Zaburzenia biosyntezy kotwicy GPI
Grupa dziedzicznych schorzeń wywoływanych wariantami w genach PIG, PGAP i pokrewnych, niezbędnych do wytworzenia i przyłączenia kotwicy GPI, zwykle prowadzących do opóźnienia rozwoju, obniżonego napięcia mięśniowego i padaczki.
Przeanalizowane geny
Znana również jako
disorder of GPI anchor biosynthetic process; glycosylphosphatidylinositol biosynthesis defect; GPI anchor biosynthetic process disease; GPIBD
Uwzględniono również konkretne postacie choroby
Obejmuje 27 powiązanych podtypów ↓Ukryj podtypy ↑
- 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
