Zellweger spectrum disorders

rare

The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Identifiers: MONDO:0019609 Orphanet:772 Orphanet:912
Part of: Developmental anomaly of metabolic origin Peroxisome biogenesis disorder
Also known as: cerebrohepatorenal syndrome · Zellweger leukodystrophy · Zellweger syndrome · ZS · ZWS

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Peroxisome biogenesis disorder due to PEX12 defect	MONDO:0100266	3	PEX12
Peroxisome biogenesis disorder due to PEX1 defect	MONDO:0100259	2	PEX1
Peroxisome biogenesis disorder due to PEX10 defect	MONDO:0100264	2	PEX10
Peroxisome biogenesis disorder due to PEX13 defect	MONDO:0100267	2	PEX13
Peroxisome biogenesis disorder due to PEX14 defect	MONDO:0100268	2	PEX14
Peroxisome biogenesis disorder due to PEX16 defect	MONDO:0100269	2	PEX16
Peroxisome biogenesis disorder due to PEX2 defect	MONDO:0100260	2	PEX2
Peroxisome biogenesis disorder due to PEX26 defect	MONDO:0100271	2	PEX26
Peroxisome biogenesis disorder due to PEX3 defect	MONDO:0100261	2	PEX3
Peroxisome biogenesis disorder due to PEX5 defect	MONDO:0100262	2	PEX5
Peroxisome biogenesis disorder due to PEX6 defect	MONDO:0100263	2	PEX6
Peroxisome biogenesis disorder due to PEX11B defect	MONDO:0100279	1	PEX11B
Peroxisome biogenesis disorder due to PEX19 defect	MONDO:0100270	1	PEX19
Peroxisome biogenesis disorder, complementation group 2	MONDO:0800298

Rare disease

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