Familial colorectal cancer Type X
ORPHA:440437DiseaseAutosomal dominantAdult, Elderly
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BMPR1A | bone morphogenetic protein receptor type 1A | Disease-causing germline mutation(s) in | gene with protein product | 601299 |
| NPAT | nuclear protein, coactivator of histone transcription | Disease-causing germline mutation(s) in | gene with protein product | 601448 |
| MUTYH | mutY DNA glycosylase | Disease-causing germline mutation(s) in | gene with protein product | 604933 |
| SEMA4A | semaphorin 4A | Disease-causing germline mutation(s) in | gene with protein product | 607292 |
| RPS20 | ribosomal protein S20 | Disease-causing germline mutation(s) in | gene with protein product | 603682 |
| POLE | DNA polymerase epsilon, catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 174762 |
| POLD1 | DNA polymerase delta 1, catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 174761 |
| BRCA2 | BRCA2 DNA repair associated | Disease-causing germline mutation(s) in | gene with protein product | 600185 |
| ATM | ATM serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 607585 |
| CHEK2 | checkpoint kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 604373 |
Фенотипы (HPO)53
Очень частый (80–99%)6
HP:0001824Weight loss
HP:0002019Constipation
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0012174Glioblastoma multiforme
HP:0012378Fatigue
Частый (30–79%)13
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0002017Nausea and vomiting
HP:0002076Migraine
HP:0002239Gastrointestinal hemorrhage
HP:0002516Increased intracranial pressure
HP:0007018Attention deficit hyperactivity disorder
HP:0100743Neoplasm of the rectum
Периодический (5–29%)29
HP:0000505Visual impairment
HP:0000738Hallucinations
HP:0001123Visual field defect
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001402Hepatocellular carcinoma
HP:0002167Abnormality of speech or vocalization
HP:0002354Memory impairment
HP:0002376Developmental regression
HP:0002671Basal cell carcinoma
HP:0002893Pituitary adenoma
HP:0002894Neoplasm of the pancreas
HP:0003006Neuroblastoma
HP:0003401Paresthesia
HP:0004374Hemiplegia/hemiparesis
HP:0006725Pancreatic adenocarcinoma
HP:0007256Abnormal pyramidal sign
HP:0010524Agnosia
HP:0010526Dysgraphia
HP:0010622Neoplasm of the skeletal system
HP:0010786Urinary tract neoplasm
HP:0012113Abnormality of creatine metabolism
HP:0100031Neoplasm of the thyroid gland
HP:0100273Neoplasm of the colon
HP:0100571Cardiac diverticulum
HP:0100576Amaurosis fugax
HP:0100660Dyskinesia
HP:0100835Benign neoplasm of the central nervous system
Очень редкий (1–4%)2
HP:0010784Uterine neoplasm
HP:0012126Stomach cancer
Исключён (0%)3
HP:0009726Renal neoplasm
HP:0100013Neoplasm of the breast
HP:0100615Ovarian neoplasm
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)