Troubles de la biogenèse des peroxysomes (spectre de Zellweger et chondrodysplasie ponctuée rhizomélique)
Autosomique récessif
Des altérations de l'un quelconque des plus de douze gènes PEX, le plus souvent PEX1, touchent le cerveau, le foie, les reins, les os, les yeux et l'audition, avec une gravité allant d'une maladie menaçant le pronostic vital pendant la petite enfance à des troubles visuels, auditifs ou d'apprentissage plus légers.
Ce que change un diagnostic
Le diagnostic oriente la surveillance du foie, des glandes surrénales, de la vision et de l'audition, une supplémentation si nécessaire, ainsi que le dépistage de porteurs chez les apparentés.
Également connu sous le nom de
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
Inclut 47 sous-types associés ↓Masquer les sous-types ↑
- 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
