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	How often it is seen
Cervical spinal cord atrophy	Always
Delayed fine motor development	Always
Delayed motor skills	Always
Delayed speech and language development	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability	Always
Perisylvian polymicrogyria	Always
Abnormality of neuronal migration	Very often (80–99%)
Bilateral perisylvian polymicrogyria	Very often (80–99%)
Abnormal gait	Often (30–79%)
Ataxia	Often (30–79%)
Babinski sign	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Cognitive impairment	Often (30–79%)
Dystonia	Often (30–79%)
EEG with central focal spikes	Often (30–79%)
EEG with parietal focal spikes	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Epilepsy	Often (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Often (30–79%)
Hoffmann sign	Often (30–79%)
Impaired vibratory sensation	Often (30–79%)
Intention tremor	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Language impairment	Often (30–79%)
More grooves in brain	Often (30–79%)
Perisylvian predominant thick cortex pachygyria	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Specific learning disability	Often (30–79%)
Toe walking	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Cerebellar dysplasia	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
EEG with frontal focal spikes	Sometimes (5–29%)
Focal sensory seizure	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Oromotor apraxia	Sometimes (5–29%)
Partial paralysis of legs	Sometimes (5–29%)
CNS hypomyelination	Not recorded
Degeneration of cerebellum	Not recorded
Hyperintensity of cerebral white matter on MRI	Not recorded
Hypoplasia of the pons	Not recorded
Leukodystrophy	Not recorded
Small cerebellum	Not recorded
Thin corpus callosum	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Gastrointestinal atresia	Very often (80–99%)
Inflammation of the large intestine	Very often (80–99%)
Intestinal atresia	Very often (80–99%)
Abdominal bloating	Often (30–79%)
Bloody diarrhea	Often (30–79%)
Crohn's disease	Often (30–79%)
Jejunoileal ulceration	Often (30–79%)
Abnormal connection between rectum and vagina	Sometimes (5–29%)
Abnormal ductus choledochus morphology	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Peritoneal abscess	Sometimes (5–29%)
Pseudobulbar paralysis	Sometimes (5–29%)
Rectal abscess	Sometimes (5–29%)
Liver inflammation	Rarely (1–4%)
Omphalocele	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Always
Club feet	Always
Externally rotated hips	Always
Lower limb muscle weakness	Always
Ankle flexion contracture	Often (30–79%)
High-arched foot	Often (30–79%)
Hip contracture	Often (30–79%)
Inability to straighten knee	Often (30–79%)
Leg muscle stiffness	Often (30–79%)
Overlapping fingers	Often (30–79%)
Unilateral wrist flexion contracture	Often (30–79%)
Club foot on both sides	Sometimes (5–29%)
Increased muscle tone of arm or leg	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Always
Frequent falls	Always
Spastic paraplegia	Always
Spasticity and rigidity of muscles	Always
Ectopic calcification	Very often (80–99%)
Decreased muscle tone in infant	Often (30–79%)
Distal arthrogryposis	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Lower limb spasticity	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Absent eyebrow	Often (30–79%)
Absent uvula	Often (30–79%)
Long, narrow head	Often (30–79%)
Weakness of facial musculature	Often (30–79%)
Abnormality of masticatory muscle	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Absence of scalp hair	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Drooling	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Severe combined immunodeficiency	Very often (80–99%)
Decreased immune function	Often (30–79%)
Recurrent abscess formation	Sometimes (5–29%)
Autoimmunity	Rarely (1–4%)
Psoriasiform dermatitis	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Often (30–79%)
Apnea	Sometimes (5–29%)
Aspiration	Sometimes (5–29%)
Interstitial emphysema	Sometimes (5–29%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Esodeviation	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal pyelectasis	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)
Congenital pulmonary airway malformation	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Often (30–79%)
Thickened skin	Sometimes (5–29%)
Poor nail formation	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Rarely (1–4%)
Decreased blood lymphocyte number	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Small thymus	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Ectopic posterior pituitary	Sometimes (5–29%)
Hashimoto thyroiditis	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Urinary urgency	Often (30–79%)
Dilatation of the renal pelvis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Type 1 diabetes	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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