Trăsături

Trăsături asociate cu PI4KA

phosphatidylinositol 4-kinase alpha

Human Phenotype Ontology asociază 134 trăsături cu PI4KA, 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
Cervical spinal cord atrophy	Întotdeauna
Delayed fine motor development	Întotdeauna
Delayed motor skills	Întotdeauna
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Increased reflexes	Întotdeauna
Intellectual disability	Întotdeauna
Perisylvian polymicrogyria	Întotdeauna
Abnormality of neuronal migration	Foarte des (80–99%)
Bilateral perisylvian polymicrogyria	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Ataxia	Des (30–79%)
Babinski sign	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Cognitive impairment	Des (30–79%)
Dystonia	Des (30–79%)
EEG with central focal spikes	Des (30–79%)
EEG with parietal focal spikes	Des (30–79%)
EEG with polyspike wave complexes	Des (30–79%)
Epilepsy	Des (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Des (30–79%)
Hoffmann sign	Des (30–79%)
Impaired vibratory sensation	Des (30–79%)
Intention tremor	Des (30–79%)
Lack of coordination of movement	Des (30–79%)
Language impairment	Des (30–79%)
More grooves in brain	Des (30–79%)
Perisylvian predominant thick cortex pachygyria	Des (30–79%)
Seizure affecting one half of brain	Des (30–79%)
Specific learning disability	Des (30–79%)
Toe walking	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Cerebellar dysplasia	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
EEG with frontal focal spikes	Uneori (5–29%)
Focal sensory seizure	Uneori (5–29%)
Head titubation	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Oromotor apraxia	Uneori (5–29%)
Partial paralysis of legs	Uneori (5–29%)
CNS hypomyelination	Neînregistrat
Degeneration of cerebellum	Neînregistrat
Hyperintensity of cerebral white matter on MRI	Neînregistrat
Hypoplasia of the pons	Neînregistrat
Leukodystrophy	Neînregistrat
Small cerebellum	Neînregistrat
Thin corpus callosum	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Întotdeauna
Gastrointestinal atresia	Foarte des (80–99%)
Inflammation of the large intestine	Foarte des (80–99%)
Intestinal atresia	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Bloody diarrhea	Des (30–79%)
Crohn's disease	Des (30–79%)
Jejunoileal ulceration	Des (30–79%)
Abnormal connection between rectum and vagina	Uneori (5–29%)
Abnormal ductus choledochus morphology	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Peritoneal abscess	Uneori (5–29%)
Pseudobulbar paralysis	Uneori (5–29%)
Rectal abscess	Uneori (5–29%)
Liver inflammation	Rar (1–4%)
Omphalocele	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal rhythmic movements of ankle	Întotdeauna
Club feet	Întotdeauna
Externally rotated hips	Întotdeauna
Lower limb muscle weakness	Întotdeauna
Ankle flexion contracture	Des (30–79%)
High-arched foot	Des (30–79%)
Hip contracture	Des (30–79%)
Inability to straighten knee	Des (30–79%)
Leg muscle stiffness	Des (30–79%)
Overlapping fingers	Des (30–79%)
Unilateral wrist flexion contracture	Des (30–79%)
Club foot on both sides	Uneori (5–29%)
Increased muscle tone of arm or leg	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Arthrogryposis multiplex congenita	Întotdeauna
Frequent falls	Întotdeauna
Spastic paraplegia	Întotdeauna
Spasticity and rigidity of muscles	Întotdeauna
Ectopic calcification	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Distal arthrogryposis	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Funnel chest	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Spastic tetraplegia	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Little lower jaw	Întotdeauna
Absent eyebrow	Des (30–79%)
Absent uvula	Des (30–79%)
Long, narrow head	Des (30–79%)
Weakness of facial musculature	Des (30–79%)
Abnormality of masticatory muscle	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Absence of scalp hair	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Drooling	Uneori (5–29%)
Facial diplegia	Uneori (5–29%)
Protruding tongue	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Severe combined immunodeficiency	Foarte des (80–99%)
Decreased immune function	Des (30–79%)
Recurrent abscess formation	Uneori (5–29%)
Autoimmunity	Rar (1–4%)
Psoriasiform dermatitis	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Poorly developed lungs	Des (30–79%)
Apnea	Uneori (5–29%)
Aspiration	Uneori (5–29%)
Interstitial emphysema	Uneori (5–29%)
Permanent enlargement of the airways of the lungs	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Decreased clarity of vision	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Esodeviation	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Fetal pyelectasis	Des (30–79%)
High levels of amniotic fluid	Des (30–79%)
Congenital pulmonary airway malformation	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Sparse hair	Des (30–79%)
Thickened skin	Uneori (5–29%)
Poor nail formation	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Autoimmune hemolytic anemia	Rar (1–4%)
Decreased blood lymphocyte number	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Small thymus	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Ectopic posterior pituitary	Uneori (5–29%)
Hashimoto thyroiditis	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Urinary urgency	Des (30–79%)
Dilatation of the renal pelvis	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Type 1 diabetes	Rar (1–4%)

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 PI4KA și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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