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

Abnormality of the endocrine system

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

Abnormality of the eye

Trait	나타나는 빈도
Bitemporal hemianopia	자주 (30–79%)
Abnormal kinetic perimetry test	가끔 (5–29%)
Eye muscle paralysis	가끔 (5–29%)
Oculomotor nerve palsy	가끔 (5–29%)
Papilledema	가끔 (5–29%)
Slow decrease in sharpness of vision	가끔 (5–29%)
Visual acuity test abnormality	가끔 (5–29%)
Weak extraocular muscles	가끔 (5–29%)
Blindness	드물게 (1–4%)
Bulging eye	드물게 (1–4%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Basal ganglia calcification	항상
Abnormal deposits of calcium in the brain	자주 (30–79%)
Cerebellar calcifications	자주 (30–79%)
Rigidity	자주 (30–79%)
Functional motor deficit	가끔 (5–29%)
Muscle spasm	가끔 (5–29%)
Tired easily	가끔 (5–29%)
Back pain	드물게 (1–4%)
Cerebellar dentate nucleus calcification	기록되지 않음

Abnormality of the cardiovascular system

Trait	나타나는 빈도
Redness of skin or mucous membrane	매우 자주 (80–99%)
High blood pressure	가끔 (5–29%)
Fainting spell	드물게 (1–4%)
Swollen lymph nodes	드물게 (1–4%)
Calcification of the small brain vessels	기록되지 않음

Abnormality of the integument

Trait	나타나는 빈도
Firm lump under the skin	매우 자주 (80–99%)
Skin cancer	매우 자주 (80–99%)
Thickened skin	매우 자주 (80–99%)
Open skin sore	자주 (30–79%)
Neurofibroma	가끔 (5–29%)

Abnormality of head or neck

Trait	나타나는 빈도
Expressionless face	자주 (30–79%)
Abnormality of the sense of smell	가끔 (5–29%)
Bell's palsy	가끔 (5–29%)
Neoplasm of the tongue	드물게 (1–4%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Abnormal absence of menstruation	자주 (30–79%)
Difficulty getting a full erection	자주 (30–79%)
Urinary urgency	가끔 (5–29%)
Loss of bladder control	드물게 (1–4%)

Abnormality of the ear

Trait	나타나는 빈도
Dizziness	자주 (30–79%)
Ear pain	드물게 (1–4%)
Ringing in ears	드물게 (1–4%)

Abnormal cellular phenotype

Trait	나타나는 빈도
Chromosomal breakage induced by ionizing radiation	매우 자주 (80–99%)
Increased sensitivity to ionizing radiation	매우 자주 (80–99%)

Abnormality of limbs

Trait	나타나는 빈도
Decreased arm strength	가끔 (5–29%)
Lower limb muscle weakness	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Nausea and vomiting	자주 (30–79%)
Poor swallowing	가끔 (5–29%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Abnormality on pulmonary function testing	드물게 (1–4%)
Progressive pulmonary function impairment	드물게 (1–4%)

Abnormal tissue mass

Trait	나타나는 빈도
Fibrosarcoma	매우 자주 (80–99%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bleeding in brain	드물게 (1–4%)

Abnormality of the immune system

Trait	나타나는 빈도
Central nervous system infection	기록되지 않음

Abnormality of the thoracic cavity

Trait	나타나는 빈도
Abnormal mediastinum morphology	드물게 (1–4%)

Constitutional symptom

Trait	나타나는 빈도
Pain	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Obesity	가끔 (5–29%)

Laboratory abnormality

Trait	나타나는 빈도
Abnormal circulating metabolite concentration	기록되지 않음

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

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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