Leukocyte adhesion deficiency type II
ORPHA:99843Clinical subtypeAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)58
Очень частый (80–99%)8
HP:0000280Coarse facial features
HP:0001508Failure to thrive
HP:0001903Anemia
HP:0001974Leukocytosis
HP:0002719Recurrent infections
HP:0004322Short stature
HP:0011897Neutrophilia
HP:0410292Abnormal isohemagglutinin level
Частый (30–79%)9
HP:0001250Seizure
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001935Microcytic anemia
HP:0001954Recurrent fever
HP:0002059Cerebral atrophy
HP:0002360Sleep abnormality
HP:0010864Intellectual disability, severe
HP:0000729Autistic behavior
Периодический (5–29%)41
HP:0000010Recurrent urinary tract infections
HP:0000166Severe periodontitis
HP:0000189Narrow palate
HP:0000212Gingival overgrowth
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000385Small earlobe
HP:0000403Recurrent otitis media
HP:0000405Conductive hearing impairment
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000491Keratitis
HP:0000527Long eyelashes
HP:0001169Broad palm
HP:0001251Ataxia
HP:0001290Generalized hypotonia
HP:0001347Hyperreflexia
HP:0001537Umbilical hernia
HP:0001845Overlapping toe
HP:0002002Deep philtrum
HP:0002028Chronic diarrhea
HP:0002240Hepatomegaly
HP:0005280Depressed nasal bridge
HP:0006480Premature loss of teeth
HP:0006532Recurrent pneumonia
HP:0006895Lower limb hypertonia
HP:0007041Chronic lymphocytic meningitis
HP:0007333Hypoplasia of the frontal lobes
HP:0008551Microtia
HP:0009826Limb undergrowth
HP:0010808Protruding tongue
HP:0011229Broad eyebrow
HP:0011341Long upper lip
HP:0020045Esodeviation
HP:0031123Recurrent gastroenteritis
HP:0031629Impaired tandem gait
HP:0100540Palpebral edema
HP:0100699Scarring
HP:0200037Skin vesicle
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)