Peripheral primitive neuroectodermal tumor
ORPHA:370348DiseaseNot applicableAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)37
Облигатный (100%)1
HP:0030067Peripheral primitive neuroectodermal neoplasm
Периодический (5–29%)30
HP:0000473Torticollis
HP:0000952Jaundice
HP:0000989Pruritus
HP:0001250Seizure
HP:0001265Hyporeflexia
HP:0001541Ascites
HP:0001733Pancreatitis
HP:0001824Weight loss
HP:0001892Abnormal bleeding
HP:0001903Anemia
HP:0001965Abnormality of the scalp
HP:0002017Nausea and vomiting
HP:0002039Anorexia
HP:0002315Headache
HP:0002321Vertigo
HP:0002574Episodic abdominal pain
HP:0002894Neoplasm of the pancreas
HP:0003270Abdominal distention
HP:0003418Back pain
HP:0003474Somatic sensory dysfunction
HP:0007340Lower limb muscle weakness
HP:0010302Spinal cord tumor
HP:0010784Uterine neoplasm
HP:0012513Upper limb pain
HP:0030692Brain neoplasm
HP:0031030Elevated carcinoma antigen 125 level
HP:0031501Pelvic mass
HP:0100608Metrorrhagia
HP:0100615Ovarian neoplasm
HP:0100711Abnormality of the thoracic spine
Очень редкий (1–4%)6
HP:0000520Proptosis
HP:0000826Precocious puberty
HP:0006254Elevated alpha-fetoprotein
HP:0011932Abnormality of the superior cerebellar peduncle
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0100849Neoplasm of the scrotum
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)