Trăsături

Trăsături asociate cu TRIM8

tripartite motif containing 8

Human Phenotype Ontology asociază 100 trăsături cu TRIM8, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TRIM8

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
EEG with occipital epileptiform discharges	Întotdeauna
EEG with parietal epileptiform discharges	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Hypsarrhythmia	Întotdeauna
Intellectual disability, severe	Întotdeauna
No social interaction	Întotdeauna
Poor eye contact	Întotdeauna
Severe global developmental delay	Întotdeauna
Absent speech development	Foarte des (80–99%)
Epileptic encephalopathy	Foarte des (80–99%)
Focal motor seizure	Foarte des (80–99%)
Generalized myoclonic seizure	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Ataxia	Des (30–79%)
Delayed ability to sit	Des (30–79%)
Delayed CNS myelination	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
EEG with burst suppression	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Increased reflexes	Des (30–79%)
Lethargy	Des (30–79%)
Atypical absence seizure	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Bilateral tonic-clonic seizure with focal onset	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Continuous spike and waves during slow sleep	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Decreased reflex response	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Diffuse cerebral atrophy	Uneori (5–29%)
Diffuse white matter abnormalities	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
EEG with spike-wave complexes	Uneori (5–29%)
Episodic ataxia	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Fewer and broader ridges in brain	Uneori (5–29%)
Focal impaired awareness seizure	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Head tremor	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Jerking	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Sudden loss of muscle tone	Uneori (5–29%)
Tonic seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Uni- and bilateral multifocal epileptiform discharges	Uneori (5–29%)
Dystonia	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Long philtrum	Des (30–79%)
Monobrow	Des (30–79%)
Gum enlargement	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Cleft palate	Rar (1–4%)
Depressed nasal bridge	Rar (1–4%)
Nasal tip, upturned	Rar (1–4%)
Sloping forehead	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Des (30–79%)
Glomerular sclerosis	Uneori (5–29%)
Glomerulonephritis	Uneori (5–29%)
Nephrotic syndrome	Uneori (5–29%)
Renal dysplasia	Rar (1–4%)
Short penis	Rar (1–4%)
Ureterocele	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Hip dislocation	Întotdeauna
Single transverse palmar crease	Uneori (5–29%)
Broad finger	Rar (1–4%)
Short finger	Rar (1–4%)
Wide toe bones	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Chronic constipation	Întotdeauna
Feeding difficulties	Des (30–79%)
Poor suck	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Poor head control	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Uneori (5–29%)
Cross-eyed	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Fine hair	Uneori (5–29%)
Absent thumbnail	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Faltering weight	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TRIM8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu