Lynch syndrome
ORPHA:144DiseaseAutosomal dominantAdult
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MSH6 | mutS homolog 6 | Disease-causing germline mutation(s) in | gene with protein product | 600678 |
| KRAS | KRAS proto-oncogene, GTPase | Biomarker tested in | gene with protein product | 190070 |
| PMS1 | PMS1 homolog 1, mismatch repair system component | Candidate gene tested in | gene with protein product | 600258 |
| TGFBR2 | transforming growth factor beta receptor 2 | Candidate gene tested in | gene with protein product | 190182 |
| MSH2 | mutS homolog 2 | Disease-causing germline mutation(s) in | gene with protein product | 609309 |
| EPCAM | epithelial cell adhesion molecule | Disease-causing germline mutation(s) in | gene with protein product | 185535 |
| PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Biomarker tested in | gene with protein product | 171834 |
| PMS2 | PMS1 homolog 2, mismatch repair system component | Disease-causing germline mutation(s) in | gene with protein product | 600259 |
| MLH1 | mutL homolog 1 | Disease-causing germline mutation(s) in | gene with protein product | 120436 |
Фенотипы (HPO)62
Очень частый (80–99%)9
HP:0001824Weight loss
HP:0002019Constipation
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0008069Neoplasm of the skin
HP:0009720Adenoma sebaceum
HP:0012174Glioblastoma multiforme
HP:0012378Fatigue
Частый (30–79%)16
HP:0003003Colon cancer
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001522Death in infancy
HP:0002017Nausea and vomiting
HP:0002076Migraine
HP:0002516Increased intracranial pressure
HP:0006753Neoplasm of the stomach
HP:0007018Attention deficit hyperactivity disorder
HP:0100613Death in early adulthood
HP:0100743Neoplasm of the rectum
Периодический (5–29%)37
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:0002896Neoplasm of the liver
HP:0003002Breast carcinoma
HP:0003006Neuroblastoma
HP:0003401Paresthesia
HP:0004374Hemiplegia/hemiparesis
HP:0004377Hematological neoplasm
HP:0006725Pancreatic adenocarcinoma
HP:0006758Malignant genitourinary tract tumor
HP:0007256Abnormal pyramidal sign
HP:0009726Renal neoplasm
HP:0010524Agnosia
HP:0010526Dysgraphia
HP:0010622Neoplasm of the skeletal system
HP:0010786Urinary tract neoplasm
HP:0012114Endometrial carcinoma
HP:0012118Laryngeal carcinoma
HP:0100031Neoplasm of the thyroid gland
HP:0100571Cardiac diverticulum
HP:0100576Amaurosis fugax
HP:0100615Ovarian neoplasm
HP:0100660Dyskinesia
HP:0100684Salivary gland neoplasm
HP:0100835Benign neoplasm of the central nervous system
HP:0200008Intestinal polyposis
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)