MCID: PRX007
MIFTS: 33

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

MalaCards integrated aliases for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:

Name: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 23 25 29
Zellweger Syndrome Spectrum 50 24 25
Zellweger Spectrum 50 25 69
Pbd, Zss 50 25
Pbd-Zsd 50 25
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum 50
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 50
Peroxisome Biogenesis Disorder Spectrum 50
Pbd-Zellweger Spectrum Disorder 50
Peroxisome Biogenesis Disorder 50
Zellweger Spectrum Disorders 50
Cerebrohepatorenal Syndrome 25
Zellweger Spectrum Disorder 25
Zellweger Syndrome 69
Pbd-Zss 50
Zsd 25

Classifications:



Summaries for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

NIH Rare Diseases : 50 zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. the spectrum includes zellweger syndrome (zs), the most severe form; neonatal adrenoleukodystrophy (nald), an intermediate form; and infantile refsum disease (ird), the least severe form. signs and symptoms of zs typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. individuals with zs often do not survive past the first year of life. the features of nald and ird often vary in nature and severity, and may not become apparent until late infancy or early childhood. individuals with nald or ird may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. most individuals with nald survive into childhood, and those with ird may reach adulthood. conditions in the zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. treatment typically focuses on the specific signs and symptoms present in each individual. last updated: 6/18/2013

MalaCards based summary : Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, also known as zellweger syndrome spectrum, is related to peroxisome biogenesis disorder 1b and peroxisome biogenesis disorder 9b, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. The drugs Betaine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include liver.

Genetics Home Reference : 25 Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild.

GeneReviews: NBK1448

Related Diseases for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Diseases related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 33.8 PEX1 PEX10
2 peroxisome biogenesis disorder 9b 33.2 PEX12 PEX2 PEX5
3 heimler syndrome 1 25.3 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
4 peroxisome biogenesis disorder 14b 12.5
5 peroxisome biogenesis disorder 4a 12.5
6 peroxisome biogenesis disorder 5a 12.5
7 peroxisome biogenesis disorder 1a 12.4
8 peroxisome biogenesis disorder 2a 12.4
9 peroxisome biogenesis disorder 6a 12.4
10 peroxisome biogenesis disorder 12a 12.4
11 peroxisome biogenesis disorder 11a 12.4
12 peroxisome biogenesis disorder 10a 12.4
13 peroxisome biogenesis disorder 8a 12.4
14 peroxisome biogenesis disorder 7a 12.4
15 peroxisome biogenesis disorder 3a 12.4
16 peroxisome biogenesis disorder 13a 12.4
17 peroxisome biogenesis disorder 6b 12.4
18 peroxisome biogenesis disorder 11b 12.4
19 peroxisome biogenesis disorder 4b 12.4
20 peroxisome biogenesis disorder 5b 12.4
21 peroxisome biogenesis disorder 8b 12.4
22 peroxisome biogenesis disorder 7b 12.4
23 peroxisome biogenesis disorder 2b 12.4
24 peroxisome biogenesis disorder 3b 12.4
25 peroxisome biogenesis disorder 10b 12.3
26 neonatal adrenoleukodystrophy 11.2
27 refsum disease, infantile form 11.2
28 heimler syndrome 2 11.0
29 deafness hypospadias metacarpal and metatarsal syndrome 10.4 PEX1 PEX6
30 glottis neoplasm 10.3 PEX26 PEX5
31 zellweger syndrome 10.1
32 peroxisomal biogenesis disorders 10.1
33 pfeiffer mayer syndrome 10.0 PEX1 PEX2 PEX5
34 klippel-feil syndrome 1 10.0 PEX2 PEX6
35 growth hormone deficiency, isolated, type ia 10.0 PEX1 PEX5
36 deafness, dystonia, and cerebral hypomyelination 8.8 PEX1 PEX10 PEX19 PEX26 PEX5 PEX6
37 oocyte maturation defect 2 8.2 PEX1 PEX14 PEX16 PEX2 PEX26 PEX5
38 leishmaniasis 8.2 PEX12 PEX13 PEX16 PEX2 PEX3 PEX5
39 pfeiffer kapferer syndrome 7.9 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
40 pityriasis versicolor 5.8 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
41 primary autosomal recessive microcephalies and seckel syndrome spectrum disorders 5.8 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
42 neonatal ovarian cyst 5.8 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:



Diseases related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Symptoms & Phenotypes for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

UMLS symptoms related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Drugs for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Antimetabolites Phase 3
3 Gastrointestinal Agents Phase 3
4 Hypolipidemic Agents Phase 3
5 Lipid Regulating Agents Phase 3
6 Bile Acids and Salts
7 Cholic Acids

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
3 The REPLACE Registry Recruiting NCT03115086

Search NIH Clinical Center for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Genetic Tests for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Genetic tests related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:

id Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 29
2 Zellweger Syndrome Spectrum 24 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6

Anatomical Context for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

MalaCards organs/tissues related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:

39
Liver

Publications for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Articles related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:

id Title Authors Year
1
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ( 20301621 )
1993

Variations for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

ClinVar genetic disease variations for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
2 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
3 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic

Expression for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.

Pathways for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Pathways related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.32 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16

GO Terms for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Cellular components related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.93 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
2 peroxisomal membrane GO:0005778 9.73 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
3 protein complex GO:0043234 9.67 PEX14 PEX19 PEX3 PEX5
4 peroxisomal importomer complex GO:1990429 9.26 PEX12 PEX14
5 integral component of peroxisomal membrane GO:0005779 9.17 PEX10 PEX12 PEX13 PEX16 PEX2 PEX26
6 membrane GO:0016020 10.1 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16

Biological processes related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.88 PEX1 PEX13 PEX14 PEX26 PEX5
2 protein ubiquitination GO:0016567 9.81 PEX10 PEX12 PEX2 PEX5
3 protein targeting to peroxisome GO:0006625 9.65 PEX1 PEX12 PEX16 PEX19 PEX6
4 peroxisome organization GO:0007031 9.65 PEX1 PEX10 PEX12 PEX14 PEX16 PEX19
5 protein import into peroxisome membrane GO:0045046 9.55 PEX16 PEX19 PEX26 PEX3 PEX5
6 fatty acid beta-oxidation GO:0006635 9.52 PEX2 PEX5
7 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX13 PEX14 PEX5
8 cerebral cortex cell migration GO:0021795 9.49 PEX13 PEX5
9 peroxisome membrane biogenesis GO:0016557 9.46 PEX16 PEX3
10 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
11 negative regulation of protein homotetramerization GO:1901094 9.4 PEX14 PEX5
12 microtubule-based peroxisome localization GO:0060152 9.37 PEX1 PEX13
13 protein import into peroxisome matrix GO:0016558 9.23 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2

Molecular functions related to Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16
2 protein complex binding GO:0032403 9.5 PEX1 PEX26 PEX6
3 protein N-terminus binding GO:0047485 9.43 PEX14 PEX19 PEX5
4 ATPase activity, coupled GO:0042623 9.16 PEX1 PEX6
5 protein C-terminus binding GO:0008022 9.02 PEX1 PEX12 PEX16 PEX26 PEX6

Sources for Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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