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

Abnormality of the endocrine system

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

Abnormality of the eye

Trait	Cât de frecvent apare
Bitemporal hemianopia	Des (30–79%)
Abnormal kinetic perimetry test	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Papilledema	Uneori (5–29%)
Slow decrease in sharpness of vision	Uneori (5–29%)
Visual acuity test abnormality	Uneori (5–29%)
Weak extraocular muscles	Uneori (5–29%)
Blindness	Rar (1–4%)
Bulging eye	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Basal ganglia calcification	Întotdeauna
Abnormal deposits of calcium in the brain	Des (30–79%)
Cerebellar calcifications	Des (30–79%)
Rigidity	Des (30–79%)
Functional motor deficit	Uneori (5–29%)
Muscle spasm	Uneori (5–29%)
Tired easily	Uneori (5–29%)
Back pain	Rar (1–4%)
Cerebellar dentate nucleus calcification	Neînregistrat

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Redness of skin or mucous membrane	Foarte des (80–99%)
High blood pressure	Uneori (5–29%)
Fainting spell	Rar (1–4%)
Swollen lymph nodes	Rar (1–4%)
Calcification of the small brain vessels	Neînregistrat

Abnormality of the integument

Trait	Cât de frecvent apare
Firm lump under the skin	Foarte des (80–99%)
Skin cancer	Foarte des (80–99%)
Thickened skin	Foarte des (80–99%)
Open skin sore	Des (30–79%)
Neurofibroma	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Expressionless face	Des (30–79%)
Abnormality of the sense of smell	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Neoplasm of the tongue	Rar (1–4%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormal absence of menstruation	Des (30–79%)
Difficulty getting a full erection	Des (30–79%)
Urinary urgency	Uneori (5–29%)
Loss of bladder control	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Dizziness	Des (30–79%)
Ear pain	Rar (1–4%)
Ringing in ears	Rar (1–4%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Chromosomal breakage induced by ionizing radiation	Foarte des (80–99%)
Increased sensitivity to ionizing radiation	Foarte des (80–99%)

Abnormality of limbs

Trait	Cât de frecvent apare
Decreased arm strength	Uneori (5–29%)
Lower limb muscle weakness	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Nausea and vomiting	Des (30–79%)
Poor swallowing	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormality on pulmonary function testing	Rar (1–4%)
Progressive pulmonary function impairment	Rar (1–4%)

Abnormal tissue mass

Trait	Cât de frecvent apare
Fibrosarcoma	Foarte des (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Bleeding in brain	Rar (1–4%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Central nervous system infection	Neînregistrat

Abnormality of the thoracic cavity

Trait	Cât de frecvent apare
Abnormal mediastinum morphology	Rar (1–4%)

Constitutional symptom

Trait	Cât de frecvent apare
Pain	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Obesity	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Abnormal circulating metabolite concentration	Neînregistrat

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

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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