Tunnused

Geeniga PRRT2 seotud tunnused

proline rich transmembrane protein 2

Inimese fenotüübi ontoloogia seostab geeniga PRRT2 126 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blind spot	Sageli (30–79%)
Double vision	Sageli (30–79%)
Metamorphopsia	Sageli (30–79%)
Photopsia	Sageli (30–79%)
Gaze-evoked horizontal nystagmus	Mõnikord (5–29%)
Seesaw nystagmus	Mõnikord (5–29%)
Staring gaze	Mõnikord (5–29%)
Vertical nystagmus	Mõnikord (5–29%)
Amaurosis fugax	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Muscle weakness	Väga sageli (80–99%)
Generalized muscle weakness	Mõnikord (5–29%)
Joint stiffness	Mõnikord (5–29%)
Low muscle tone	Mõnikord (5–29%)
Rigidity	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
First dorsal interossei muscle weakness	Harva (1–4%)
Lower limb spasticity	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Facial tics	Sageli (30–79%)
Tongue twitching	Sageli (30–79%)
Decrease in jaw mobility	Mõnikord (5–29%)
Facial paralysis	Mõnikord (5–29%)
Nuchal rigidity	Mõnikord (5–29%)
Wry neck	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Distal upper limb muscle weakness	Mõnikord (5–29%)
Dropped arches	Harva (1–4%)
Limited knee straightening	Harva (1–4%)
Talipes valgus	Harva (1–4%)
Tibial torsion	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Ringing in ears	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Sageli (30–79%)
Breathing difficulty	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Brain swelling	Sageli (30–79%)
Increased CSF protein concentration	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Blue discoloration of the skin	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga PRRT2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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