Trăsături

Trăsături asociate cu PACS2

phosphofurin acidic cluster sorting protein 2

Human Phenotype Ontology asociază 86 trăsături cu PACS2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PACS2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Encephalopathy	Foarte des (80–99%)
Abnormality of coordination	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed ability to walk	Des (30–79%)
EEG with multifocal slow activity	Des (30–79%)
Grand mal seizures	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Repetitive movements	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Abnormal gait	Uneori (5–29%)
Abnormal myelination	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Autism	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Bilateral tonic-clonic seizure with focal onset	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Cerebellar vermis hypoplasia	Uneori (5–29%)
Clonic seizure	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Focal clonic seizure	Uneori (5–29%)
Focal tonic seizure	Uneori (5–29%)
Generalized tonic seizure	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Involuntary movements	Uneori (5–29%)
Jerking	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Myoclonic seizure	Uneori (5–29%)
Repeated seizures without recovery between them	Uneori (5–29%)
Tonic seizure	Uneori (5–29%)
Tremor	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Wide based walk	Uneori (5–29%)
Epileptic encephalopathy	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Thin red part of the upper lip	Foarte des (80–99%)
Downturned corners of mouth	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Drooping lower lip	Des (30–79%)
Enlarged cisterna magna	Des (30–79%)
Macrodontia of permanent maxillary central incisor	Des (30–79%)
Monobrow	Des (30–79%)
Wide mouth	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Coarse facial features	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Astigmatism	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Rigidity	Uneori (5–29%)

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%)
Heart tip and four chambers point towards right side of body	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Des (30–79%)
Low blood neutrophil count	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Uneori (5–29%)
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	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 PACS2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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