Peroksisomų biogenezės sutrikimai (Zellweger spektras ir rizomelinė chondrodisplazija punktata)
Autosominis recesyvinis
Pokyčiai bet kuriame iš daugiau nei tuzino PEX genų, dažniausiai PEX1, veikia smegenis, kepenis, inkstus, kaulus, akis ir klausą. Sunkumas svyruoja nuo gyvybę ribojančios ligos kūdikystėje iki lengvesnių regos, klausos ir mokymosi sutrikimų.
Ką keičia diagnozė
Diagnozė padeda stebėti kepenų, antinksčių, regos ir klausos funkciją, skirti papildomų medžiagų, kai tai tinkama, ir atlikti nešiotojo tyrimą giminaičiams.
Taip pat žinoma kaip
cerebrohepatorenal syndrome; disorders of peroxisome biogenesis; PBD-ZSS; PBD-Zellweger spectrum disorder; PBD-ZSD; peroxisomal biogenesis disorders; peroxisomal biogenesis disorders, Zellweger syndrome spectrum; peroxisome biogenesis disorder spectrum; peroxisome biogenesis disorder-Zellweger syndrome spectrum; Zellweger spectrum; Zellweger spectrum disorder; Zellweger syndrome spectrum; ZSD
Apima 47 susijusius poporūšius ↓Slėpti poporūšius ↑
- adult Refsum disease due to PEX7 defect
- non-Zellweger spectrum disorder
- peroxisome biogenesis disorder 10A (Zellweger)
- peroxisome biogenesis disorder 10B
- peroxisome biogenesis disorder 11A (Zellweger)
- peroxisome biogenesis disorder 11B
- peroxisome biogenesis disorder 12A (Zellweger)
- peroxisome biogenesis disorder 13A (Zellweger)
- peroxisome biogenesis disorder 14B
- peroxisome biogenesis disorder 1A (Zellweger)
- peroxisome biogenesis disorder 1B
- peroxisome biogenesis disorder 2A (Zellweger)
- peroxisome biogenesis disorder 2B
- peroxisome biogenesis disorder 3A (Zellweger)
- peroxisome biogenesis disorder 4A (Zellweger)
- peroxisome biogenesis disorder 4B
- peroxisome biogenesis disorder 5A (Zellweger)
- peroxisome biogenesis disorder 5B
- peroxisome biogenesis disorder 6A (Zellweger)
- peroxisome biogenesis disorder 6B
- peroxisome biogenesis disorder 7A (Zellweger)
- peroxisome biogenesis disorder 7B
- peroxisome biogenesis disorder 8A (Zellweger)
- peroxisome biogenesis disorder 8B
- peroxisome biogenesis disorder 9B
- peroxisome biogenesis disorder due to PEX1 defect
- peroxisome biogenesis disorder due to PEX10 defect
- peroxisome biogenesis disorder due to PEX11B defect
- peroxisome biogenesis disorder due to PEX12 defect
- peroxisome biogenesis disorder due to PEX13 defect
- peroxisome biogenesis disorder due to PEX14 defect
- peroxisome biogenesis disorder due to PEX16 defect
- peroxisome biogenesis disorder due to PEX19 defect
- peroxisome biogenesis disorder due to PEX2 defect
- peroxisome biogenesis disorder due to PEX26 defect
- peroxisome biogenesis disorder due to PEX3 defect
- peroxisome biogenesis disorder due to PEX5 defect
- peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
- peroxisome biogenesis disorder due to PEX6 defect
- peroxisome biogenesis disorder due to PEX7 defect
- peroxisome biogenesis disorder type 3B
- peroxisome biogenesis disorder, complementation group 2
- peroxisome biogenesis disorder, complementation group 3
- peroxisome biogenesis disorder, complementation group K
- rhizomelic chondrodysplasia punctata type 1
- rhizomelic chondrodysplasia punctata type 5
- Zellweger spectrum disorders
