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

Abnormality of the endocrine system

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

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Bitemporal hemianopia	Vaak (30–79%)
Abnormal kinetic perimetry test	Soms (5–29%)
Eye muscle paralysis	Soms (5–29%)
Oculomotor nerve palsy	Soms (5–29%)
Papilledema	Soms (5–29%)
Slow decrease in sharpness of vision	Soms (5–29%)
Visual acuity test abnormality	Soms (5–29%)
Weak extraocular muscles	Soms (5–29%)
Blindness	Zelden (1–4%)
Bulging eye	Zelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Basal ganglia calcification	Altijd
Abnormal deposits of calcium in the brain	Vaak (30–79%)
Cerebellar calcifications	Vaak (30–79%)
Rigidity	Vaak (30–79%)
Functional motor deficit	Soms (5–29%)
Muscle spasm	Soms (5–29%)
Tired easily	Soms (5–29%)
Back pain	Zelden (1–4%)
Cerebellar dentate nucleus calcification	Niet vastgelegd

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Redness of skin or mucous membrane	Heel vaak (80–99%)
High blood pressure	Soms (5–29%)
Fainting spell	Zelden (1–4%)
Swollen lymph nodes	Zelden (1–4%)
Calcification of the small brain vessels	Niet vastgelegd

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Firm lump under the skin	Heel vaak (80–99%)
Skin cancer	Heel vaak (80–99%)
Thickened skin	Heel vaak (80–99%)
Open skin sore	Vaak (30–79%)
Neurofibroma	Soms (5–29%)

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Expressionless face	Vaak (30–79%)
Abnormality of the sense of smell	Soms (5–29%)
Bell's palsy	Soms (5–29%)
Neoplasm of the tongue	Zelden (1–4%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormal absence of menstruation	Vaak (30–79%)
Difficulty getting a full erection	Vaak (30–79%)
Urinary urgency	Soms (5–29%)
Loss of bladder control	Zelden (1–4%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Dizziness	Vaak (30–79%)
Ear pain	Zelden (1–4%)
Ringing in ears	Zelden (1–4%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Chromosomal breakage induced by ionizing radiation	Heel vaak (80–99%)
Increased sensitivity to ionizing radiation	Heel vaak (80–99%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Decreased arm strength	Soms (5–29%)
Lower limb muscle weakness	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Nausea and vomiting	Vaak (30–79%)
Poor swallowing	Soms (5–29%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Abnormality on pulmonary function testing	Zelden (1–4%)
Progressive pulmonary function impairment	Zelden (1–4%)

Abnormal tissue mass

Trait	Hoe vaak het voorkomt
Fibrosarcoma	Heel vaak (80–99%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Bleeding in brain	Zelden (1–4%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Central nervous system infection	Niet vastgelegd

Abnormality of the thoracic cavity

Trait	Hoe vaak het voorkomt
Abnormal mediastinum morphology	Zelden (1–4%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Pain	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Obesity	Soms (5–29%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Abnormal circulating metabolite concentration	Niet vastgelegd

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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