Požymiai

Su CNTNAP2 susiję požymiai

contactin associated protein 2

Žmogaus fenotipo ontologija sieja 112 požymių su CNTNAP2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Lower limb spasticity	Kartais (5–29%)
Generalized decreased muscle tone	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Constipation	Dažnai (30–79%)
Enlarged liver	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Visada
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
High-arched foot	Kartais (5–29%)
Preaxial polydactyly	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Large earlobe	Retai (1–4 %)
Large ears	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Intermittent overbreathing	Kartais (5–29%)
Rapid breathing	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Intraventricular hemorrhage	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Visada

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 CNTNAP2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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