MODY
ORPHA:552DiseaseAutosomal dominant, Not applicableAdolescent, Adult, Childhood
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | Disease-causing germline mutation(s) in | gene with protein product | 600509 |
| CEL | carboxyl ester lipase | Disease-causing germline mutation(s) in | gene with protein product | 114840 |
| GCK | glucokinase | Disease-causing germline mutation(s) in | gene with protein product | 138079 |
| HNF4A | hepatocyte nuclear factor 4 alpha | Disease-causing germline mutation(s) in | gene with protein product | 600281 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | Disease-causing germline mutation(s) in | gene with protein product | 600937 |
| KLF11 | KLF transcription factor 11 | Disease-causing germline mutation(s) in | gene with protein product | 603301 |
| NEUROD1 | neuronal differentiation 1 | Disease-causing germline mutation(s) in | gene with protein product | 601724 |
| PDX1 | pancreatic and duodenal homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 600733 |
| HNF1A | HNF1 homeobox A | Disease-causing germline mutation(s) in | gene with protein product | 142410 |
| INS | insulin | Disease-causing germline mutation(s) in | gene with protein product | 176730 |
| PAX4 | paired box 4 | Disease-causing germline mutation(s) in | gene with protein product | 167413 |
| BLK | BLK proto-oncogene, Src family tyrosine kinase | Disease-causing germline mutation(s) in | gene with protein product | 191305 |
| APPL1 | adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604299 |
Фенотипы (HPO)27
Частый (30–79%)8
HP:0001952Glucose intolerance
HP:0003074Hyperglycemia
HP:0003076Glycosuria
HP:0004924Abnormal oral glucose tolerance
HP:0030794Abnormal C-peptide level
HP:0040214Abnormal circulating insulin concentration
HP:0040216Hypoinsulinemia
HP:0040217Elevated hemoglobin A1c
Периодический (5–29%)9
HP:0000112Nephropathy
HP:0000488Retinopathy
HP:0000825Hyperinsulinemic hypoglycemia
HP:0000831Insulin-resistant diabetes mellitus
HP:0001511Intrauterine growth retardation
HP:0001520Large for gestational age
HP:0001998Neonatal hypoglycemia
HP:0008255Transient neonatal diabetes mellitus
HP:0025502Overweight
Очень редкий (1–4%)7
HP:0000077Abnormality of the kidney
HP:0000107Renal cyst
HP:0000119Abnormality of the genitourinary system
HP:0001513Obesity
HP:0001738Exocrine pancreatic insufficiency
HP:0002594Pancreatic hypoplasia
HP:0012028Hepatocellular adenoma
Исключён (0%)3
HP:0000956Acanthosis nigricans
HP:0001953Diabetic ketoacidosis
HP:0030057Autoimmune antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Point prevalence | 1-5 / 10 000 | 10 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)