Peroxisome biogenesis disorder with hypotonia and liver disease.
- Specialty
- Genetics
- Subspecialty
- Genetics / Peroxisomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, neonatal
- Gene(s) involved
- PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6
- Alternative names & eponyms
- Cerebrohepatorenal syndrome
Etiology & mechanism
Defective peroxisome assembly.
Gene(s) involved (12)
Symptoms & signs (7)
In plain terms, someone with Zellweger syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Caroli syndrome
hepatomegaly, renal cysts
2 shared
Cerebral folate deficiency syndrome
hypotonia, seizures
2 shared
Chanarin–Dorfman syndrome
cataracts, hepatomegaly
2 shared
Crigler–Najjar syndrome
hypotonia, seizures
2 shared
Menkes syndrome
hypotonia, seizures
2 shared
Miller–Dieker syndrome
hypotonia, seizures
2 shared
Reye syndrome
hepatomegaly, seizures
2 shared
Sotos syndrome
hypotonia, seizures
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Alcohol withdrawal syndrome
seizures
Shares genes with
None.
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