Traits

Traits linked to PI4KA

phosphatidylinositol 4-kinase alpha

The Human Phenotype Ontology links 134 traits to PI4KA, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Poor swallowing	Her zaman
Gastrointestinal atresia	Çok sık (%80–99)
Inflammation of the large intestine	Çok sık (%80–99)
Intestinal atresia	Çok sık (%80–99)
Abdominal bloating	Sık (%30–79)
Bloody diarrhea	Sık (%30–79)
Crohn's disease	Sık (%30–79)
Jejunoileal ulceration	Sık (%30–79)
Abnormal connection between rectum and vagina	Bazen (%5–29)
Abnormal ductus choledochus morphology	Bazen (%5–29)
Acid reflux	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)
Intestinal malrotation	Bazen (%5–29)
Peritoneal abscess	Bazen (%5–29)
Pseudobulbar paralysis	Bazen (%5–29)
Rectal abscess	Bazen (%5–29)
Liver inflammation	Seyrek (%1–4)
Omphalocele	Seyrek (%1–4)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Abnormal rhythmic movements of ankle	Her zaman
Club feet	Her zaman
Externally rotated hips	Her zaman
Lower limb muscle weakness	Her zaman
Ankle flexion contracture	Sık (%30–79)
High-arched foot	Sık (%30–79)
Hip contracture	Sık (%30–79)
Inability to straighten knee	Sık (%30–79)
Leg muscle stiffness	Sık (%30–79)
Overlapping fingers	Sık (%30–79)
Unilateral wrist flexion contracture	Sık (%30–79)
Club foot on both sides	Bazen (%5–29)
Increased muscle tone of arm or leg	Bazen (%5–29)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Arthrogryposis multiplex congenita	Her zaman
Frequent falls	Her zaman
Spastic paraplegia	Her zaman
Spasticity and rigidity of muscles	Her zaman
Ectopic calcification	Çok sık (%80–99)
Decreased muscle tone in infant	Sık (%30–79)
Distal arthrogryposis	Sık (%30–79)
Flexed joint that cannot be straightened	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Sık (%30–79)
Funnel chest	Bazen (%5–29)
Hunched back	Bazen (%5–29)
Lower limb spasticity	Bazen (%5–29)
Spastic tetraplegia	Bazen (%5–29)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Little lower jaw	Her zaman
Absent eyebrow	Sık (%30–79)
Absent uvula	Sık (%30–79)
Long, narrow head	Sık (%30–79)
Weakness of facial musculature	Sık (%30–79)
Abnormality of masticatory muscle	Bazen (%5–29)
Abnormally small head	Bazen (%5–29)
Absence of scalp hair	Bazen (%5–29)
Blockage of the rear opening of the nasal cavity	Bazen (%5–29)
Drooling	Bazen (%5–29)
Facial diplegia	Bazen (%5–29)
Protruding tongue	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Severe combined immunodeficiency	Çok sık (%80–99)
Decreased immune function	Sık (%30–79)
Recurrent abscess formation	Bazen (%5–29)
Autoimmunity	Seyrek (%1–4)
Psoriasiform dermatitis	Seyrek (%1–4)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Poorly developed lungs	Sık (%30–79)
Apnea	Bazen (%5–29)
Aspiration	Bazen (%5–29)
Interstitial emphysema	Bazen (%5–29)
Permanent enlargement of the airways of the lungs	Bazen (%5–29)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Decreased clarity of vision	Sık (%30–79)
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Esodeviation	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Fetal pyelectasis	Sık (%30–79)
High levels of amniotic fluid	Sık (%30–79)
Congenital pulmonary airway malformation	Seyrek (%1–4)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Sparse hair	Sık (%30–79)
Thickened skin	Bazen (%5–29)
Poor nail formation	Seyrek (%1–4)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Autoimmune hemolytic anemia	Seyrek (%1–4)
Decreased blood lymphocyte number	Kaydedilmedi

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Small thymus	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Ectopic posterior pituitary	Bazen (%5–29)
Hashimoto thyroiditis	Seyrek (%1–4)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Urinary urgency	Sık (%30–79)
Dilatation of the renal pelvis	Bazen (%5–29)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Hearing impairment	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Prenatal growth deficiency	Sık (%30–79)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Type 1 diabetes	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PI4KA and how often each is seen. Find out more at hpo.jax.org.

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