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Insulinoma

ORPHA:97279DiseaseNot applicableAll ages

Ассоциированные гены (2)

YY1
YY1 transcription factor
Disease-causing somatic mutation(s) in
OMIM: 600013
MEN1
menin 1
Major susceptibility factor in
OMIM: 613733

Фенотипы (34)

Очень частый (80–99%)11
HP:0000825Hyperinsulinemic hypoglycemia
HP:0000842Hyperinsulinemia
HP:0000975Hyperhidrosis
HP:0001250Seizure
HP:0001337Tremor
HP:0001958Nonketotic hypoglycemia
HP:0001962Palpitations
HP:0001988Recurrent hypoglycemia
HP:0006476Abnormality of the pancreatic islet cells
HP:0008283Fasting hyperinsulinemia
HP:0010534Transient global amnesia
Частый (30–79%)10
HP:0000708Atypical behavior
HP:0002044Zollinger-Ellison syndrome
HP:0002591Polyphagia
HP:0003324Generalized muscle weakness
HP:0004324Increased body weight
HP:0004372Reduced consciousness/confusion
HP:0006767Pituitary prolactin cell adenoma
HP:0007159Fluctuations in consciousness
HP:0008200Primary hyperparathyroidism
HP:0012051Reactive hypoglycemia
Периодический (5–29%)13
HP:0000364Hearing abnormality
HP:0000504Abnormality of vision
HP:0000739Anxiety
HP:0001254Lethargy
HP:0001259Coma
HP:0002494Abnormal rapid eye movement sleep
HP:0003401Paresthesia
HP:0010832Abnormality of pain sensation
HP:0011446Abnormality of higher mental function
HP:0012378Fatigue
HP:0100631Neoplasm of the adrenal gland
HP:0100634Neuroendocrine neoplasm
HP:0100785Insomnia

Эпидемиология (4)

Annual incidence
1-9 / 1 000 000
Ireland
Annual incidence
1-9 / 1 000 000
Worldwide
Point prevalence
1-9 / 1 000 000
Japan
Point prevalence
Unknown
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы