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	Hvor ofte den forekommer
Peripheral nerve disease	Svært ofte (80–99 %)
Abnormal autonomic nervous system physiology	Ofte (30–79 %)
Abnormal pyramidal sign	Ofte (30–79 %)
Ataxia	Ofte (30–79 %)
Confusion	Ofte (30–79 %)
Constrictive median neuropathy	Ofte (30–79 %)
Increased reflexes	Ofte (30–79 %)
Anxiety	Noen ganger (5–29 %)
Hallucinations	Noen ganger (5–29 %)
Hallucinations of sound	Noen ganger (5–29 %)
Instability or lack of coordination of central trunk muscles	Noen ganger (5–29 %)
Intention tremor	Noen ganger (5–29 %)
Limb ataxia	Noen ganger (5–29 %)
Positive Romberg sign	Noen ganger (5–29 %)
Peripheral neuropathy	Sjelden (1–4%)
Decreased reflex response	Ikke registrert
Dementia	Ikke registrert
Difficulty articulating speech	Ikke registrert
Epilepsy	Ikke registrert
Headache	Ikke registrert
Leg paralysis	Ikke registrert
Leptomeningeal enhancement	Ikke registrert
Peripheral axonal neuropathy	Ikke registrert
Tremor	Ikke registrert
Weakness of one side of body	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal EKG	Svært ofte (80–99 %)
Atrial arrhythmia	Svært ofte (80–99 %)
Increased circulating troponin T concentration	Svært ofte (80–99 %)
Abnormal atrioventricular conduction	Ofte (30–79 %)
Abnormal heart rate	Ofte (30–79 %)
Disease of the heart muscle	Ofte (30–79 %)
Enlarged and thickened heart muscle	Ofte (30–79 %)
Enlarged heart	Ofte (30–79 %)
Interruption of electrical communication between upper and lower chambers of heart	Ofte (30–79 %)
Reduced left ventricular ejection fraction	Ofte (30–79 %)
Restrictive cardiomyopathy	Ofte (30–79 %)
Angina pectoris	Noen ganger (5–29 %)
Cardiac failure	Noen ganger (5–29 %)
Left ventricular hypertrophy	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)
Narrowing of aortic valve	Sjelden (1–4%)
Orthostatic hypotension due to autonomic dysfunction	Ikke registrert
Stroke-like episode	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Eye floaters	Ofte (30–79 %)
Double vision	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Horizontal nystagmus	Noen ganger (5–29 %)
Severe near sightedness	Noen ganger (5–29 %)
Vertical nystagmus	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ikke registrert
Visual impairment	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Amyloid deposition	Alltid
Increased CSF protein concentration	Alltid
Cardiac amyloidosis	Svært ofte (80–99 %)
Elevated circulating NT-proBNP concentration	Svært ofte (80–99 %)
Excess fluid in lungs	Noen ganger (5–29 %)
Amyloid deposition in the vitreous humor	Ikke registrert
Reduced vitamin b6 levels	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Narrow spinal canal	Noen ganger (5–29 %)
Spastic paraparesis	Noen ganger (5–29 %)
Tendon rupture	Noen ganger (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Ikke registrert
Muscle weakness	Ikke registrert
Trigger finger	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Constipation	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Episodic vomiting	Ofte (30–79 %)
Abnormal enteric nervous system morphology	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Kidney damage	Svært ofte (80–99 %)
Abnormal kidney function	Ofte (30–79 %)
Difficulty getting a full erection	Ofte (30–79 %)
Loss of bladder control	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)
Thromboembolism	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Sensorineural hearing impairment	Ofte (30–79 %)
Hearing impairment	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Facial tics	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Euthyroid hyperthyroxinemia	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Weight loss	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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