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Kenmerken

Kenmerken gekoppeld aan PRRT2

proline rich transmembrane protein 2

De Human Phenotype Ontology koppelt 126 kenmerken aan PRRT2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Paroxysmal dystoniaAltijd
Abnormal speech patternHeel vaak (80–99%)
ChoreaHeel vaak (80–99%)
ChoreoathetosisHeel vaak (80–99%)
Disorder of involuntary muscle movementsHeel vaak (80–99%)
DystoniaHeel vaak (80–99%)
EEG abnormalityHeel vaak (80–99%)
Focal motor seizureHeel vaak (80–99%)
Focal sensory seizureHeel vaak (80–99%)
Generalized-onset seizureHeel vaak (80–99%)
Involuntary movementsHeel vaak (80–99%)
Involuntary writhing movements in fingers, hands, toes, and feetHeel vaak (80–99%)
Migraine with auraHeel vaak (80–99%)
Neonatal seizureHeel vaak (80–99%)
Normal interictal EEGHeel vaak (80–99%)
Paroxysmal dyskinesiaHeel vaak (80–99%)
Balance impairmentVaak (30–79%)
Bilateral tonic-clonic seizure with focal onsetVaak (30–79%)
Brief seizures with staring spellsVaak (30–79%)
Complex febrile seizureVaak (30–79%)
ConfusionVaak (30–79%)
CSF lymphocytic pleiocytosisVaak (30–79%)
CSF pleocytosisVaak (30–79%)
Difficulty articulating speechVaak (30–79%)
Dissociated sensory lossVaak (30–79%)
EpilepsyVaak (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)Vaak (30–79%)
Focal clonic seizureVaak (30–79%)
Focal impaired awareness autonomic seizureVaak (30–79%)
Focal impaired awareness seizureVaak (30–79%)
Focal manual automatism seizureVaak (30–79%)
Focal pedal automatism seizureVaak (30–79%)
Focal tonic seizureVaak (30–79%)
Generalized clonic seizureVaak (30–79%)
Generalized tonic seizureVaak (30–79%)
Grand mal seizuresVaak (30–79%)
Hyperactive deep tendon reflexesVaak (30–79%)
Hyperactive movementsVaak (30–79%)
Intellectual disabilityVaak (30–79%)
Paroxysmal choreoathetosisVaak (30–79%)
Pins and needles feelingVaak (30–79%)
Progressive gait ataxiaVaak (30–79%)
Seizure affecting one half of brainVaak (30–79%)
Torsion dystoniaVaak (30–79%)
Weakness of one side of bodyVaak (30–79%)
Aggressive behaviorSoms (5–29%)
Alien limb phenomenonSoms (5–29%)
AtaxiaSoms (5–29%)
Atypical absence status epilepticusSoms (5–29%)
Cognitive impairmentSoms (5–29%)
ComaSoms (5–29%)
Cortical dysplasiaSoms (5–29%)
Decreased vigilanceSoms (5–29%)
Degeneration of cerebellumSoms (5–29%)
Difficulty finding wordsSoms (5–29%)
EEG with generalized sharp slow wavesSoms (5–29%)
EEG with spike-wave complexesSoms (5–29%)
Experiential epileptic auraSoms (5–29%)
Eyelid myoclonia seizureSoms (5–29%)
Focal head nodding automatism seizureSoms (5–29%)
Generalized cerebral degeneration/underdevelopmentSoms (5–29%)
Generalized myoclonic seizureSoms (5–29%)
Impaired temperature sensationSoms (5–29%)
IncoordinationSoms (5–29%)
Infantile spasmsSoms (5–29%)
IrritabilitySoms (5–29%)
Language impairmentSoms (5–29%)
Limb myoclonusSoms (5–29%)
Loss of developmental milestonesSoms (5–29%)
MigraineSoms (5–29%)
Neonatal electro-clinical seizure with behavior arrestSoms (5–29%)
Paralysis on one side of bodySoms (5–29%)
Poor fine motor coordinationSoms (5–29%)
Specific learning disabilitySoms (5–29%)
Spontaneous pain sensationSoms (5–29%)
Sudden loss of muscle toneSoms (5–29%)
Writer's crampSoms (5–29%)
AnxietyZelden (1–4%)
Autism spectrum disorderZelden (1–4%)
EEG with focal sharp wavesZelden (1–4%)
Intellectual disability, mildZelden (1–4%)
Interictal epileptiform activityZelden (1–4%)
Obsessive-compulsive traitZelden (1–4%)
Repeated seizures without recovery between themZelden (1–4%)
Simple febrile seizureZelden (1–4%)
Slow movementsZelden (1–4%)
TremorZelden (1–4%)
Brain imaging abnormalityNiet vastgelegd
Orofacial dyskinesiaNiet vastgelegd
Psychomotor deteriorationNiet vastgelegd

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Blind spotVaak (30–79%)
Double visionVaak (30–79%)
MetamorphopsiaVaak (30–79%)
PhotopsiaVaak (30–79%)
Gaze-evoked horizontal nystagmusSoms (5–29%)
Seesaw nystagmusSoms (5–29%)
Staring gazeSoms (5–29%)
Vertical nystagmusSoms (5–29%)
Amaurosis fugaxZelden (1–4%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Muscle weaknessHeel vaak (80–99%)
Generalized muscle weaknessSoms (5–29%)
Joint stiffnessSoms (5–29%)
Low muscle toneSoms (5–29%)
RigiditySoms (5–29%)
Spasticity and rigidity of musclesSoms (5–29%)
First dorsal interossei muscle weaknessZelden (1–4%)
Lower limb spasticityZelden (1–4%)

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Facial ticsVaak (30–79%)
Tongue twitchingVaak (30–79%)
Decrease in jaw mobilitySoms (5–29%)
Facial paralysisSoms (5–29%)
Nuchal rigiditySoms (5–29%)
Wry neckSoms (5–29%)

Abnormality of limbs

KenmerkHoe vaak het voorkomt
Distal upper limb muscle weaknessSoms (5–29%)
Dropped archesZelden (1–4%)
Limited knee straighteningZelden (1–4%)
Talipes valgusZelden (1–4%)
Tibial torsionZelden (1–4%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
DizzinessVaak (30–79%)
Hearing impairmentVaak (30–79%)
Ringing in earsSoms (5–29%)

Abnormality of the respiratory system

KenmerkHoe vaak het voorkomt
ApneaVaak (30–79%)
Breathing difficultySoms (5–29%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
Brain swellingVaak (30–79%)
Increased CSF protein concentrationVaak (30–79%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Blue discoloration of the skinSoms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

  • De Human Phenotype Ontology, versie 2026-09-01: de aan PRRT2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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