Griscelli syndrome
ORPHA:381DiseaseAutosomal recessiveChildhood, Infancy
Фенотипы (HPO)36
Очень частый (80–99%)4
HP:0001053Hypopigmented skin patches
HP:0002216Premature graying of hair
HP:0002218Silver-gray hair
HP:0011364White hair
Частый (30–79%)8
HP:0001315Reduced tendon reflexes
HP:0001873Thrombocytopenia
HP:0001874Abnormality of neutrophils
HP:0001882Leukopenia
HP:0002716Lymphadenopathy
HP:0002721Immunodeficiency
HP:0003119Abnormal circulating lipid concentration
HP:0004313Decreased circulating antibody level
Периодический (5–29%)24
HP:0000238Hydrocephalus
HP:0000499Abnormal eyelash morphology
HP:0000534Abnormal eyebrow morphology
HP:0000639Nystagmus
HP:0000952Jaundice
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001541Ascites
HP:0001744Splenomegaly
HP:0001945Fever
HP:0002021Pyloric stenosis
HP:0002084Encephalocele
HP:0002240Hepatomegaly
HP:0004322Short stature
HP:0005528Bone marrow hypocellularity
HP:0006824Cranial nerve paralysis
HP:0007730Iris hypopigmentation
HP:0010741Pedal edema
HP:0012115Hepatitis
HP:0100022Abnormality of movement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | 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)