Traits

Traits linked to TTR

transthyretin

The Human Phenotype Ontology links 79 traits to TTR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Peripheral nerve disease	Very often (80–99%)
Abnormal autonomic nervous system physiology	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Ataxia	Often (30–79%)
Confusion	Often (30–79%)
Constrictive median neuropathy	Often (30–79%)
Increased reflexes	Often (30–79%)
Anxiety	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Hallucinations of sound	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Limb ataxia	Sometimes (5–29%)
Positive Romberg sign	Sometimes (5–29%)
Peripheral neuropathy	Rarely (1–4%)
Decreased reflex response	Not recorded
Dementia	Not recorded
Difficulty articulating speech	Not recorded
Epilepsy	Not recorded
Headache	Not recorded
Leg paralysis	Not recorded
Leptomeningeal enhancement	Not recorded
Peripheral axonal neuropathy	Not recorded
Tremor	Not recorded
Weakness of one side of body	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal EKG	Very often (80–99%)
Atrial arrhythmia	Very often (80–99%)
Increased circulating troponin T concentration	Very often (80–99%)
Abnormal atrioventricular conduction	Often (30–79%)
Abnormal heart rate	Often (30–79%)
Disease of the heart muscle	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Enlarged heart	Often (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Often (30–79%)
Reduced left ventricular ejection fraction	Often (30–79%)
Restrictive cardiomyopathy	Often (30–79%)
Angina pectoris	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Narrowing of aortic valve	Rarely (1–4%)
Orthostatic hypotension due to autonomic dysfunction	Not recorded
Stroke-like episode	Not recorded

Abnormality of the eye

Trait	How often it is seen
Eye floaters	Often (30–79%)
Double vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Horizontal nystagmus	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)
Vertical nystagmus	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Visual impairment	Not recorded

Laboratory abnormality

Trait	How often it is seen
Amyloid deposition	Always
Increased CSF protein concentration	Always
Cardiac amyloidosis	Very often (80–99%)
Elevated circulating NT-proBNP concentration	Very often (80–99%)
Excess fluid in lungs	Sometimes (5–29%)
Amyloid deposition in the vitreous humor	Not recorded
Reduced vitamin b6 levels	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Narrow spinal canal	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Tendon rupture	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Muscle weakness	Not recorded
Trigger finger	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Diarrhea	Often (30–79%)
Episodic vomiting	Often (30–79%)
Abnormal enteric nervous system morphology	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Very often (80–99%)
Abnormal kidney function	Often (30–79%)
Difficulty getting a full erection	Often (30–79%)
Loss of bladder control	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Thromboembolism	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Facial tics	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Euthyroid hyperthyroxinemia	Not recorded

Growth abnormality

Trait	How often it is seen
Weight loss	Often (30–79%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TTR and how often each is seen. Find out more at hpo.jax.org.

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