Congenital generalized lipodystrophy
ORPHA:528DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)5
HP:0000855Insulin resistance
HP:0002240Hepatomegaly
HP:0003712Skeletal muscle hypertrophy
HP:0008887Adipose tissue loss
HP:0009125Lipodystrophy
Частый (30–79%)4
HP:0000819Diabetes mellitus
HP:0000998Hypertrichosis
HP:0001249Intellectual disability
HP:0002155Hypertriglyceridemia
Периодический (5–29%)24
HP:0000158Macroglossia
HP:0000294Low anterior hairline
HP:0000303Mandibular prognathia
HP:0000336Prominent supraorbital ridges
HP:0000842Hyperinsulinemia
HP:0000956Acanthosis nigricans
HP:0001015Prominent superficial veins
HP:0001176Large hands
HP:0001263Global developmental delay
HP:0001394Cirrhosis
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001833Long foot
HP:0001999Abnormal facial shape
HP:0002162Low posterior hairline
HP:0003124Hypercholesterolemia
HP:0003247Overgrowth of external genitalia
HP:0005616Accelerated skeletal maturation
HP:0008665Clitoral hypertrophy
HP:0011407Proportionate tall stature
HP:0012062Bone cyst
HP:0030796Increased C-peptide level
Очень редкий (1–4%)4
HP:0000141Amenorrhea
HP:0000147Polycystic ovaries
HP:0000876Oligomenorrhea
HP:0010465Precocious puberty in females
Эпидемиология10
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.01 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.86 | Peru | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | Norway | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Lebanon | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4 | Oman | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.6812 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | 0.05 | Turkey | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.23 | Brazil | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)