Požymiai

Su SYNGAP1 susiję požymiai

synaptic Ras GTPase activating protein 1

Žmogaus fenotipo ontologija sieja 119 požymių su SYNGAP1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
IQ between 34 and 49	Visada
Motor delay	Visada
Abnormality of pain sensation	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
EEG with focal spike waves	Labai dažnai (80–99%)
Encephalopathy	Labai dažnai (80–99%)
Generalized myoclonic-atonic seizure	Labai dažnai (80–99%)
Generalized-onset seizure	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Abnormal eating behavior	Dažnai (30–79%)
Abnormal gait	Dažnai (30–79%)
Abnormality of coordination	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Dažnai (30–79%)
Brain degeneration	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Eating-induced seizure	Dažnai (30–79%)
EEG with multifocal slow activity	Dažnai (30–79%)
EEG with polyspike wave complexes	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Incoordination	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
Lack of peer relationships	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
More active than typical	Dažnai (30–79%)
Myoclonic absence seizure	Dažnai (30–79%)
Poor speech	Dažnai (30–79%)
Sudden loss of muscle tone	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Abnormal emotional state	Kartais (5–29%)
Abnormal myelination	Kartais (5–29%)
Abnormal subarachnoid space morphology	Kartais (5–29%)
Absent speech development	Kartais (5–29%)
Autism	Kartais (5–29%)
Brain imaging abnormality	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Diminished deep tendon reflex	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
EEG with generalized slow activity	Kartais (5–29%)
EEG with irregular generalized spike and wave complexes	Kartais (5–29%)
Hypsarrhythmia	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Interictal epileptiform activity	Kartais (5–29%)
Involuntary movements	Kartais (5–29%)
Jerking	Kartais (5–29%)
Mental deterioration	Kartais (5–29%)
Obsessive-compulsive trait	Kartais (5–29%)
Poor social interactions	Kartais (5–29%)
Recurrent hand flapping	Kartais (5–29%)
Simple febrile seizure	Kartais (5–29%)
Tremor	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)
Abnormal pyramidal sign	Retai (1–4 %)
Epileptic encephalopathy	Retai (1–4 %)
Repeated seizures without recovery between them	Retai (1–4 %)
Seizure affecting one half of brain	Retai (1–4 %)
EEG abnormality	Neužfiksuota
Epileptic spasm	Neužfiksuota
Language impairment	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal facial shape	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Congenital muscular torticollis	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Wry neck	Dažnai (30–79%)
Abnormal tongue physiology	Kartais (5–29%)
Decreased volume of lip	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Failure of development of between one and six teeth	Kartais (5–29%)
High forehead	Kartais (5–29%)
High palate	Kartais (5–29%)
Long face	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Triangular face	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Broad philtrum	Retai (1–4 %)
Full lower lip	Retai (1–4 %)
Long philtrum	Retai (1–4 %)
Nasal tip, upturned	Retai (1–4 %)
Prominent forehead	Retai (1–4 %)
Thick nasal alae	Retai (1–4 %)
Thin red part of the upper lip	Retai (1–4 %)
Wide nasal bridge	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Deeply set eye	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Abnormal involuntary eye movements	Retai (1–4 %)
Abnormality of vision	Retai (1–4 %)
Abnormally small eyeball	Retai (1–4 %)
Optic atrophy	Retai (1–4 %)
Retina degeneration	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Rigidity	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Postaxial polydactyly	Kartais (5–29%)
Increased muscle tone of arm or leg	Retai (1–4 %)
Webbed fingers or toes	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Photosensitive skin	Kartais (5–29%)
Frontal balding	Retai (1–4 %)
Premature skin wrinkling	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Anteverted ears	Kartais (5–29%)
Large ears	Kartais (5–29%)

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
Less than 10 fetal movements in 12 hours	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Kartais (5–29%)

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 SYNGAP1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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