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

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating ACTH concentration	Often (30–79%)
Decreased circulating follicle stimulating hormone concentration	Often (30–79%)
Decreased circulating luteinizing hormone level	Often (30–79%)
Decreased serum estradiol	Often (30–79%)
Decreased serum testosterone level	Often (30–79%)
Hypogonadotropic hypogonadism	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low blood cortisol level	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Abnormal hypothalamus physiology	Sometimes (5–29%)
Enlarged pituitary gland	Sometimes (5–29%)
Hypothalamic hypothyroidism	Sometimes (5–29%)
Neoplasm of the anterior pituitary	Sometimes (5–29%)
Reduced circulating prolactin concentration	Sometimes (5–29%)
Neoplasm of the posterior pituitary	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Bitemporal hemianopia	Often (30–79%)
Abnormal kinetic perimetry test	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Papilledema	Sometimes (5–29%)
Slow decrease in sharpness of vision	Sometimes (5–29%)
Visual acuity test abnormality	Sometimes (5–29%)
Weak extraocular muscles	Sometimes (5–29%)
Blindness	Rarely (1–4%)
Bulging eye	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Abnormal deposits of calcium in the brain	Often (30–79%)
Cerebellar calcifications	Often (30–79%)
Rigidity	Often (30–79%)
Functional motor deficit	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)
Back pain	Rarely (1–4%)
Cerebellar dentate nucleus calcification	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Redness of skin or mucous membrane	Very often (80–99%)
High blood pressure	Sometimes (5–29%)
Fainting spell	Rarely (1–4%)
Swollen lymph nodes	Rarely (1–4%)
Calcification of the small brain vessels	Not recorded

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Very often (80–99%)
Skin cancer	Very often (80–99%)
Thickened skin	Very often (80–99%)
Open skin sore	Often (30–79%)
Neurofibroma	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Often (30–79%)
Abnormality of the sense of smell	Sometimes (5–29%)
Bell's palsy	Sometimes (5–29%)
Neoplasm of the tongue	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Often (30–79%)
Difficulty getting a full erection	Often (30–79%)
Urinary urgency	Sometimes (5–29%)
Loss of bladder control	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Ear pain	Rarely (1–4%)
Ringing in ears	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Chromosomal breakage induced by ionizing radiation	Very often (80–99%)
Increased sensitivity to ionizing radiation	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Decreased arm strength	Sometimes (5–29%)
Lower limb muscle weakness	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality on pulmonary function testing	Rarely (1–4%)
Progressive pulmonary function impairment	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Fibrosarcoma	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Central nervous system infection	Not recorded

Abnormality of the thoracic cavity

Trait	How often it is seen
Abnormal mediastinum morphology	Rarely (1–4%)

Constitutional symptom

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

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating metabolite concentration	Not recorded

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 PDGFB and how often each is seen. Find out more at hpo.jax.org.

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