Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ORPHA:79259Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)12
HP:0001510Growth delay
HP:0001538Protuberant abdomen
HP:0001943Hypoglycemia
HP:0002149Hyperuricemia
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0003077Hyperlipidemia
HP:0003124Hypercholesterolemia
HP:0003128Lactic acidosis
HP:0004322Short stature
HP:0006568Increased hepatic glycogen content
HP:0012379Abnormal enzyme/coenzyme activity
Частый (30–79%)17
HP:0000105Enlarged kidney
HP:0000147Polycystic ovaries
HP:0000293Full cheeks
HP:0000311Round face
HP:0000858Irregular menstruation
HP:0000939Osteoporosis
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001733Pancreatitis
HP:0002718Recurrent bacterial infections
HP:0010974Abnormal myeloid leukocyte morphology
HP:0100279Ulcerative colitis
HP:0100512Low levels of vitamin D
HP:0100646Thyroiditis
HP:0410252Chronic neutropenia
Периодический (5–29%)29
HP:0000093Proteinuria
HP:0000121Nephrocalcinosis
HP:0000132Menorrhagia
HP:0000155Oral ulcer
HP:0000230Gingivitis
HP:0000421Epistaxis
HP:0000670Carious teeth
HP:0000696Delayed eruption of permanent teeth
HP:0000704Periodontitis
HP:0000787Nephrolithiasis
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0000823Delayed puberty
HP:0000938Osteopenia
HP:0000978Bruising susceptibility
HP:0001114Xanthelasma
HP:0001892Abnormal bleeding
HP:0001903Anemia
HP:0002014Diarrhea
HP:0002037Inflammation of the large intestine
HP:0002173Hypoglycemic seizures
HP:0002659Increased susceptibility to fractures
HP:0004387Enterocolitis
HP:0005576Tubulointerstitial fibrosis
HP:0011890Prolonged bleeding following procedure
HP:0012028Hepatocellular adenoma
HP:0012146Abnormality of von Willebrand factor
HP:0030950Pulmonary venous hypertension
HP:0100543Cognitive impairment
Очень редкий (1–4%)3
HP:0001402Hepatocellular carcinoma
HP:0001997Gout
HP:0003774Stage 5 chronic kidney disease
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)