genes cause rare conditions in which Frontotemporal dementia 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
CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10	Always	In 3 conditions
CHMP2Bcharged multivesicular body protein 2B	Very often (80–99%)	In 4 conditions
FUSFUS RNA binding protein	Very often (80–99%)	In 2 conditions
GRNgranulin precursor	Very often (80–99%)	In 3 conditions
MAPTmicrotubule associated protein tau	Very often (80–99%)	In 4 conditions
PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta	Very often (80–99%)	In 1 condition
PSEN1presenilin 1	Very often (80–99%)	In 4 conditions
SQSTM1sequestosome 1	Very often (80–99%)	In 4 conditions
TARDBPTAR DNA binding protein	Very often (80–99%)	In 3 conditions
TBK1TANK binding kinase 1	Very often (80–99%)	In 3 conditions
TMEM106Btransmembrane protein 106B	Very often (80–99%)	In 2 conditions
TREM2triggering receptor expressed on myeloid cells 2	Very often (80–99%)	In 3 conditions
VCPvalosin containing protein	Very often (80–99%)	In 6 conditions
HNRNPA1heterogeneous nuclear ribonucleoprotein A1	Often (30–79%)	In 2 conditions
HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1	Often (30–79%)	In 2 conditions
PLA2G6phospholipase A2 group VI	Often (30–79%)	In 2 conditions
TIA1TIA1 cytotoxic granule associated RNA binding protein	Often (30–79%)	In 1 condition
ANGangiogenin	Sometimes (5–29%)	In 1 condition
ANXA11annexin A11	Sometimes (5–29%)	In 1 condition
ATXN2ataxin 2	Sometimes (5–29%)	In 1 condition
CCNFcyclin F	Sometimes (5–29%)	In 2 conditions
CFAP410cilia and flagella associated protein 410	Sometimes (5–29%)	In 1 condition
DAOD-amino acid oxidase	Sometimes (5–29%)	In 1 condition
DCTN1dynactin subunit 1	Sometimes (5–29%)	In 2 conditions
ERBB4erb-b2 receptor tyrosine kinase 4	Sometimes (5–29%)	In 1 condition
FIG4FIG4 phosphoinositide 5-phosphatase	Sometimes (5–29%)	In 1 condition
GLE1GLE1 RNA export mediator	Sometimes (5–29%)	In 1 condition
GLT8D1glycosyltransferase 8 domain containing 1	Sometimes (5–29%)	In 1 condition
LRP12LDL receptor related protein 12	Sometimes (5–29%)	In 1 condition
MATR3matrin 3	Sometimes (5–29%)	In 1 condition
NEFHneurofilament heavy chain	Sometimes (5–29%)	In 1 condition
NEK1NIMA related kinase 1	Sometimes (5–29%)	In 1 condition
OPTNoptineurin	Sometimes (5–29%)	In 1 condition
PFN1profilin 1	Sometimes (5–29%)	In 1 condition
PRPHperipherin	Sometimes (5–29%)	In 1 condition
SOD1superoxide dismutase 1	Sometimes (5–29%)	In 1 condition
TAF15TATA-box binding protein associated factor 15	Sometimes (5–29%)	In 1 condition
TUBA4Atubulin alpha 4a	Sometimes (5–29%)	In 1 condition
UBQLN2ubiquilin 2	Sometimes (5–29%)	In 2 conditions
UNC13Aunc-13 homolog A	Sometimes (5–29%)	In 1 condition

Show 4 more genes

Gene	How often it is seen	Conditions
VAPBVAMP associated protein B and C	Sometimes (5–29%)	In 1 condition
ZFYVE26zinc finger FYVE-type containing 26	Sometimes (5–29%)	In 1 condition
C9orf72C9orf72-SMCR8 complex subunit	Not recorded	In 1 condition
CYLDCYLD lysine 63 deubiquitinase	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.

Narrower traits

Trouble remembering words6 genes

Broader traits

Dementia

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 2026.10.17-8666dff2.

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