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

Abnormality of the endocrine system

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

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Bitemporal hemianopia	Sık (%30–79)
Abnormal kinetic perimetry test	Bazen (%5–29)
Eye muscle paralysis	Bazen (%5–29)
Oculomotor nerve palsy	Bazen (%5–29)
Papilledema	Bazen (%5–29)
Slow decrease in sharpness of vision	Bazen (%5–29)
Visual acuity test abnormality	Bazen (%5–29)
Weak extraocular muscles	Bazen (%5–29)
Blindness	Seyrek (%1–4)
Bulging eye	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Basal ganglia calcification	Her zaman
Abnormal deposits of calcium in the brain	Sık (%30–79)
Cerebellar calcifications	Sık (%30–79)
Rigidity	Sık (%30–79)
Functional motor deficit	Bazen (%5–29)
Muscle spasm	Bazen (%5–29)
Tired easily	Bazen (%5–29)
Back pain	Seyrek (%1–4)
Cerebellar dentate nucleus calcification	Kaydedilmedi

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Redness of skin or mucous membrane	Çok sık (%80–99)
High blood pressure	Bazen (%5–29)
Fainting spell	Seyrek (%1–4)
Swollen lymph nodes	Seyrek (%1–4)
Calcification of the small brain vessels	Kaydedilmedi

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Firm lump under the skin	Çok sık (%80–99)
Skin cancer	Çok sık (%80–99)
Thickened skin	Çok sık (%80–99)
Open skin sore	Sık (%30–79)
Neurofibroma	Bazen (%5–29)

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Expressionless face	Sık (%30–79)
Abnormality of the sense of smell	Bazen (%5–29)
Bell's palsy	Bazen (%5–29)
Neoplasm of the tongue	Seyrek (%1–4)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Abnormal absence of menstruation	Sık (%30–79)
Difficulty getting a full erection	Sık (%30–79)
Urinary urgency	Bazen (%5–29)
Loss of bladder control	Seyrek (%1–4)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Dizziness	Sık (%30–79)
Ear pain	Seyrek (%1–4)
Ringing in ears	Seyrek (%1–4)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Chromosomal breakage induced by ionizing radiation	Çok sık (%80–99)
Increased sensitivity to ionizing radiation	Çok sık (%80–99)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Decreased arm strength	Bazen (%5–29)
Lower limb muscle weakness	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Nausea and vomiting	Sık (%30–79)
Poor swallowing	Bazen (%5–29)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormality on pulmonary function testing	Seyrek (%1–4)
Progressive pulmonary function impairment	Seyrek (%1–4)

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Fibrosarcoma	Çok sık (%80–99)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Bleeding in brain	Seyrek (%1–4)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Central nervous system infection	Kaydedilmedi

Abnormality of the thoracic cavity

Trait	Ne sıklıkla görüldüğü
Abnormal mediastinum morphology	Seyrek (%1–4)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Pain	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Obesity	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Abnormal circulating metabolite concentration	Kaydedilmedi

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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