GPI Ankraj Biyosentezi Bozuklukları
GPI ankrajını üretmek ve bağlamak için gereken PIG, PGAP ve ilgili genlerdeki varyantların neden olduğu, tipik olarak gelişimsel gecikme, düşük kas tonusu ve epilepsiyle seyreden kalıtsal durumlar grubu.
Analiz edilen genler
Diğer adları
disorder of GPI anchor biosynthetic process; glycosylphosphatidylinositol biosynthesis defect; GPI anchor biosynthetic process disease; GPIBD
Kapsanan özgül formlar
27 ilgili alt tip içerir ↓Alt tipleri gizle ↑
- 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
