Požymiai

Su LGI1 susiję požymiai

leucine rich glioma inactivated 1

Žmogaus fenotipo ontologija sieja 132 požymių su LGI1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

LGI1

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Absent speech development	Visada
Bilateral tonic-clonic seizure with focal onset	Visada
Delayed ability to sit	Visada
Delayed ability to walk	Visada
Delayed speech and language development	Visada
EEG with focal epileptiform discharges	Visada
Epilepsy	Visada
Generalized clonic seizure	Visada
Grand mal seizures	Visada
Inability to walk by childhood/adolescence	Visada
Motor delay	Visada
Poor eye contact	Visada
Severe global developmental delay	Visada
Bilateral tonic-clonic seizure with generalized onset	Labai dažnai (80–99%)
Epileptic encephalopathy	Labai dažnai (80–99%)
Focal motor seizure	Labai dažnai (80–99%)
Generalized myoclonic seizure	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Hallucinations of sound	Labai dažnai (80–99%)
Increased reflexes	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Repeated seizures without recovery between them	Labai dažnai (80–99%)
Seizure affecting one half of brain	Labai dažnai (80–99%)
Degeneration of cerebrum	Dažnai (30–79%)
Difficulty finding words	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
EEG with burst suppression	Dažnai (30–79%)
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	Dažnai (30–79%)
Focal aware seizure	Dažnai (30–79%)
Focal aware sensory seizure with auditory features	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Focal sensory seizure with auditory features	Dažnai (30–79%)
Focal tonic seizure	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Interictal epileptiform activity	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Multifocal epileptiform discharges	Dažnai (30–79%)
Abnormal autonomic nervous system physiology	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Choreoathetosis	Kartais (5–29%)
CNS hypomyelination	Kartais (5–29%)
Degeneration of cerebellum	Kartais (5–29%)
Deja vu	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Diffuse cerebral atrophy	Kartais (5–29%)
Diffuse white matter abnormalities	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
EEG with abnormally slow frequencies	Kartais (5–29%)
EEG with generalized epileptiform discharges	Kartais (5–29%)
EEG with spike-wave complexes	Kartais (5–29%)
Episodic ataxia	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Fewer and broader ridges in brain	Kartais (5–29%)
Focal automatism seizure	Kartais (5–29%)
Focal autonomic seizure	Kartais (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Kartais (5–29%)
Focal clonic seizure	Kartais (5–29%)
Focal sensory seizure with cephalic sensation	Kartais (5–29%)
Focal sensory seizure with vestibular features	Kartais (5–29%)
Focal sensory seizure with visual features	Kartais (5–29%)
Generalized tonic seizure	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Jerking	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Nocturnal seizures	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Thin corpus callosum	Kartais (5–29%)
Tremor	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Visual hallucinations	Kartais (5–29%)
Behavioral abnormality	Retai (1–4 %)
Depression	Retai (1–4 %)
Dystonia	Retai (1–4 %)
Generalized-onset seizure	Retai (1–4 %)
Impulsivity	Retai (1–4 %)
Migraine	Retai (1–4 %)
Brain imaging abnormality	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Small head present at birth	Visada
Eye folds	Dažnai (30–79%)
Sparse eyebrow	Dažnai (30–79%)
Focal sensory seizure with olfactory features	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Prominent metopic ridge	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Abnormally small head	Retai (1–4 %)
Cleft palate	Retai (1–4 %)
Depressed nasal bridge	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Sloping forehead	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Appendicular hypotonia	Visada
Involuntary muscle stiffness, contraction, or spasm	Visada
Low muscle tone	Visada
Muscle weakness	Labai dažnai (80–99%)
Decreased muscle tone in infant	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Increased muscle tone of arm or leg	Visada
Broad finger	Retai (1–4 %)
Short finger	Retai (1–4 %)
Wide toe bones	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Umbilical hernia	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Renal dysplasia	Retai (1–4 %)
Short penis	Retai (1–4 %)
Ureterocele	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Glabellar hemangioma	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Large ears	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Impairment of activities of daily living	Visada
Sudden death	Visada

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Caesarean section	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Absent thumbnail	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Respiratory failure	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 LGI1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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