Traits

Traits linked to RTN2

reticulon 2

The Human Phenotype Ontology links 67 traits to RTN2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal gait	Visada
Babinski sign	Visada
Brisk reflexes	Visada
Falls	Visada
Increased reflexes	Visada
Motor delay	Visada
Overactive lower leg reflex	Visada
Positive Romberg sign	Visada
Toe walking	Visada
Degeneration of the lateral corticospinal tracts	Labai dažnai (80–99%)
Motor axonal neuropathy	Labai dažnai (80–99%)
Action tremor	Dažnai (30–79%)
Clonus	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Impaired proprioception	Dažnai (30–79%)
Impaired vibration sensation in the lower limbs	Dažnai (30–79%)
Limb ataxia	Dažnai (30–79%)
Spinal cord lesion	Dažnai (30–79%)
Degeneration of the spinal cord	Kartais (5–29%)
Delayed ability to walk	Kartais (5–29%)
Upper limb hyperreflexia	Kartais (5–29%)
Abnormal cerebrospinal fluid morphology	Neužfiksuota
Abnormal lower-limb motor evoked potentials	Neužfiksuota
Knee clonus	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Abnormal rhythmic movements of ankle	Visada
Absent ankle reflexes	Visada
Distal lower limb muscle weakness	Visada
Distal upper limb muscle weakness	Visada
Leg muscle stiffness	Visada
Lower limb hypertonia	Visada
Lower limb muscle weakness	Visada
Distal upper limb amyotrophy	Labai dažnai (80–99%)
Foot drop	Labai dažnai (80–99%)
Dropped arches	Dažnai (30–79%)
Hammertoe	Dažnai (30–79%)
High-arched foot	Dažnai (30–79%)
Proximal lower limb muscle weakness	Dažnai (30–79%)
Weakness of long finger extensor muscles	Dažnai (30–79%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Distal lower limb amyotrophy	Visada
Frequent falls	Visada
Lower limb spasticity	Visada
Scissor gait	Visada
Spastic walk	Visada
Progressive spastic paraplegia	Labai dažnai (80–99%)
Fatty replacement of skeletal muscle	Dažnai (30–79%)
Lower limb amyotrophy	Dažnai (30–79%)
Muscle spasm	Dažnai (30–79%)
Muscle degeneration	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Uncontrollable movement in upper arms	Retai (1–4 %)
EMG abnormality	Neužfiksuota
Spastic paraplegia	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Loss of bladder control	Labai dažnai (80–99%)
Dull burning sensation with urination	Dažnai (30–79%)
Female sexual dysfunction	Dažnai (30–79%)
Frequent urinary tract infections	Dažnai (30–79%)
Male sexual dysfunction	Dažnai (30–79%)
Urinary bladder sphincter dysfunction	Dažnai (30–79%)
Urinary urgency	Dažnai (30–79%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Clouding of the lens of the eye	Dažnai (30–79%)
Double vision	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Chronic constipation	Visada
Loss of bowel control	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Pneumonia	Visada

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Muscle ache	Visada

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Elevated blood creatine phosphokinase	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RTN2 and how often each is seen. Find out more at hpo.jax.org.

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