Požymiai

Su PRRT2 susiję požymiai

proline rich transmembrane protein 2

Žmogaus fenotipo ontologija sieja 126 požymių su PRRT2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Paroxysmal dystonia	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Chorea	Labai dažnai (80–99%)
Choreoathetosis	Labai dažnai (80–99%)
Disorder of involuntary muscle movements	Labai dažnai (80–99%)
Dystonia	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Focal sensory seizure	Labai dažnai (80–99%)
Generalized-onset seizure	Labai dažnai (80–99%)
Involuntary movements	Labai dažnai (80–99%)
Involuntary writhing movements in fingers, hands, toes, and feet	Labai dažnai (80–99%)
Migraine with aura	Labai dažnai (80–99%)
Neonatal seizure	Labai dažnai (80–99%)
Normal interictal EEG	Labai dažnai (80–99%)
Paroxysmal dyskinesia	Labai dažnai (80–99%)
Balance impairment	Dažnai (30–79%)
Bilateral tonic-clonic seizure with focal onset	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Complex febrile seizure	Dažnai (30–79%)
Confusion	Dažnai (30–79%)
CSF lymphocytic pleiocytosis	Dažnai (30–79%)
CSF pleocytosis	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
Dissociated sensory loss	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Dažnai (30–79%)
Focal clonic seizure	Dažnai (30–79%)
Focal impaired awareness autonomic seizure	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Focal manual automatism seizure	Dažnai (30–79%)
Focal pedal automatism seizure	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Generalized clonic seizure	Dažnai (30–79%)
Generalized tonic seizure	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Hyperactive deep tendon reflexes	Dažnai (30–79%)
Hyperactive movements	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Paroxysmal choreoathetosis	Dažnai (30–79%)
Pins and needles feeling	Dažnai (30–79%)
Progressive gait ataxia	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Torsion dystonia	Dažnai (30–79%)
Weakness of one side of body	Dažnai (30–79%)
Aggressive behavior	Kartais (5–29%)
Alien limb phenomenon	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Atypical absence status epilepticus	Kartais (5–29%)
Cognitive impairment	Kartais (5–29%)
Coma	Kartais (5–29%)
Cortical dysplasia	Kartais (5–29%)
Decreased vigilance	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Difficulty finding words	Kartais (5–29%)
EEG with generalized sharp slow waves	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Experiential epileptic aura	Kartais (5–29%)
Eyelid myoclonia seizure	Kartais (5–29%)
Focal head nodding automatism seizure	Kartais (5–29%)
Generalized cerebral degeneration/underdevelopment	Kartais (5–29%)
Generalized myoclonic seizure	Kartais (5–29%)
Impaired temperature sensation	Kartais (5–29%)
Incoordination	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Irritability	Kartais (5–29%)
Language impairment	Kartais (5–29%)
Limb myoclonus	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Migraine	Kartais (5–29%)
Neonatal electro-clinical seizure with behavior arrest	Kartais (5–29%)
Paralysis on one side of body	Kartais (5–29%)
Poor fine motor coordination	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Spontaneous pain sensation	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Writer's cramp	Kartais (5–29%)
Anxiety	Retai (1–4 %)
Autism spectrum disorder	Retai (1–4 %)
EEG with focal sharp waves	Retai (1–4 %)
Intellectual disability, mild	Retai (1–4 %)
Interictal epileptiform activity	Retai (1–4 %)
Obsessive-compulsive trait	Retai (1–4 %)
Repeated seizures without recovery between them	Retai (1–4 %)
Simple febrile seizure	Retai (1–4 %)
Slow movements	Retai (1–4 %)
Tremor	Retai (1–4 %)
Brain imaging abnormality	Neužfiksuota
Orofacial dyskinesia	Neužfiksuota
Psychomotor deterioration	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Blind spot	Dažnai (30–79%)
Double vision	Dažnai (30–79%)
Metamorphopsia	Dažnai (30–79%)
Photopsia	Dažnai (30–79%)
Gaze-evoked horizontal nystagmus	Kartais (5–29%)
Seesaw nystagmus	Kartais (5–29%)
Staring gaze	Kartais (5–29%)
Vertical nystagmus	Kartais (5–29%)
Amaurosis fugax	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Muscle weakness	Labai dažnai (80–99%)
Generalized muscle weakness	Kartais (5–29%)
Joint stiffness	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Spasticity and rigidity of muscles	Kartais (5–29%)
First dorsal interossei muscle weakness	Retai (1–4 %)
Lower limb spasticity	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Facial tics	Dažnai (30–79%)
Tongue twitching	Dažnai (30–79%)
Decrease in jaw mobility	Kartais (5–29%)
Facial paralysis	Kartais (5–29%)
Nuchal rigidity	Kartais (5–29%)
Wry neck	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Distal upper limb muscle weakness	Kartais (5–29%)
Dropped arches	Retai (1–4 %)
Limited knee straightening	Retai (1–4 %)
Talipes valgus	Retai (1–4 %)
Tibial torsion	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Ringing in ears	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Dažnai (30–79%)
Breathing difficulty	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Brain swelling	Dažnai (30–79%)
Increased CSF protein concentration	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Blue discoloration of the skin	Kartais (5–29%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su PRRT2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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