Tunnused

Geeniga CNTNAP2 seotud tunnused

contactin associated protein 2

Inimese fenotüübi ontoloogia seostab geeniga CNTNAP2 112 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Focal impaired awareness seizure	Alati
Grand mal seizures	Alati
Intellectual disability	Alati
Receptive language delay	Alati
Schizophrenia	Alati
Seizure affecting one half of brain	Alati
Abnormal neuron shape	Väga sageli (80–99%)
Abnormality of neuronal migration	Väga sageli (80–99%)
Attention deficit	Väga sageli (80–99%)
Delayed ability to walk	Väga sageli (80–99%)
Delayed motor skills	Väga sageli (80–99%)
Delayed speech and language development	Väga sageli (80–99%)
EEG abnormality	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Aggressive behavior	Sageli (30–79%)
Ataxia	Sageli (30–79%)
Autism spectrum disorder	Sageli (30–79%)
Bilateral tonic-clonic seizure with focal onset	Sageli (30–79%)
Cerebellar vermis hypoplasia	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
EEG with generalized epileptiform discharges	Sageli (30–79%)
EEG with generalized polyspikes	Sageli (30–79%)
EEG with generalized slow activity	Sageli (30–79%)
Focal aware seizure	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
Interictal epileptiform activity	Sageli (30–79%)
Mental deterioration	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Poor eye contact	Sageli (30–79%)
Poor speech	Sageli (30–79%)
Progressive language deterioration	Sageli (30–79%)
Repeated seizures without recovery between them	Sageli (30–79%)
Repetitive movements	Sageli (30–79%)
Small cerebellum	Sageli (30–79%)
Abnormal temper tantrums	Mõnikord (5–29%)
Absent reflexes	Mõnikord (5–29%)
Absent speech development	Mõnikord (5–29%)
Autism	Mõnikord (5–29%)
Behavioral abnormality	Mõnikord (5–29%)
Cerebellar vermis atrophy	Mõnikord (5–29%)
Cerebral palsy	Mõnikord (5–29%)
Degeneration of cerebrum	Mõnikord (5–29%)
EEG with focal spikes	Mõnikord (5–29%)
Focal cortical dysplasia	Mõnikord (5–29%)
Focal impaired awareness emotional seizure with fear/anxiety/panic	Mõnikord (5–29%)
Generalized convulsive status epilepticus	Mõnikord (5–29%)
Infantile spasms	Mõnikord (5–29%)
IQ between 34 and 49	Mõnikord (5–29%)
Low frustration tolerance	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Periventricular leukomalacia	Mõnikord (5–29%)
Reduced cerebral white matter volume	Mõnikord (5–29%)
Self-mutilation	Mõnikord (5–29%)
Skin-picking	Mõnikord (5–29%)
Stereotypical hand wringing	Mõnikord (5–29%)
Sudden loss of muscle tone	Mõnikord (5–29%)
Thin corpus callosum	Mõnikord (5–29%)
Tonic seizure	Mõnikord (5–29%)
Thick corpus callosum	Harva (1–4%)
Diminished deep tendon reflex	Pole registreeritud
Generalized-onset seizure	Pole registreeritud
Language impairment	Pole registreeritud
Poor social interactions	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big calvaria	Alati
Abnormally small head	Sageli (30–79%)
Full lips	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Mõnikord (5–29%)
Frontal bossing	Mõnikord (5–29%)
Narrow forehead	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)
Smooth philtrum	Mõnikord (5–29%)
Sparse eyebrow	Mõnikord (5–29%)
Wide mouth	Mõnikord (5–29%)
Big lower jaw	Harva (1–4%)
Broad forehead	Harva (1–4%)
Bulbous nose	Harva (1–4%)
Coarse facial features	Harva (1–4%)
Decreased size of tooth	Harva (1–4%)
Eye folds	Harva (1–4%)
High palate	Harva (1–4%)
Long eyelashes	Harva (1–4%)
Low frontal hairline	Harva (1–4%)
Low hanging columella	Harva (1–4%)
Monobrow	Harva (1–4%)
Prominent forehead	Harva (1–4%)
Protruding tongue	Harva (1–4%)
Short columella	Harva (1–4%)
Short philtrum	Harva (1–4%)
Tented mouth	Harva (1–4%)
Thin red part of the upper lip	Harva (1–4%)
Upward slanting of the opening between the eyelids	Harva (1–4%)
Widely spaced teeth	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Lower limb spasticity	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Sageli (30–79%)
Enlarged liver	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Alati
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
High-arched foot	Mõnikord (5–29%)
Preaxial polydactyly	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large earlobe	Harva (1–4%)
Large ears	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Intermittent overbreathing	Mõnikord (5–29%)
Rapid breathing	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Intraventricular hemorrhage	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Obesity	Alati

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 CNTNAP2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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