Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Peroxisome biogenesis disorders
Synonyms
ID

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

C1832200
HM

D018901
Inverse of RB

0
Mapped to

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

20100825
MeSH Frequency

57
MMR

20150818
notation

C536664
prefLabel

Peroxisome biogenesis disorders
SC

3
Scope Statement

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
TERMUI

T740054
TH

OMIM (2013)

ORD (2010)
tui

T047
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