Chédiak-Higashi syndrome
ORPHA:167DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)76
Очень частый (80–99%)8
HP:0001010Hypopigmentation of the skin
HP:0001881Abnormal leukocyte morphology
HP:0001922Vacuolated lymphocytes
HP:0002718Recurrent bacterial infections
HP:0002719Recurrent infections
HP:0012145Abnormality of multiple cell lineages in the bone marrow
HP:0012156Hemophagocytosis
HP:0031408Increased proportion of CD25+ mast cells
Частый (30–79%)24
HP:0000613Photophobia
HP:0000704Periodontitis
HP:0000978Bruising susceptibility
HP:0000992Cutaneous photosensitivity
HP:0001410Decreased liver function
HP:0001433Hepatosplenomegaly
HP:0001583Rotary nystagmus
HP:0001744Splenomegaly
HP:0001892Abnormal bleeding
HP:0001945Fever
HP:0002205Recurrent respiratory infections
HP:0002721Immunodeficiency
HP:0003281Increased circulating ferritin concentration
HP:0004527Large clumps of pigment irregularly distributed along hair shaft
HP:0005406Recurrent bacterial skin infections
HP:0005599Hypopigmentation of hair
HP:0007499Recurrent staphylococcal infections
HP:0007663Reduced visual acuity
HP:0007703Abnormality of retinal pigmentation
HP:0007730Iris hypopigmentation
HP:0011869Abnormal platelet function
HP:0011990Abnormality of neutrophil physiology
HP:0012176Abnormal natural killer cell morphology
HP:0020096Recurrent streptococcal infections
Периодический (5–29%)43
HP:0000225Gingival bleeding
HP:0000421Epistaxis
HP:0000486Strabismus
HP:0000666Horizontal nystagmus
HP:0000707Abnormality of the nervous system
HP:0000726Dementia
HP:0000762Decreased nerve conduction velocity
HP:0000763Sensory neuropathy
HP:0000952Jaundice
HP:0000969Edema
HP:0000988Skin rash
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001258Spastic paraplegia
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001300Parkinsonism
HP:0001324Muscle weakness
HP:0001328Specific learning disability
HP:0001337Tremor
HP:0001698Pericardial effusion
HP:0001873Thrombocytopenia
HP:0001875Decreased total neutrophil count
HP:0001876Pancytopenia
HP:0001903Anemia
HP:0002155Hypertriglyceridemia
HP:0002202Pleural effusion
HP:0002540Inability to walk
HP:0002716Lymphadenopathy
HP:0002902Hyponatremia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003075Hypoproteinemia
HP:0003474Somatic sensory dysfunction
HP:0006308Atrophy of alveolar ridges
HP:0006824Cranial nerve paralysis
HP:0006827Atrophy of the spinal cord
HP:0007178Motor polyneuropathy
HP:0009830Peripheral neuropathy
HP:0011900Hypofibrinogenemia
HP:0012444Brain atrophy
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0100543Cognitive impairment
Очень редкий (1–4%)1
HP:0005585Spotty hyperpigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | 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)