Trăsături

Trăsături asociate cu PRRT2

proline rich transmembrane protein 2

Human Phenotype Ontology asociază 126 trăsături cu PRRT2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blind spot	Des (30–79%)
Double vision	Des (30–79%)
Metamorphopsia	Des (30–79%)
Photopsia	Des (30–79%)
Gaze-evoked horizontal nystagmus	Uneori (5–29%)
Seesaw nystagmus	Uneori (5–29%)
Staring gaze	Uneori (5–29%)
Vertical nystagmus	Uneori (5–29%)
Amaurosis fugax	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscle weakness	Foarte des (80–99%)
Generalized muscle weakness	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
First dorsal interossei muscle weakness	Rar (1–4%)
Lower limb spasticity	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Facial tics	Des (30–79%)
Tongue twitching	Des (30–79%)
Decrease in jaw mobility	Uneori (5–29%)
Facial paralysis	Uneori (5–29%)
Nuchal rigidity	Uneori (5–29%)
Wry neck	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Distal upper limb muscle weakness	Uneori (5–29%)
Dropped arches	Rar (1–4%)
Limited knee straightening	Rar (1–4%)
Talipes valgus	Rar (1–4%)
Tibial torsion	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)
Hearing impairment	Des (30–79%)
Ringing in ears	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Apnea	Des (30–79%)
Breathing difficulty	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Brain swelling	Des (30–79%)
Increased CSF protein concentration	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Blue discoloration of the skin	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PRRT2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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