Details of Disease

General Information of Disease (ID: DISBQ6QJ)

• Disease Name: Peroxisome biogenesis disorder
• Synonyms: PBD-ZSS; PBD-Zellweger spectrum disorder; Zellweger syndrome spectrum; Zellweger spectrum; disorders of peroxisome biogenesis; ZSD; Zellweger spectrum disorder; Zellweger spectrum disorders; cerebrohepatorenal syndrome; peroxisome biogenesis disorder spectrum; peroxisomal biogenesis disorders; PBD, ZSS; peroxisomal biogenesis disorders, Zellweger syndrome spectrum; peroxisome biogenesis disorder-Zellweger syndrome spectrum; peroxisome biogenesis disorders, Zellweger syndrome spectrum; peroxisome biogenesis disorder; PBD-ZSD
• Definition: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS6SVEE: Syndromic disease
  DISVY1TT: Leukodystrophy
  DISCPWH9: Autosomal recessive disease
  DISV185U: Peroxisomal disorder
  DISBQ6QJ: Peroxisome biogenesis disorder
• Disease Identifiers:
  MONDO ID: MONDO_0019234
  MESH ID: C536664
  UMLS CUI: C1832200
  MedGen ID: 330407
  Orphanet ID: 79189
  SNOMED CT ID: 742876007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GUCY2D	TTWNFC2	moderate	Biomarker	[1]
PINX1	TT4FJ3A	moderate	Genetic Variation	[2]
HSD17B4	TTL1WGS	Strong	Biomarker	[3]

This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX11A	OT8MJ9CJ	No Known	Autosomal recessive	[4]
PEX11G	OTL3SY9G	No Known	Autosomal recessive	[4]
EPB41L4B	OT2K30P7	Disputed	Genetic Variation	[5]
KTN1	OTQAV541	Disputed	Genetic Variation	[5]
MAMLD1	OT9EVMQY	Disputed	Genetic Variation	[5]
NUP42	OTADT64E	Disputed	Genetic Variation	[5]
PAF1	OTDDGUBQ	Disputed	Biomarker	[2]
PIPOX	OTWTCOTN	Disputed	Altered Expression	[6]
AAAS	OTJT9T23	Definitive	Genetic Variation	[7]
PEX1	OTQJF0V7	Definitive	Autosomal recessive	[4]
PEX10	OTOCZCFA	Definitive	Autosomal recessive	[4]
PEX11B	OTB1AWPM	Definitive	Autosomal recessive	[4]
PEX12	OT9F6LPN	Definitive	Autosomal recessive	[4]
PEX13	OTXUAYEW	Definitive	Autosomal recessive	[4]
PEX14	OT98BZHE	Definitive	Autosomal recessive	[4]
PEX16	OTJQJ2TZ	Definitive	Autosomal recessive	[4]
PEX19	OTQIDE9Z	Definitive	Autosomal recessive	[4]
PEX2	OTKOEYRM	Definitive	Autosomal recessive	[4]
PEX26	OT5AM0BM	Definitive	Autosomal recessive	[4]
PEX3	OTGZ7ME2	Definitive	Autosomal recessive	[4]
PEX5	OTK4LMG7	Definitive	Autosomal recessive	[4]
PEX6	OTFAK5EF	Definitive	Autosomal recessive	[4]
PEX7	OTM7VBRC	Definitive	Autosomal recessive	[4]

References

• [1] Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.Pediatr Res. 2000 Oct;48(4):541-5. doi: 10.1203/00006450-200010000-00020.
• [2] From expressed sequence tags to peroxisome biogenesis disorder genes.Ann N Y Acad Sci. 1996 Dec 27;804:516-23. doi: 10.1111/j.1749-6632.1996.tb18641.x.
• [3] Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency.Brain Pathol. 2018 Sep;28(5):631-643. doi: 10.1111/bpa.12586. Epub 2018 Feb 21.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [5] Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.Cell Biochem Biophys. 2000;32 Spring:155-64. doi: 10.1385/cbb:32:1-3:155.
• [6] L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases.Biochem J. 2000 Feb 1;345 Pt 3(Pt 3):487-94.
• [7] The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.Autophagy. 2017 May 4;13(5):868-884. doi: 10.1080/15548627.2017.1291470.