Trăsături

Trăsături asociate cu SLC6A1

solute carrier family 6 member 1

Human Phenotype Ontology asociază 88 trăsături cu SLC6A1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Generalized myoclonic-atonic seizure	Întotdeauna
Intellectual disability	Întotdeauna
Brief seizures with staring spells	Foarte des (80–99%)
EEG with focal spike waves	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Absent speech development	Des (30–79%)
Attention deficit	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Des (30–79%)
Delayed speech and language development	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Eyelid myoclonus	Des (30–79%)
Generalized myoclonic seizure	Des (30–79%)
Lack of peer relationships	Des (30–79%)
More active than typical	Des (30–79%)
Repetitive movements	Des (30–79%)
Sudden loss of muscle tone	Des (30–79%)
Abnormal emotional state	Uneori (5–29%)
Abnormal thalamus morphology	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Brain imaging abnormality	Uneori (5–29%)
Cerebral white matter atrophy	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
EEG with generalized slow activity	Uneori (5–29%)
EEG with irregular generalized spike and wave complexes	Uneori (5–29%)
Grand mal seizures	Uneori (5–29%)
Interictal epileptiform activity	Uneori (5–29%)
Myoclonic seizure	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Simple febrile seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Abnormal pyramidal sign	Rar (1–4%)
Epileptic encephalopathy	Rar (1–4%)
Seizure affecting one half of brain	Rar (1–4%)
Unsteady walk	Rar (1–4%)
Epileptic spasm	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Deep philtrum	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Prominent nose	Des (30–79%)
Big lower jaw	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Eye folds	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Narrow opening between the eyelids	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Abnormal facial shape	Rar (1–4%)
Abnormally small head	Rar (1–4%)
Broad philtrum	Rar (1–4%)
Full lower lip	Rar (1–4%)
Long philtrum	Rar (1–4%)
Prominent forehead	Rar (1–4%)
Thick nasal alae	Rar (1–4%)
Wide mouth	Rar (1–4%)
Wide nasal bridge	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Acromesomelia	Uneori (5–29%)
Attachment of thumb close to wrist	Uneori (5–29%)
Broad big toe	Uneori (5–29%)
Broad thumb	Uneori (5–29%)
Inability to straighten knee	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)
Tapered finger	Uneori (5–29%)
Webbed 2nd-3rd fingers	Uneori (5–29%)
Webbed fingers or toes	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Plaque build-up in arteries supplying blood to heart	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Congenital pseudoarthrosis of the clavicle	Uneori (5–29%)
Muscle degeneration	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Spinal dimple	Uneori (5–29%)
Frontal balding	Rar (1–4%)
Premature skin wrinkling	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the outer ear	Des (30–79%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Pyloric stenosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Uneori (5–29%)

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 SLC6A1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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