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

Abnormality of the endocrine system

Trait	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%)
Reduced circulating prolactin concentration	A volte (5–29%)
Neoplasm of the posterior pituitary	Raramente (1–4%)

Abnormality of the eye

Trait	Frequenza di osservazione
Bitemporal hemianopia	Spesso (30–79%)
Abnormal kinetic perimetry test	A volte (5–29%)
Eye muscle paralysis	A volte (5–29%)
Oculomotor nerve palsy	A volte (5–29%)
Papilledema	A volte (5–29%)
Slow decrease in sharpness of vision	A volte (5–29%)
Visual acuity test abnormality	A volte (5–29%)
Weak extraocular muscles	A volte (5–29%)
Blindness	Raramente (1–4%)
Bulging eye	Raramente (1–4%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Basal ganglia calcification	Sempre
Abnormal deposits of calcium in the brain	Spesso (30–79%)
Cerebellar calcifications	Spesso (30–79%)
Rigidity	Spesso (30–79%)
Functional motor deficit	A volte (5–29%)
Muscle spasm	A volte (5–29%)
Tired easily	A volte (5–29%)
Back pain	Raramente (1–4%)
Cerebellar dentate nucleus calcification	Non registrato

Abnormality of the cardiovascular system

Trait	Frequenza di osservazione
Redness of skin or mucous membrane	Molto spesso (80–99%)
High blood pressure	A volte (5–29%)
Fainting spell	Raramente (1–4%)
Swollen lymph nodes	Raramente (1–4%)
Calcification of the small brain vessels	Non registrato

Abnormality of the integument

Trait	Frequenza di osservazione
Firm lump under the skin	Molto spesso (80–99%)
Skin cancer	Molto spesso (80–99%)
Thickened skin	Molto spesso (80–99%)
Open skin sore	Spesso (30–79%)
Neurofibroma	A volte (5–29%)

Abnormality of head or neck

Trait	Frequenza di osservazione
Expressionless face	Spesso (30–79%)
Abnormality of the sense of smell	A volte (5–29%)
Bell's palsy	A volte (5–29%)
Neoplasm of the tongue	Raramente (1–4%)

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Abnormal absence of menstruation	Spesso (30–79%)
Difficulty getting a full erection	Spesso (30–79%)
Urinary urgency	A volte (5–29%)
Loss of bladder control	Raramente (1–4%)

Abnormality of the ear

Trait	Frequenza di osservazione
Dizziness	Spesso (30–79%)
Ear pain	Raramente (1–4%)
Ringing in ears	Raramente (1–4%)

Abnormal cellular phenotype

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

Abnormality of limbs

Trait	Frequenza di osservazione
Decreased arm strength	A volte (5–29%)
Lower limb muscle weakness	A volte (5–29%)

Abnormality of the digestive system

Trait	Frequenza di osservazione
Nausea and vomiting	Spesso (30–79%)
Poor swallowing	A volte (5–29%)

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Abnormality on pulmonary function testing	Raramente (1–4%)
Progressive pulmonary function impairment	Raramente (1–4%)

Abnormal tissue mass

Trait	Frequenza di osservazione
Fibrosarcoma	Molto spesso (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Bleeding in brain	Raramente (1–4%)

Abnormality of the immune system

Trait	Frequenza di osservazione
Central nervous system infection	Non registrato

Abnormality of the thoracic cavity

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

Constitutional symptom

Trait	Frequenza di osservazione
Pain	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Obesity	A volte (5–29%)

Laboratory abnormality

Trait	Frequenza di osservazione
Abnormal circulating metabolite concentration	Non registrato

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

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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