Disturbi della biogenesi dei perossisomi (spettro di Zellweger e condrodisplasia punctata rizomelica)
Autosomica recessiva
Alterazioni in uno qualsiasi dei più di una dozzina di geni PEX, più spesso PEX1, interessano cervello, fegato, reni, ossa, occhi e udito, con una gravità che va da una malattia che limita la vita nella prima infanzia a lievi problemi di vista, udito e apprendimento.
Cosa cambia con una diagnosi
La diagnosi orienta il monitoraggio della funzionalità epatica, surrenalica, visiva e uditiva, l'eventuale supplementazione quando indicata, e il test di portatore per i familiari.
Conosciuto anche come
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
Include 47 sottotipi correlati ↓Nascondi i sottotipi ↑
- 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
