Traits

Traits linked to PDGFB

platelet derived growth factor subunit B

The Human Phenotype Ontology links 133 traits to PDGFB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intracranial meningioma	Labai dažnai (80–99%)
Abnormal brain FDG positron emission tomography	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Bilateral basal ganglia lesions	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Dementia	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Focal T2 hypointense thalamic lesion	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Personality changes	Dažnai (30–79%)
Psychosis	Dažnai (30–79%)
Seizure affecting one half of brain	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Tremor	Dažnai (30–79%)
Worsening neurological symptoms	Dažnai (30–79%)
Abnormal central motor function	Kartais (5–29%)
Abnormal central sensory function	Kartais (5–29%)
Abnormal gait	Kartais (5–29%)
Abnormal pyramidal sign	Kartais (5–29%)
Abnormality of the cerebellum	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Chorea	Kartais (5–29%)
Clumsiness	Kartais (5–29%)
Cognitive impairment	Kartais (5–29%)
Cranial nerve paralysis	Kartais (5–29%)
Depression	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Dystonia	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Impaired executive functioning	Kartais (5–29%)
Involuntary movements	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Migraine	Kartais (5–29%)
Parkinsonism	Kartais (5–29%)
Poor concentration	Kartais (5–29%)
Postural tremor	Kartais (5–29%)
Rise in pressure inside skull	Kartais (5–29%)
Slurred speech	Kartais (5–29%)
Spinal meningioma	Kartais (5–29%)
Thalamic calcification	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Trigeminal neuralgia	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)
Weakness of one side of body	Kartais (5–29%)
Abnormal speech pattern	Retai (1–4 %)
Brain stem compression	Retai (1–4 %)
Can't control feelings	Retai (1–4 %)
Excessive daytime sleepiness	Retai (1–4 %)
Hand tremor	Retai (1–4 %)
Involuntary writhing movements in fingers, hands, toes, and feet	Retai (1–4 %)
Lack of feeling, emotion, interest	Retai (1–4 %)
Motor tics	Retai (1–4 %)
Spasms on one side of the face	Retai (1–4 %)
Transient global amnesia	Retai (1–4 %)
Balance impairment	Neužfiksuota
Difficulty performing quick and alternating movements	Neužfiksuota
Increased reflexes	Neužfiksuota
Mental deterioration	Neužfiksuota
Micrographia	Neužfiksuota
Noncancerous growth of membranes covering brain	Neužfiksuota
Uncoordinated limb movement	Neužfiksuota

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Decreased circulating ACTH concentration	Dažnai (30–79%)
Decreased circulating follicle stimulating hormone concentration	Dažnai (30–79%)
Decreased circulating luteinizing hormone level	Dažnai (30–79%)
Decreased serum estradiol	Dažnai (30–79%)
Decreased serum testosterone level	Dažnai (30–79%)
Hypogonadotropic hypogonadism	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low blood cortisol level	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Secondary growth hormone deficiency	Dažnai (30–79%)
Abnormal hypothalamus physiology	Kartais (5–29%)
Enlarged pituitary gland	Kartais (5–29%)
Hypothalamic hypothyroidism	Kartais (5–29%)
Neoplasm of the anterior pituitary	Kartais (5–29%)
Reduced circulating prolactin concentration	Kartais (5–29%)
Neoplasm of the posterior pituitary	Retai (1–4 %)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Bitemporal hemianopia	Dažnai (30–79%)
Abnormal kinetic perimetry test	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Oculomotor nerve palsy	Kartais (5–29%)
Papilledema	Kartais (5–29%)
Slow decrease in sharpness of vision	Kartais (5–29%)
Visual acuity test abnormality	Kartais (5–29%)
Weak extraocular muscles	Kartais (5–29%)
Blindness	Retai (1–4 %)
Bulging eye	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Basal ganglia calcification	Visada
Abnormal deposits of calcium in the brain	Dažnai (30–79%)
Cerebellar calcifications	Dažnai (30–79%)
Rigidity	Dažnai (30–79%)
Functional motor deficit	Kartais (5–29%)
Muscle spasm	Kartais (5–29%)
Tired easily	Kartais (5–29%)
Back pain	Retai (1–4 %)
Cerebellar dentate nucleus calcification	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Redness of skin or mucous membrane	Labai dažnai (80–99%)
High blood pressure	Kartais (5–29%)
Fainting spell	Retai (1–4 %)
Swollen lymph nodes	Retai (1–4 %)
Calcification of the small brain vessels	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Firm lump under the skin	Labai dažnai (80–99%)
Skin cancer	Labai dažnai (80–99%)
Thickened skin	Labai dažnai (80–99%)
Open skin sore	Dažnai (30–79%)
Neurofibroma	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Expressionless face	Dažnai (30–79%)
Abnormality of the sense of smell	Kartais (5–29%)
Bell's palsy	Kartais (5–29%)
Neoplasm of the tongue	Retai (1–4 %)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormal absence of menstruation	Dažnai (30–79%)
Difficulty getting a full erection	Dažnai (30–79%)
Urinary urgency	Kartais (5–29%)
Loss of bladder control	Retai (1–4 %)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Ear pain	Retai (1–4 %)
Ringing in ears	Retai (1–4 %)

Abnormal cellular phenotype

Trait	Kaip dažnai pasireiškia
Chromosomal breakage induced by ionizing radiation	Labai dažnai (80–99%)
Increased sensitivity to ionizing radiation	Labai dažnai (80–99%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Decreased arm strength	Kartais (5–29%)
Lower limb muscle weakness	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Nausea and vomiting	Dažnai (30–79%)
Poor swallowing	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Abnormality on pulmonary function testing	Retai (1–4 %)
Progressive pulmonary function impairment	Retai (1–4 %)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Fibrosarcoma	Labai dažnai (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bleeding in brain	Retai (1–4 %)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Central nervous system infection	Neužfiksuota

Abnormality of the thoracic cavity

Trait	Kaip dažnai pasireiškia
Abnormal mediastinum morphology	Retai (1–4 %)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Pain	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Obesity	Kartais (5–29%)

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Abnormal circulating metabolite concentration	Neužfiksuota

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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

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