GPI 앵커 생합성 장애
GPI 앵커를 만들고 부착하는 데 필요한 PIG, PGAP 및 관련 유전자의 변이로 발생하는 유전성 질환군입니다. 일반적으로 발달 지연, 근긴장 저하, 간질이 나타납니다.
다른 명칭
disorder of GPI anchor biosynthetic process; glycosylphosphatidylinositol biosynthesis defect; GPI anchor biosynthetic process disease; GPIBD
포함된 세부 유형
관련 하위 유형 27개 포함 ↓하위 유형 숨기기 ↑
- CHIME syndrome
- developmental and epileptic encephalopathy, 55
- developmental and epileptic encephalopathy, 77
- developmental and epileptic encephalopathy, 80
- glycosylphosphatidylinositol biosynthesis defect 15
- glycosylphosphatidylinositol biosynthesis defect 16
- glycosylphosphatidylinositol biosynthesis defect 17
- glycosylphosphatidylinositol biosynthesis defect 18
- glycosylphosphatidylinositol biosynthesis defect 25
- GM3 synthase deficiency
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- hyperphosphatasia with intellectual disability syndrome 1
- hyperphosphatasia with intellectual disability syndrome 2
- hyperphosphatasia with intellectual disability syndrome 3
- hyperphosphatasia with intellectual disability syndrome 4
- hyperphosphatasia with intellectual disability syndrome 5
- hyperphosphatasia with intellectual disability syndrome 6
- hyperphosphatasia-intellectual disability syndrome
- inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
- intellectual disability, autosomal recessive 53
- multiple congenital anomalies-hypotonia-seizures syndrome 1
- multiple congenital anomalies-hypotonia-seizures syndrome 2
- multiple congenital anomalies-hypotonia-seizures syndrome 3
- neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
- paroxysmal nocturnal hemoglobinuria
- paroxysmal nocturnal hemoglobinuria 1
- paroxysmal nocturnal hemoglobinuria 2
