Trăsături

Trăsături asociate cu SATB1

SATB homeobox 1

Human Phenotype Ontology asociază 86 trăsături cu SATB1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SATB1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Behavioral abnormality	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Agitation	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Autism	Uneori (5–29%)
Brief seizures with staring spells	Uneori (5–29%)
Delayed ability to sit	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Developmental stagnation at onset of seizures	Uneori (5–29%)
Difficulty staying asleep	Uneori (5–29%)
EEG with focal spike waves	Uneori (5–29%)
Focal myoclonic seizure	Uneori (5–29%)
Generalized brain degeneration	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Inability to walk	Uneori (5–29%)
Intellectual disability, severe	Uneori (5–29%)
Jerking	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Multifocal epileptiform discharges	Uneori (5–29%)
Nocturnal seizures	Uneori (5–29%)
Repeated seizures without recovery between them	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Seizure affecting one half of brain	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Stereotypical hand wringing	Uneori (5–29%)
Tremor	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Drooling	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Amelogenesis imperfecta	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Delayed eruption of teeth	Uneori (5–29%)
Dental cavities	Uneori (5–29%)
Development of small head that was not present at birth	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
High forehead	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Smooth philtrum	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin dental enamel	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Widow's peak	Uneori (5–29%)
Yellow-brown discoloration of the teeth	Uneori (5–29%)
Abnormality of dental shape	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Uncontrollable movement in upper arms	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Abnormality of prenatal development or birth	Uneori (5–29%)
Caesarean section	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)
Premature birth	Uneori (5–29%)
Vacuum extraction	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Gap between 1st and 2nd toes	Uneori (5–29%)
Short foot	Uneori (5–29%)
Small hand	Uneori (5–29%)
Webbed 2nd and 3rd toes	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Des (30–79%)
Acid reflux	Uneori (5–29%)
Constipation	Uneori (5–29%)
Lactose intolerance	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Decreased body weight	Uneori (5–29%)
Obesity	Uneori (5–29%)
Overweight	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of vision	Uneori (5–29%)
Farsightedness	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Frequent urinary tract infections	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent chest infections	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Dry skin	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 SATB1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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