Methylcobalamin deficiency type cblE
ORPHA:2169Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0001980Megaloblastic bone marrow
HP:0002160Hyperhomocystinemia
Частый (30–79%)20
HP:0000252Microcephaly
HP:0000478Abnormality of the eye
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001972Macrocytic anemia
HP:0002013Vomiting
HP:0002167Abnormality of speech or vocalization
HP:0002329Drowsiness
HP:0002500Abnormal cerebral white matter morphology
HP:0003658Hypomethioninemia
HP:0005518Increased mean corpuscular volume
HP:0007185Loss of consciousness
HP:0008897Postnatal growth retardation
HP:0011344Severe global developmental delay
HP:0011968Feeding difficulties
HP:0012444Brain atrophy
HP:0100022Abnormality of movement
Периодический (5–29%)27
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000708Atypical behavior
HP:0000822Hypertension
HP:0000924Abnormality of the skeletal system
HP:0000939Osteoporosis
HP:0001159Syndactyly
HP:0001254Lethargy
HP:0001262Excessive daytime somnolence
HP:0001392Abnormality of the liver
HP:0001626Abnormality of the cardiovascular system
HP:0001875Decreased total neutrophil count
HP:0001876Pancytopenia
HP:0001907Thromboembolism
HP:0002119Ventriculomegaly
HP:0002365Hypoplasia of the brainstem
HP:0002625Deep venous thrombosis
HP:0002650Scoliosis
HP:0005575Hemolytic-uremic syndrome
HP:0006895Lower limb hypertonia
HP:0009830Peripheral neuropathy
HP:0012448Delayed myelination
HP:0012704Widened subarachnoid space
HP:0030084Clinodactyly
HP:0100820Glomerulopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 27 | 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)