Details of Disease | DrugMAP

General Information of Disease (ID: DISCYF3O)

Disease Name	Peroxisome biogenesis disorder 1B
Synonyms	infantile phytanic acid storage disease; peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease); Refsum disease, infantile; adrenoleukodystrophy, autosomal neonatal; peroxisome biogenesis disorder (NALD/Ird); PBD1B; peroxisome biogenesis disorder type 1B; peroxisome biogenesis disorder 1B; peroxisome biogenesis disorder 1B (NALD/IRD)
Disease Hierarchy	DISHYR28: Peroxisome biogenesis disorder due to PEX1 defect DISCYF3O: Peroxisome biogenesis disorder 1B
Disease Identifiers	MONDO ID MONDO_0011101 MESH ID D052919 UMLS CUI C0282527 OMIM ID 601539 MedGen ID 79470 SNOMED CT ID 238062008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPD1	TTKTEAH	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX12	OT9F6LPN	Disputed	Genetic Variation	[2]
PEX1	OTQJF0V7	Strong	Autosomal recessive	[3]
PEX2	OTKOEYRM	Strong	Genetic Variation	[4]
PEX26	OT5AM0BM	Strong	Genetic Variation	[5]
PEX7	OTM7VBRC	Strong	Genetic Variation	[6]
PEX14	OT98BZHE	Definitive	Biomarker	[7]
PEX6	OTFAK5EF	Definitive	Genetic Variation	[8]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DOT(s)

References

1	Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.J Med Genet. 1996 Apr;33(4):295-9. doi: 10.1136/jmg.33.4.295.
2	Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.Hum Mutat. 2004 Aug;24(2):130-9. doi: 10.1002/humu.20062.
3	PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat. 2005 Sep;26(3):167-75. doi: 10.1002/humu.20211.
4	Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. J Med Genet. 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779.
5	Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.J Biol Chem. 2006 Jan 20;281(3):1317-23. doi: 10.1074/jbc.M510044200. Epub 2005 Oct 27.
6	Genotype-phenotype correlations in disorders of peroxisome biogenesis.Mol Genet Metab. 1999 Oct;68(2):316-27. doi: 10.1006/mgme.1999.2926.
7	Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.Ann Neurol. 2000 Mar;47(3):286-96.
8	Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.Proc Natl Acad Sci U S A. 1998 Jul 21;95(15):8630-5. doi: 10.1073/pnas.95.15.8630.