Disorders of peroxisome biogenesis (Q46725): Difference between revisions
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Os distúrbios da biogênese de peroxissoma incluem o espectro da síndrome de Zellweger e condrodisplasia punctata rizomélica tipo 1 . Eles representam um continuum de distúrbios, incluindo doença de Refsum infantil, adrenoleucodistrofia neonatal e síndrome de Zellweger. Coletivamente, são distúrbios cerebrais de desenvolvimento autossômico recessivo que também resultam em dismorfismo esquelético e craniofacial, disfunção hepática, perda auditiva neurossensorial progressiva e retinopatia. | |||
| description / en | description / en | ||
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. | |||
Revision as of 15:31, 13 August 2026
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.
| Language | Label | Description | Also known as |
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| default for all languages | 5C57.0 |
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| English | Disorders of peroxisome biogenesis |
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. |
