Donohue syndrome
ORPHA:508Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)8
HP:0000855Insulin resistance
HP:0000962Hyperkeratosis
HP:0000998Hypertrichosis
HP:0003162Fasting hypoglycemia
HP:0003758Reduced subcutaneous adipose tissue
HP:0008846Severe intrauterine growth retardation
HP:0008897Postnatal growth retardation
HP:0011998Postprandial hyperglycemia
Частый (30–79%)18
HP:0000040Long penis
HP:0000065Labial hypertrophy
HP:0000105Enlarged kidney
HP:0000842Hyperinsulinemia
HP:0000956Acanthosis nigricans
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001639Hypertrophic cardiomyopathy
HP:0002219Facial hypertrichosis
HP:0002240Hepatomegaly
HP:0003202Skeletal muscle atrophy
HP:0003247Overgrowth of external genitalia
HP:0003270Abdominal distention
HP:0004325Decreased body weight
HP:0004405Prominent nipples
HP:0004914Recurrent infantile hypoglycemia
HP:0008665Clitoral hypertrophy
HP:0011344Severe global developmental delay
Периодический (5–29%)21
HP:0000121Nephrocalcinosis
HP:0000252Microcephaly
HP:0000307Pointed chin
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000445Wide nose
HP:0000848Increased circulating renin level
HP:0000859Hyperaldosteronism
HP:0000974Hyperextensible skin
HP:0001072Thickened skin
HP:0001176Large hands
HP:0001833Long foot
HP:0002035Rectal prolapse
HP:0002150Hypercalciuria
HP:0002900Hypokalemia
HP:0008936Axial hypotonia
HP:0011787Central hypothyroidism
HP:0012471Thick vermilion border
HP:0025024Megarectum
HP:0100879Enlarged ovaries
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.0006 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)