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 den forekommer
Intracranial meningioma	Svært 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	Noen ganger (5–29 %)
Abnormal central sensory function	Noen ganger (5–29 %)
Abnormal gait	Noen ganger (5–29 %)
Abnormal pyramidal sign	Noen ganger (5–29 %)
Abnormality of the cerebellum	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Chorea	Noen ganger (5–29 %)
Clumsiness	Noen ganger (5–29 %)
Cognitive impairment	Noen ganger (5–29 %)
Cranial nerve paralysis	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Difficulty articulating speech	Noen ganger (5–29 %)
Disorder of involuntary muscle movements	Noen ganger (5–29 %)
Dystonia	Noen ganger (5–29 %)
Global developmental delay	Noen ganger (5–29 %)
Impaired executive functioning	Noen ganger (5–29 %)
Involuntary movements	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Migraine	Noen ganger (5–29 %)
Parkinsonism	Noen ganger (5–29 %)
Poor concentration	Noen ganger (5–29 %)
Postural tremor	Noen ganger (5–29 %)
Rise in pressure inside skull	Noen ganger (5–29 %)
Slurred speech	Noen ganger (5–29 %)
Spinal meningioma	Noen ganger (5–29 %)
Thalamic calcification	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Trigeminal neuralgia	Noen ganger (5–29 %)
Unsteady walk	Noen ganger (5–29 %)
Weakness of one side of body	Noen ganger (5–29 %)
Abnormal speech pattern	Sjelden (1–4%)
Brain stem compression	Sjelden (1–4%)
Can't control feelings	Sjelden (1–4%)
Excessive daytime sleepiness	Sjelden (1–4%)
Hand tremor	Sjelden (1–4%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sjelden (1–4%)
Lack of feeling, emotion, interest	Sjelden (1–4%)
Motor tics	Sjelden (1–4%)
Spasms on one side of the face	Sjelden (1–4%)
Transient global amnesia	Sjelden (1–4%)
Balance impairment	Ikke registrert
Difficulty performing quick and alternating movements	Ikke registrert
Increased reflexes	Ikke registrert
Mental deterioration	Ikke registrert
Micrographia	Ikke registrert
Noncancerous growth of membranes covering brain	Ikke registrert
Uncoordinated limb movement	Ikke registrert

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
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	Noen ganger (5–29 %)
Enlarged pituitary gland	Noen ganger (5–29 %)
Hypothalamic hypothyroidism	Noen ganger (5–29 %)
Neoplasm of the anterior pituitary	Noen ganger (5–29 %)
Reduced circulating prolactin concentration	Noen ganger (5–29 %)
Neoplasm of the posterior pituitary	Sjelden (1–4%)

Abnormality of the eye

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

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Basal ganglia calcification	Alltid
Abnormal deposits of calcium in the brain	Ofte (30–79 %)
Cerebellar calcifications	Ofte (30–79 %)
Rigidity	Ofte (30–79 %)
Functional motor deficit	Noen ganger (5–29 %)
Muscle spasm	Noen ganger (5–29 %)
Tired easily	Noen ganger (5–29 %)
Back pain	Sjelden (1–4%)
Cerebellar dentate nucleus calcification	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Redness of skin or mucous membrane	Svært ofte (80–99 %)
High blood pressure	Noen ganger (5–29 %)
Fainting spell	Sjelden (1–4%)
Swollen lymph nodes	Sjelden (1–4%)
Calcification of the small brain vessels	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Firm lump under the skin	Svært ofte (80–99 %)
Skin cancer	Svært ofte (80–99 %)
Thickened skin	Svært ofte (80–99 %)
Open skin sore	Ofte (30–79 %)
Neurofibroma	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Expressionless face	Ofte (30–79 %)
Abnormality of the sense of smell	Noen ganger (5–29 %)
Bell's palsy	Noen ganger (5–29 %)
Neoplasm of the tongue	Sjelden (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormal absence of menstruation	Ofte (30–79 %)
Difficulty getting a full erection	Ofte (30–79 %)
Urinary urgency	Noen ganger (5–29 %)
Loss of bladder control	Sjelden (1–4%)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)
Ear pain	Sjelden (1–4%)
Ringing in ears	Sjelden (1–4%)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Chromosomal breakage induced by ionizing radiation	Svært ofte (80–99 %)
Increased sensitivity to ionizing radiation	Svært ofte (80–99 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Decreased arm strength	Noen ganger (5–29 %)
Lower limb muscle weakness	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Nausea and vomiting	Ofte (30–79 %)
Poor swallowing	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormality on pulmonary function testing	Sjelden (1–4%)
Progressive pulmonary function impairment	Sjelden (1–4%)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Fibrosarcoma	Svært ofte (80–99 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bleeding in brain	Sjelden (1–4%)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Central nervous system infection	Ikke registrert

Abnormality of the thoracic cavity

Trait	Hvor ofte den forekommer
Abnormal mediastinum morphology	Sjelden (1–4%)

Constitutional symptom

Trait	Hvor ofte den forekommer
Pain	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Obesity	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Abnormal circulating metabolite concentration	Ikke registrert

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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