Tratti

Tratti collegati a PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

La Human Phenotype Ontology collega 364 tratti a PIK3CA, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Epilepsy	Molto spesso (80–99%)
Glioblastoma multiforme	Molto spesso (80–99%)
Headache	Molto spesso (80–99%)
Hyperintensity of cerebral white matter on MRI	Molto spesso (80–99%)
Interictal EEG abnormality	Molto spesso (80–99%)
Intracranial meningioma	Molto spesso (80–99%)
Abnormal brain FDG positron emission tomography	Spesso (30–79%)
Abnormal shape of nervous system	Spesso (30–79%)
Absent/small cerebellum	Spesso (30–79%)
Anxiety	Spesso (30–79%)
Attention deficit	Spesso (30–79%)
Behavioral abnormality	Spesso (30–79%)
Depression	Spesso (30–79%)
EEG with burst suppression	Spesso (30–79%)
EEG with focal sharp slow waves	Spesso (30–79%)
EEG with focal spikes	Spesso (30–79%)
EEG with polyspike wave complexes	Spesso (30–79%)
Focal cortical dysplasia	Spesso (30–79%)
Focal motor seizure	Spesso (30–79%)
Focal T2 hyperintense brainstem lesion	Spesso (30–79%)
Focal T2 hypointense brainstem lesion	Spesso (30–79%)
Focal T2 hypointense thalamic lesion	Spesso (30–79%)
Global developmental delay	Spesso (30–79%)
Hemihypsarrhythmia	Spesso (30–79%)
Hemimegalencephaly	Spesso (30–79%)
Intellectual disability	Spesso (30–79%)
Irritability	Spesso (30–79%)
Migraine	Spesso (30–79%)
More grooves in brain	Spesso (30–79%)
Nerve tumor	Spesso (30–79%)
Numbness	Spesso (30–79%)
Pins and needles feeling	Spesso (30–79%)
Rise in pressure inside skull	Spesso (30–79%)
Seizure affecting one half of brain	Spesso (30–79%)
Too much cerebrospinal fluid in the brain	Spesso (30–79%)
Ventriculomegaly	Spesso (30–79%)
Abnormal central motor function	A volte (5–29%)
Abnormal central sensory function	A volte (5–29%)
Abnormal gait	A volte (5–29%)
Abnormal neuron shape	A volte (5–29%)
Abnormal pyramidal sign	A volte (5–29%)
Abnormal social behavior	A volte (5–29%)
Abnormal speech pattern	A volte (5–29%)
Abnormality of the cerebellum	A volte (5–29%)
Aplasia/Hypoplasia of the corpus callosum	A volte (5–29%)
Ataxia	A volte (5–29%)
Benign neoplasm of the central nervous system	A volte (5–29%)
Cancer of early nerve cells	A volte (5–29%)
Chiari malformation	A volte (5–29%)
Cognitive impairment	A volte (5–29%)
Cranial nerve paralysis	A volte (5–29%)
Difficulty articulating speech	A volte (5–29%)
Difficulty sleeping	A volte (5–29%)
Disorder of involuntary muscle movements	A volte (5–29%)
Disturbed sensory perception	A volte (5–29%)
Dysgraphia	A volte (5–29%)
Epileptic spasm	A volte (5–29%)
Fewer and broader ridges in brain	A volte (5–29%)
Focal tonic seizure	A volte (5–29%)
Gliosis	A volte (5–29%)
Gray matter heterotopia	A volte (5–29%)
Hallucinations	A volte (5–29%)
Intellectual disability, mild	A volte (5–29%)
Intellectual disability, severe	A volte (5–29%)
Jerking	A volte (5–29%)
Loss of developmental milestones	A volte (5–29%)
Memory impairment	A volte (5–29%)
Meningocele	A volte (5–29%)
Multiple mucosal neuromas	A volte (5–29%)
Myelomeningocele	A volte (5–29%)
Paralysis or weakness of one side of body	A volte (5–29%)
Pauses in breathing while sleeping	A volte (5–29%)
Repeated seizures without recovery between them	A volte (5–29%)
Spinal cord lesion	A volte (5–29%)
Spinal dysraphism	A volte (5–29%)
Spinal meningioma	A volte (5–29%)
Split spine	A volte (5–29%)
Sudden loss of muscle tone	A volte (5–29%)
Tethered cord	A volte (5–29%)
Trigeminal neuralgia	A volte (5–29%)
Weakness of one side of body	A volte (5–29%)
Astrocytoma	Raramente (1–4%)
Brain stem compression	Raramente (1–4%)
Can't control feelings	Raramente (1–4%)
Excessive daytime sleepiness	Raramente (1–4%)
Ganglioneuroma	Raramente (1–4%)
Noncancerous growth of membranes covering brain	Raramente (1–4%)
Spasms on one side of the face	Raramente (1–4%)
Transient global amnesia	Raramente (1–4%)
Cavum septum pellucidum	Non registrato
Enlarged brain	Non registrato
Intention tremor	Non registrato

Abnormality of head or neck

Tratto	Frequenza di osservazione
Capillary malformation of the lip	Sempre
Dimple chin	Sempre
Enlargement of half of face	Sempre
Facial asymmetry	Sempre
Adenoma sebaceum	Molto spesso (80–99%)
Big calvaria	Molto spesso (80–99%)
Narrow eyelid opening	Molto spesso (80–99%)
Wide mouth	Molto spesso (80–99%)
Abnormality of head shape	Spesso (30–79%)
Abnormality of the skull	Spesso (30–79%)
Abnormally large tongue	Spesso (30–79%)
Big lower jaw	Spesso (30–79%)
Big maxilla	Spesso (30–79%)
Deviated nasal septum	Spesso (30–79%)
Early eruption of teeth	Spesso (30–79%)
Enlargement of parotid gland	Spesso (30–79%)
Frontal bossing	Spesso (30–79%)
Full cheeks	Spesso (30–79%)
High forehead	Spesso (30–79%)
Prominence of cheekbone	Spesso (30–79%)
Abnormality of the sense of smell	A volte (5–29%)
Abnormally small head	A volte (5–29%)
Absence of adult teeth	A volte (5–29%)
Adhesion of the temporomandibular joint	A volte (5–29%)
Bad bite	A volte (5–29%)
Bell's palsy	A volte (5–29%)
Cancer of salivary gland	A volte (5–29%)
Depressed nasal bridge	A volte (5–29%)
Increased size of tooth	A volte (5–29%)
Webbed neck	A volte (5–29%)
Neoplasm of the tongue	Raramente (1–4%)
Broad forehead	Non registrato
Decreased size of maxilla	Non registrato
Downward slanting of the opening between the eyelids	Non registrato
Enlargement of skull bones	Non registrato
Eye folds	Non registrato
Grooved tongue	Non registrato
High palate	Non registrato
Little lower jaw	Non registrato
Narrow mouth	Non registrato
Progressively abnormally enlarging cranium	Non registrato
Smooth philtrum	Non registrato

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Cerebral cavernous malformation	Sempre
Strawberry birthmark	Sempre
Venous malformation	Sempre
Arteriovenous malformation	Molto spesso (80–99%)
Lymphangioma	Molto spesso (80–99%)
Poorly functioning veins	Molto spesso (80–99%)
Strawberry mark	Molto spesso (80–99%)
Telangiectasia of the skin	Molto spesso (80–99%)
Visceral angiomatosis	Molto spesso (80–99%)
Abnormal lymphatic vessel morphology	Spesso (30–79%)
Abnormality of the cerebral blood vessels	Spesso (30–79%)
Blood clot in artery of lung	Spesso (30–79%)
Collection of dilated blood vessels that forms mass	Spesso (30–79%)
Cutis marmorata	Spesso (30–79%)
Enlarged tonsils	Spesso (30–79%)
Varicose veins	Spesso (30–79%)
Vascular skin abnormality	Spesso (30–79%)
Abnormal cardiovascular system morphology	A volte (5–29%)
Abnormal heart rate	A volte (5–29%)
Abnormal tricuspid valve morphology	A volte (5–29%)
Abnormal vein	A volte (5–29%)
Abnormality of lung artery	A volte (5–29%)
Abnormality of the lymphatic system	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Cardiac diverticulum	A volte (5–29%)
Cardiac failure	A volte (5–29%)
Choroidal hemangioma	A volte (5–29%)
Disruption of blood oxygen supply to brain	A volte (5–29%)
Increased spleen size	A volte (5–29%)
Patent ductus arteriosus	A volte (5–29%)
Peripheral arteriovenous fistula	A volte (5–29%)
Retinal cavernous hemangioma	A volte (5–29%)
Fainting spell	Raramente (1–4%)
Abnormality of the cardiovascular system	Non registrato
Hole in heart wall separating two lower heart chambers	Non registrato

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Decreased circulating ACTH concentration	Spesso (30–79%)
Decreased circulating follicle stimulating hormone concentration	Spesso (30–79%)
Decreased circulating luteinizing hormone level	Spesso (30–79%)
Decreased serum estradiol	Spesso (30–79%)
Decreased serum testosterone level	Spesso (30–79%)
Hypogonadotropic hypogonadism	Spesso (30–79%)
Increased circulating prolactin concentration	Spesso (30–79%)
Low blood cortisol level	Spesso (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Spesso (30–79%)
Secondary growth hormone deficiency	Spesso (30–79%)
Abnormal hypothalamus physiology	A volte (5–29%)
Enlarged pituitary gland	A volte (5–29%)
Hypothalamic hypothyroidism	A volte (5–29%)
Neoplasm of the anterior pituitary	A volte (5–29%)
Neoplasm of the thyroid gland	A volte (5–29%)
Noncancerous tumor in pituitary gland	A volte (5–29%)
Reduced circulating prolactin concentration	A volte (5–29%)
Adrenal calcification	Raramente (1–4%)
Neoplasm of the posterior pituitary	Raramente (1–4%)
Enlarged thyroid gland in neck	Non registrato
Overactive thyroid	Non registrato
Thyroid adenoma	Non registrato
Thyroid gland inflammation	Non registrato
Underactive thyroid	Non registrato

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Abnormal absence of menstruation	Spesso (30–79%)
Difficulty getting a full erection	Spesso (30–79%)
Small kidneys	Spesso (30–79%)
Abnormality of the menstrual cycle	A volte (5–29%)
Absent/small kidney	A volte (5–29%)
Cystic kidney disease	A volte (5–29%)
Endometrial carcinoma	A volte (5–29%)
Enlarged kidney	A volte (5–29%)
Epididymal cyst	A volte (5–29%)
Hydrocele testis	A volte (5–29%)
Kidney cancer	A volte (5–29%)
Malignant genitourinary tract tumor	A volte (5–29%)
Nephroblastoma	A volte (5–29%)
Ovarian cancer	A volte (5–29%)
Ovarian serous cystadenoma	A volte (5–29%)
Testicular lipomatosis	A volte (5–29%)
Urinary tract neoplasm	A volte (5–29%)
Loss of bladder control	Raramente (1–4%)
Cancer starting in small tubes in kidneys	Non registrato
Dysgerminoma	Non registrato
Ovarian cyst	Non registrato
Ovarian papillary adenocarcinoma	Non registrato
Transitional cell carcinoma of the bladder	Non registrato
Uterine leiomyosarcoma	Non registrato

Abnormality of limbs

Tratto	Frequenza di osservazione
Asymmetric overgrowth	Sempre
Finger overgrowth	Sempre
Left and right leg differ in length or width	Sempre
Duplication of bones of the toes	Molto spesso (80–99%)
Extra finger	Molto spesso (80–99%)
Finger syndactyly	Molto spesso (80–99%)
Fused toes	Molto spesso (80–99%)
Unequal size of arms	Molto spesso (80–99%)
Broad palm	Spesso (30–79%)
Bulbous tips of toes	Spesso (30–79%)
Gap between 1st and 2nd toes	Spesso (30–79%)
Overgrowth of one arm	Spesso (30–79%)
Overgrowth of one leg	Spesso (30–79%)
Ulnar deviation of the hand	Spesso (30–79%)
Cutaneous syndactyly	A volte (5–29%)
Decreased arm strength	A volte (5–29%)
Dislocated kneecap	A volte (5–29%)
Lower limb muscle weakness	A volte (5–29%)
More than five fingers or toes on hands or feet	A volte (5–29%)
Webbed 2nd-4th toes	A volte (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Non registrato
Webbed fingers or toes	Non registrato

Abnormality of the eye

Tratto	Frequenza di osservazione
Drooping upper eyelid	Molto spesso (80–99%)
Bitemporal hemianopia	Spesso (30–79%)
Abnormal kinetic perimetry test	A volte (5–29%)
Amaurosis fugax	A volte (5–29%)
Deeply set eye	A volte (5–29%)
Eye muscle paralysis	A volte (5–29%)
Hemianopia	A volte (5–29%)
Oculomotor nerve palsy	A volte (5–29%)
Optic atrophy	A volte (5–29%)
Papilledema	A volte (5–29%)
Partial loss of field of vision	A volte (5–29%)
Slow decrease in sharpness of vision	A volte (5–29%)
Visual acuity test abnormality	A volte (5–29%)
Visual impairment	A volte (5–29%)
Weak extraocular muscles	A volte (5–29%)
Blindness	Raramente (1–4%)
Bulging eye	Raramente (1–4%)
Abnormally small eyeball	Non registrato
Angioid streaks	Non registrato
Close sighted	Non registrato
Clouding of the lens of the eye	Non registrato
Wide-set eyes	Non registrato

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Fatty lump	Sempre
Abnormally shaped skeletal	Molto spesso (80–99%)
Increased adipose tissue	Molto spesso (80–99%)
Bacterial infection of skin	Spesso (30–79%)
Bone overgrowth	Spesso (30–79%)
Double-Jointed	Spesso (30–79%)
Loss of fat tissue in localized area	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Muscle weakness	Spesso (30–79%)
Scoliosis	Spesso (30–79%)
Spasticity and rigidity of muscles	Spesso (30–79%)
Flexed joint that cannot be straightened	A volte (5–29%)
Functional motor deficit	A volte (5–29%)
Funnel chest	A volte (5–29%)
Multiple fatty lumps	A volte (5–29%)
Narrow chest	A volte (5–29%)
Skeletal tumor	A volte (5–29%)
Abnormal formation of the hip	Raramente (1–4%)
Back pain	Raramente (1–4%)
Generalized decreased muscle tone	Non registrato
Hernia	Non registrato
Hunched back	Non registrato

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Abdominal pain	Molto spesso (80–99%)
Constipation	Molto spesso (80–99%)
Malabsorption	Molto spesso (80–99%)
Colon cancer	Spesso (30–79%)
Nausea and vomiting	Spesso (30–79%)
Rectal tumor	Spesso (30–79%)
Stomach tumor	Spesso (30–79%)
Accumulation of fluid in the abdomen	A volte (5–29%)
Cancer of the pancreas	A volte (5–29%)
Enlarged liver	A volte (5–29%)
Episodic vomiting	A volte (5–29%)
Growths in inner lining of intestine	A volte (5–29%)
Hepatocellular carcinoma	A volte (5–29%)
Liver cancer	A volte (5–29%)
Pancreatic adenocarcinoma	A volte (5–29%)
Colonic diverticula	Non registrato
Hamartomatous polyposis	Non registrato
Hereditary nonpolyposis colorectal carcinoma	Non registrato
Micronodular cirrhosis	Non registrato
Stomach cancer	Non registrato
Subacute progressive viral hepatitis	Non registrato

Abnormality of the integument

Tratto	Frequenza di osservazione
Capillary malformation	Sempre
port-wine stain	Molto spesso (80–99%)
Skin cancer	Molto spesso (80–99%)
Abnormal fat tissue distribution below the skin	Spesso (30–79%)
Epidermal nevus	Spesso (30–79%)
Hyperpigmented skin patches	Spesso (30–79%)
Basal cell carcinoma	A volte (5–29%)
Beauty mark	A volte (5–29%)
Hyperparakeratosis	A volte (5–29%)
Mole	A volte (5–29%)
Neurofibroma	A volte (5–29%)
Senile wart	A volte (5–29%)
Skin tags	A volte (5–29%)
Cutis marmorata telangiectatica congenita	Non registrato
Numerous moles	Non registrato
Subcutaneous lipoma	Non registrato

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Bleeding in brain	Molto spesso (80–99%)
Gastrointestinal bleeding	Molto spesso (80–99%)
Blood clot in vein	Spesso (30–79%)
Abnormal blood clot	A volte (5–29%)
Blood tumor	A volte (5–29%)
Hypercoagulability	A volte (5–29%)
Internal bleeding	A volte (5–29%)
Microcytic anemia	A volte (5–29%)
Prolonged bleeding time	A volte (5–29%)
Blood cancer	Non registrato

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Laryngeal carcinoma	A volte (5–29%)
Respiratory function loss	A volte (5–29%)
Abnormality on pulmonary function testing	Raramente (1–4%)
Progressive pulmonary function impairment	Raramente (1–4%)
Alveolar cell carcinoma	Non registrato
Lung adenocarcinoma	Non registrato
Non-small cell lung carcinoma	Non registrato

Growth abnormality

Tratto	Frequenza di osservazione
General overgrowth	Sempre
Uneven or disproportionate growth of one body part compared to another	Molto spesso (80–99%)
Weight loss	Molto spesso (80–99%)
Faltering weight	Spesso (30–79%)
Tall stature	Spesso (30–79%)
Acral overgrowth	A volte (5–29%)
Obesity	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Small ears	A volte (5–29%)
Ear pain	Raramente (1–4%)
Ringing in ears	Raramente (1–4%)
Vestibular schwannoma	Raramente (1–4%)
Hearing impairment	Non registrato
Large earlobe	Non registrato

Laboratory abnormality

Tratto	Frequenza di osservazione
Swelling caused by excess lymph fluid under skin	Spesso (30–79%)
Blood in urine	A volte (5–29%)
Fluid retention	A volte (5–29%)
Hydrops fetalis	A volte (5–29%)
Increased level of L-fucose in urine	Non registrato

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Chromosomal breakage induced by ionizing radiation	Molto spesso (80–99%)
Increased sensitivity to ionizing radiation	Molto spesso (80–99%)

Abnormality of the breast

Tratto	Frequenza di osservazione
Breast cancer	A volte (5–29%)
Enlarged male breast	Non registrato

Constitutional symptom

Tratto	Frequenza di osservazione
Fatigue	Molto spesso (80–99%)
Pain	A volte (5–29%)

Abnormal tissue mass

Tratto	Frequenza di osservazione
Abnormal tissue mass	A volte (5–29%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Seborrheic dermatitis	A volte (5–29%)

Abnormality of the thoracic cavity

Tratto	Frequenza di osservazione
Abnormal mediastinum morphology	Raramente (1–4%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a PIK3CA e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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