Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
ORPHA:505248Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)71
Очень частый (80–99%)10
HP:0000093Proteinuria
HP:0000280Coarse facial features
HP:0000943Dysostosis multiplex
HP:0001263Global developmental delay
HP:0001371Flexion contracture
HP:0001433Hepatosplenomegaly
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0002086Abnormality of the respiratory system
HP:0002205Recurrent respiratory infections
Частый (30–79%)22
HP:0000100Nephrotic syndrome
HP:0000158Macroglossia
HP:0000648Optic atrophy
HP:0001072Thickened skin
HP:0001265Hyporeflexia
HP:0001344Absent speech
HP:0001387Joint stiffness
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001643Patent ductus arteriosus
HP:0001649Tachycardia
HP:0001882Leukopenia
HP:0002092Pulmonary arterial hypertension
HP:0002098Respiratory distress
HP:0002159Heparan sulfate excretion in urine
HP:0002540Inability to walk
HP:0003073Hypoalbuminemia
HP:0003541Urinary glycosaminoglycan excretion
HP:0006536Airway obstruction
HP:0031123Recurrent gastroenteritis
Периодический (5–29%)39
HP:0000105Enlarged kidney
HP:0000238Hydrocephalus
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000470Short neck
HP:0000506Telecanthus
HP:0000509Conjunctivitis
HP:0000527Long eyelashes
HP:0000629Periorbital fullness
HP:0000639Nystagmus
HP:0000768Pectus carinatum
HP:0000998Hypertrichosis
HP:0001252Hypotonia
HP:0001552Barrel-shaped chest
HP:0001653Mitral regurgitation
HP:0001655Patent foramen ovale
HP:0001928Abnormality of coagulation
HP:0002514Cerebral calcification
HP:0002652Skeletal dysplasia
HP:0002938Lumbar hyperlordosis
HP:0002942Thoracic kyphosis
HP:0003196Short nose
HP:0003496Increased circulating IgM level
HP:0004315Decreased circulating IgG level
HP:0005180Tricuspid regurgitation
HP:0005528Bone marrow hypocellularity
HP:0006191Deep palmar crease
HP:0007703Abnormality of retinal pigmentation
HP:0008454Lumbar kyphosis
HP:0010307Stridor
HP:0011220Prominent forehead
HP:0012444Brain atrophy
HP:0012448Delayed myelination
HP:0012471Thick vermilion border
HP:0012597Heavy proteinuria
HP:0100790Hernia
HP:0100806Sepsis
HP:0100874Thick hair
HP:0410263Brain imaging abnormality
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)