Autosomal dominant hereditary chronic pancreatitis
ORPHA:676DiseaseAutosomal dominantAdolescent, Childhood
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CASR | calcium sensing receptor | Candidate gene tested in | gene with protein product | 601199 |
| PRSS1 | serine protease 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 276000 |
| PRSS2 | serine protease 2 | Candidate gene tested in | gene with protein product | 601564 |
| CTRC | chymotrypsin C | Candidate gene tested in | gene with protein product | 601405 |
| CPA1 | carboxypeptidase A1 | Major susceptibility factor in | gene with protein product | 114850 |
| TRPV6 | transient receptor potential cation channel subfamily V member 6 | Major susceptibility factor in | gene with protein product | 606680 |
Фенотипы (HPO)9
Очень частый (80–99%)4
HP:0001974Leukocytosis
HP:0002027Abdominal pain
HP:0011227Elevated circulating C-reactive protein concentration
HP:0100027Recurrent pancreatitis
Частый (30–79%)1
HP:0012379Abnormal enzyme/coenzyme activity
Периодический (5–29%)4
HP:0000819Diabetes mellitus
HP:0000952Jaundice
HP:0005213Pancreatic calcification
HP:0030247Splanchnic vein thrombosis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.57 | Denmark | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.43 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)