3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
ORPHA:445038DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)6
HP:0000107Renal cyst
HP:0000121Nephrocalcinosis
HP:0000518Cataract
HP:0001875Decreased total neutrophil count
HP:00035353-Methylglutaconic aciduria
HP:0011451Congenital microcephaly
Частый (30–79%)21
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001266Choreoathetosis
HP:0001272Cerebellar atrophy
HP:0001298Encephalopathy
HP:0001336Myoclonus
HP:0001347Hyperreflexia
HP:0001510Growth delay
HP:0002059Cerebral atrophy
HP:0002071Abnormality of extrapyramidal motor function
HP:0002134Abnormality of the basal ganglia
HP:0002151Increased circulating lactate concentration
HP:0002179Opisthotonus
HP:0002194Delayed gross motor development
HP:0002376Developmental regression
HP:0005528Bone marrow hypocellularity
HP:0007153Progressive extrapyramidal movement disorder
HP:0007256Abnormal pyramidal sign
HP:0011968Feeding difficulties
HP:0410256Infection associated neutropenia
Периодический (5–29%)10
HP:0000083Renal insufficiency
HP:0000639Nystagmus
HP:0000821Hypothyroidism
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001397Hepatic steatosis
HP:0001638Cardiomyopathy
HP:0001998Neonatal hypoglycemia
HP:0002878Respiratory failure
HP:0002910Elevated circulating hepatic transaminase concentration
Очень редкий (1–4%)1
HP:0002107Pneumothorax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)