Familial papillary or follicular thyroid carcinoma
ORPHA:319487DiseaseNot applicableAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MINPP1 | multiple inositol-polyphosphate phosphatase 1 | Candidate gene tested in | gene with protein product | 605391 |
| FOXE1 | forkhead box E1 | Disease-causing germline mutation(s) in | gene with protein product | 602617 |
| HABP2 | hyaluronan binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 603924 |
Фенотипы (HPO)15
Очень частый (80–99%)4
HP:0005994Nodular goiter
HP:0006731Follicular thyroid carcinoma
HP:0012288Neoplasm of head and neck
HP:3000037Abnormality of neck blood vessel
Частый (30–79%)3
HP:0000853Goiter
HP:0002730Chronic noninfectious lymphadenopathy
HP:0002733Abnormality of the lymph nodes
Периодический (5–29%)8
HP:0002176Spinal cord compression
HP:0002653Bone pain
HP:0002757Recurrent fractures
HP:0002895Papillary thyroid carcinoma
HP:0003003Colon cancer
HP:0006528Chronic lung disease
HP:0006766Papillary renal cell carcinoma
HP:0012531Pain
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)