Peroxisome biogenesis disorders

http://purl.bioontology.org/ontology/MESH/C536664

C1832200

D018901

0

http://purl.bioontology.org/ontology/MESH/D018901

20100825

34

20150818

C536664

Peroxisome biogenesis disorders

3

The peroxisome biogenesis disorders (PBDs) neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the ZELLWEGER SYNDROME SPECTRUM. Most patients survive to adolesence and affected children experience HYPOTONIA but are able to achieve developmental milestones. In addition, craniofacial features are similar to but less pronounced than in Zellweger syndrome. Patients also may experience SEIZURES. and have renal cysts. In contrast to ZS, they may also develop SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Caused by mutations in the PEX genes. OMIM: 601539

T740054

ORD (2010)

OMIM (2013)

T047