Methylmalonic acidemia with homocystinuria, type cblC
ORPHA:79282Clinical subtypeAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)76
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001889Megaloblastic anemia
HP:0002160Hyperhomocystinemia
HP:0002912Methylmalonic acidemia
HP:0012120Methylmalonic aciduria
HP:0031544Elevated propionylcarnitine level
Частый (30–79%)15
HP:0000206Glossitis
HP:0000252Microcephaly
HP:0000505Visual impairment
HP:0000546Retinal degeneration
HP:0000580Pigmentary retinopathy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001116Macular coloboma
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001873Thrombocytopenia
HP:0008002Abnormality of macular pigmentation
HP:0010280Stomatitis
HP:0011968Feeding difficulties
HP:0100820Glomerulopathy
Периодический (5–29%)39
HP:0000083Renal insufficiency
HP:0000707Abnormality of the nervous system
HP:0000708Atypical behavior
HP:0000751Personality changes
HP:0000952Jaundice
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001268Mental deterioration
HP:0001298Encephalopathy
HP:0001511Intrauterine growth retardation
HP:0001627Abnormal heart morphology
HP:0001644Dilated cardiomyopathy
HP:0001789Hydrops fetalis
HP:0001875Decreased total neutrophil count
HP:0001907Thromboembolism
HP:0001943Hypoglycemia
HP:0001944Dehydration
HP:0001987Hyperammonemia
HP:0002045Hypothermia
HP:0002059Cerebral atrophy
HP:0002092Pulmonary arterial hypertension
HP:0002098Respiratory distress
HP:0002167Abnormality of speech or vocalization
HP:0002352Leukoencephalopathy
HP:0002354Memory impairment
HP:0002625Deep venous thrombosis
HP:0002919Ketonuria
HP:0003658Hypomethioninemia
HP:0006827Atrophy of the spinal cord
HP:0007010Poor fine motor coordination
HP:0008765Auditory hallucinations
HP:0011096Peripheral demyelination
HP:0012469Infantile spasms
HP:0012758Neurodevelopmental delay
HP:0030891Periventricular white matter hyperintensities
HP:0033051Impaired executive functioning
HP:0100309Subdural hemorrhage
Очень редкий (1–4%)16
HP:0000238Hydrocephalus
HP:0000276Long face
HP:0000319Smooth philtrum
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000709Psychosis
HP:0000726Dementia
HP:0001297Stroke
HP:0001942Metabolic acidosis
HP:0001999Abnormal facial shape
HP:0002204Pulmonary embolism
HP:0002376Developmental regression
HP:0005575Hemolytic-uremic syndrome
HP:0007258Severe demyelination of the white matter
HP:0012443Abnormality of brain morphology
HP:0031258Delirium
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)