GPI-ankurdumise biosünteesi häired
Pärilike seisundite rühm, mida põhjustavad GPI ankru moodustamiseks ja kinnitamiseks vajalike geenide PIG, PGAP ja nendega seotud geenide variandid. Tavaliselt kaasnevad arengu viivitus, madal lihastoonus ja epilepsia.
Analüüsitud geenid
Tuntud ka nimetustena
disorder of GPI anchor biosynthetic process; glycosylphosphatidylinositol biosynthesis defect; GPI anchor biosynthetic process disease; GPIBD
Hõlmatud on ka konkreetsed vormid
Hõlmab 27 seotud alatüüpi ↓Peida alatüübid ↑
- 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
