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

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Decreased circulating ACTH concentration	Ofte (30–79 %)
Decreased circulating follicle stimulating hormone concentration	Ofte (30–79 %)
Decreased circulating luteinizing hormone level	Ofte (30–79 %)
Decreased serum estradiol	Ofte (30–79 %)
Decreased serum testosterone level	Ofte (30–79 %)
Hypogonadotropic hypogonadism	Ofte (30–79 %)
Increased circulating prolactin concentration	Ofte (30–79 %)
Low blood cortisol level	Ofte (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofte (30–79 %)
Secondary growth hormone deficiency	Ofte (30–79 %)
Abnormal hypothalamus physiology	Nogle gange (5–29 %)
Enlarged pituitary gland	Nogle gange (5–29 %)
Hypothalamic hypothyroidism	Nogle gange (5–29 %)
Neoplasm of the anterior pituitary	Nogle gange (5–29 %)
Reduced circulating prolactin concentration	Nogle gange (5–29 %)
Neoplasm of the posterior pituitary	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Bitemporal hemianopia	Ofte (30–79 %)
Abnormal kinetic perimetry test	Nogle gange (5–29 %)
Eye muscle paralysis	Nogle gange (5–29 %)
Oculomotor nerve palsy	Nogle gange (5–29 %)
Papilledema	Nogle gange (5–29 %)
Slow decrease in sharpness of vision	Nogle gange (5–29 %)
Visual acuity test abnormality	Nogle gange (5–29 %)
Weak extraocular muscles	Nogle gange (5–29 %)
Blindness	Sjældent (1–4%)
Bulging eye	Sjældent (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Basal ganglia calcification	Altid
Abnormal deposits of calcium in the brain	Ofte (30–79 %)
Cerebellar calcifications	Ofte (30–79 %)
Rigidity	Ofte (30–79 %)
Functional motor deficit	Nogle gange (5–29 %)
Muscle spasm	Nogle gange (5–29 %)
Tired easily	Nogle gange (5–29 %)
Back pain	Sjældent (1–4%)
Cerebellar dentate nucleus calcification	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Redness of skin or mucous membrane	Meget ofte (80–99 %)
High blood pressure	Nogle gange (5–29 %)
Fainting spell	Sjældent (1–4%)
Swollen lymph nodes	Sjældent (1–4%)
Calcification of the small brain vessels	Ikke registreret

Abnormality of the integument

Trait	Hvor ofte det ses
Firm lump under the skin	Meget ofte (80–99 %)
Skin cancer	Meget ofte (80–99 %)
Thickened skin	Meget ofte (80–99 %)
Open skin sore	Ofte (30–79 %)
Neurofibroma	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Expressionless face	Ofte (30–79 %)
Abnormality of the sense of smell	Nogle gange (5–29 %)
Bell's palsy	Nogle gange (5–29 %)
Neoplasm of the tongue	Sjældent (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Abnormal absence of menstruation	Ofte (30–79 %)
Difficulty getting a full erection	Ofte (30–79 %)
Urinary urgency	Nogle gange (5–29 %)
Loss of bladder control	Sjældent (1–4%)

Abnormality of the ear

Trait	Hvor ofte det ses
Dizziness	Ofte (30–79 %)
Ear pain	Sjældent (1–4%)
Ringing in ears	Sjældent (1–4%)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Chromosomal breakage induced by ionizing radiation	Meget ofte (80–99 %)
Increased sensitivity to ionizing radiation	Meget ofte (80–99 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Decreased arm strength	Nogle gange (5–29 %)
Lower limb muscle weakness	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Nausea and vomiting	Ofte (30–79 %)
Poor swallowing	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Abnormality on pulmonary function testing	Sjældent (1–4%)
Progressive pulmonary function impairment	Sjældent (1–4%)

Abnormal tissue mass

Trait	Hvor ofte det ses
Fibrosarcoma	Meget ofte (80–99 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Bleeding in brain	Sjældent (1–4%)

Abnormality of the immune system

Trait	Hvor ofte det ses
Central nervous system infection	Ikke registreret

Abnormality of the thoracic cavity

Trait	Hvor ofte det ses
Abnormal mediastinum morphology	Sjældent (1–4%)

Constitutional symptom

Trait	Hvor ofte det ses
Pain	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Obesity	Nogle gange (5–29 %)

Laboratory abnormality

Trait	Hvor ofte det ses
Abnormal circulating metabolite concentration	Ikke registreret

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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