ALG12-CDG
ORPHA:79324DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)93
Облигатный (100%)1
HP:0012379Abnormal enzyme/coenzyme activity
Очень частый (80–99%)2
HP:0000119Abnormality of the genitourinary system
HP:0003256Abnormality of the coagulation cascade
Частый (30–79%)22
HP:0000253Progressive microcephaly
HP:0000750Delayed speech and language development
HP:0000759Abnormal peripheral nervous system morphology
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001929Reduced factor XI activity
HP:0002011Morphological central nervous system abnormality
HP:0002194Delayed gross motor development
HP:0002205Recurrent respiratory infections
HP:0002257Chronic rhinitis
HP:0003645Prolonged partial thromboplastin time
HP:0004855Reduced protein S activity
HP:0005543Reduced protein C activity
HP:0006532Recurrent pneumonia
HP:0008151Prolonged prothrombin time
HP:0010976Decreased total B cell count
HP:0011968Feeding difficulties
HP:0040246Reduced antithrombin antigen
HP:0100776Recurrent pharyngitis
HP:0410018Recurrent ear infections
HP:0410242Abnormal IgG level
Периодический (5–29%)57
HP:0001622Premature birth
HP:0001762Talipes equinovarus
HP:0001792Small nail
HP:0001852Sandal gap
HP:0001873Thrombocytopenia
HP:0001988Recurrent hypoglycemia
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002162Low posterior hairline
HP:0002389Cavum septum pellucidum
HP:0002650Scoliosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003026Short long bone
HP:0003049Ulnar deviation of the wrist
HP:0003073Hypoalbuminemia
HP:0003146Hypocholesterolemia
HP:0004209Clinodactyly of the 5th finger
HP:0009623Proximal placement of thumb
HP:0010557Overlapping fingers
HP:0011327Posterior plagiocephaly
HP:0011344Severe global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
HP:0011800Midface retrusion
HP:0011849Abnormal bone ossification
HP:0012385Camptodactyly
HP:0012448Delayed myelination
HP:0012766Widened cerebral subarachnoid space
HP:0030353Decreased serum insulin-like growth factor 1
HP:0100807Long fingers
HP:0410240Abnormal IgA level
HP:0410243Abnormal IgM level
HP:0410263Brain imaging abnormality
HP:0410295Complete or near-complete absence of specific antibody response to tetanus vaccine
HP:0410305Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000219Thin upper lip vermilion
HP:0000276Long face
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000478Abnormality of the eye
HP:0000486Strabismus
HP:0000541Retinal detachment
HP:0001250Seizure
HP:0001290Generalized hypotonia
HP:0001302Pachygyria
HP:0001321Cerebellar hypoplasia
HP:0001511Intrauterine growth retardation
HP:0001582Redundant skin
Очень редкий (1–4%)11
HP:0000969Edema
HP:0001561Polyhydramnios
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0002566Intestinal malrotation
HP:0002902Hyponatremia
HP:0003186Inverted nipples
HP:0009124Abnormal adipose tissue morphology
HP:0011623Muscular ventricular septal defect
HP:0100806Sepsis
HP:0200128Biventricular hypertrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)