ZSD
MCID: ZLL011
MIFTS: 33

Zellweger Spectrum Disorder (ZSD)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Zellweger Spectrum Disorder

MalaCards integrated aliases for Zellweger Spectrum Disorder:

Name: Zellweger Spectrum Disorder 24 25
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 25 29 6
Zellweger Spectrum 25 73
Zsd 24 25
Cerebrohepatorenal Syndrome 25
Zellweger Syndrome Spectrum 25
Zellweger Syndrome 73
Pbd, Zss 25
Pbd-Zsd 25

Classifications:



External Ids:

Summaries for Zellweger Spectrum Disorder

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.

MalaCards based summary : Zellweger Spectrum Disorder, also known as peroxisome biogenesis disorders, zellweger syndrome spectrum, is related to peroxisome biogenesis disorder 1a and zellweger syndrome, and has symptoms including seizures An important gene associated with Zellweger Spectrum Disorder is PEX6 (Peroxisomal Biogenesis Factor 6), and among its related pathways/superpathways is Peroxisome. The drugs Betaine and Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and eye.

GeneReviews: NBK1448

Related Diseases for Zellweger Spectrum Disorder

Diseases in the Zellweger Syndrome family:

Zellweger Spectrum Disorder

Diseases related to Zellweger Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 32.3 PEX1 PEX10
2 zellweger syndrome 30.4 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
3 peroxisomal disease 29.5 PEX1 PEX2
4 adrenoleukodystrophy 29.5 PEX1 PEX10 PEX6
5 peroxisomal biogenesis disorders 29.0 PEX1 PEX10 PEX12 PEX2 PEX3 PEX6
6 neonatal adrenoleukodystrophy 28.6 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
7 peroxisome biogenesis disorder 1b 28.4 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
8 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.9
9 peroxisome biogenesis disorder 2a 11.2
10 peroxisome biogenesis disorder 3a 11.2
11 peroxisome biogenesis disorder 4a 11.2
12 peroxisome biogenesis disorder 5a 11.2
13 peroxisome biogenesis disorder 6a 11.2
14 peroxisome biogenesis disorder 7a 11.2
15 peroxisome biogenesis disorder 8a 11.2
16 peroxisome biogenesis disorder 9b 11.2
17 peroxisome biogenesis disorder 10a 11.2
18 peroxisome biogenesis disorder 11a 11.2
19 peroxisome biogenesis disorder 12a 11.2
20 peroxisome biogenesis disorder 13a 11.2
21 peroxisome biogenesis disorder 2b 11.1
22 peroxisome biogenesis disorder 3b 11.1
23 peroxisome biogenesis disorder 4b 11.1
24 peroxisome biogenesis disorder 5b 11.1
25 peroxisome biogenesis disorder 6b 11.1
26 peroxisome biogenesis disorder 7b 11.1
27 peroxisome biogenesis disorder 8b 11.1
28 peroxisome biogenesis disorder 11b 11.1
29 peroxisome biogenesis disorder 14b 11.1
30 d-bifunctional protein deficiency 11.1
31 peroxisomal acyl-coa oxidase deficiency 11.1
32 bone mineral density quantitative trait locus 3 10.2
33 refsum disease, classic 10.0
34 refsum disease, infantile form 10.0
35 short-rib thoracic dysplasia 2 with or without polydactyly 10.0
36 short-rib thoracic dysplasia 4 with or without polydactyly 10.0
37 short-rib thoracic dysplasia 5 with or without polydactyly 10.0
38 asphyxiating thoracic dystrophy 10.0
39 tuberous sclerosis 10.0
40 peroxisome disorders 10.0
41 deafness enamel hypoplasia nail defects 9.8 PEX1 PEX6
42 rhizomelic chondrodysplasia punctata, type 1 9.8 PEX12 PEX2

Graphical network of the top 20 diseases related to Zellweger Spectrum Disorder:



Diseases related to Zellweger Spectrum Disorder

Symptoms & Phenotypes for Zellweger Spectrum Disorder

UMLS symptoms related to Zellweger Spectrum Disorder:


seizures

Drugs & Therapeutics for Zellweger Spectrum Disorder

Drugs for Zellweger Spectrum Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
3 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
4 The REPLACE Registry Recruiting NCT03115086

Search NIH Clinical Center for Zellweger Spectrum Disorder

Genetic Tests for Zellweger Spectrum Disorder

Genetic tests related to Zellweger Spectrum Disorder:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 29 PEX12 PEX16 PEX6

Anatomical Context for Zellweger Spectrum Disorder

MalaCards organs/tissues related to Zellweger Spectrum Disorder:

41
Brain, Liver, Eye, Bone

Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

(show all 17)
# Title Authors Year
1
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). ( 29482424 )
2018
2
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17A years follow-up. ( 29453832 )
2018
3
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids. ( 30362618 )
2018
4
A newly identified mutation in the PEX26 gene is associated with a milder type of Zellweger spectrum disorder. ( 30446579 )
2018
5
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder. ( 30519152 )
2018
6
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. ( 29220678 )
2017
7
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. ( 28673549 )
2017
8
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. ( 28784167 )
2017
9
Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. ( 27392320 )
2016
10
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. ( 27557811 )
2016
11
Eye movement abnormalities in a patient with Zellweger spectrum disorder. ( 26850714 )
2016
12
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios. ( 27284103 )
2016
13
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. ( 26319495 )
2015
14
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. ( 24503136 )
2014
15
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. ( 25079577 )
2014
16
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. ( 23430938 )
2012
17
Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? ( 21557147 )
2011

Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

6 (show top 50) (show all 53)
# 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.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
3 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
4 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
5 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
6 PEX2 NM_000318.2(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 GRCh37 Chromosome 8, 77896060: 77896060
7 PEX2 NM_000318.2(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 GRCh38 Chromosome 8, 76983824: 76983824
8 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
9 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
10 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh37 Chromosome 6, 42946682: 42946682
11 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh38 Chromosome 6, 42978944: 42978944
12 PEX6 NM_000287.3(PEX6): c.210G> A (p.Gly70=) single nucleotide variant Benign rs398123304 GRCh37 Chromosome 6, 42946679: 42946679
13 PEX6 NM_000287.3(PEX6): c.210G> A (p.Gly70=) single nucleotide variant Benign rs398123304 GRCh38 Chromosome 6, 42978941: 42978941
14 PEX6 NM_000287.3(PEX6): c.1677C> A (p.Asp559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs61732159 GRCh37 Chromosome 6, 42936039: 42936039
15 PEX6 NM_000287.3(PEX6): c.1677C> A (p.Asp559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs61732159 GRCh38 Chromosome 6, 42968301: 42968301
16 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
17 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
18 PEX6 NM_000287.3(PEX6): c.2644G> A (p.Val882Ile) single nucleotide variant Benign rs2274516 GRCh37 Chromosome 6, 42932835: 42932835
19 PEX6 NM_000287.3(PEX6): c.2644G> A (p.Val882Ile) single nucleotide variant Benign rs2274516 GRCh38 Chromosome 6, 42965097: 42965097
20 PEX6 NM_000287.3(PEX6): c.853C> G (p.Pro285Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61753220 GRCh37 Chromosome 6, 42946036: 42946036
21 PEX6 NM_000287.3(PEX6): c.853C> G (p.Pro285Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61753220 GRCh38 Chromosome 6, 42978298: 42978298
22 PEX6 NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC deletion Uncertain significance rs772869377 GRCh37 Chromosome 6, 42934195: 42934206
23 PEX6 NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC deletion Uncertain significance rs772869377 GRCh38 Chromosome 6, 42966457: 42966468
24 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh37 Chromosome 8, 77896070: 77896076
25 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh38 Chromosome 8, 76983834: 76983840
26 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
27 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh37 Chromosome 1, 2338020: 2338021
28 PEX6 NM_000287.3(PEX6): c.1234-7_1234-6dupTT duplication Benign/Likely benign rs200121485 GRCh37 Chromosome 6, 42937545: 42937546
29 PEX6 NM_000287.3(PEX6): c.1234-7_1234-6dupTT duplication Benign/Likely benign rs200121485 GRCh38 Chromosome 6, 42969807: 42969808
30 PEX16 NM_004813.2(PEX16): c.760G> C (p.Val254Leu) single nucleotide variant Benign/Likely benign rs35214605 GRCh37 Chromosome 11, 45935689: 45935689
31 PEX16 NM_004813.2(PEX16): c.760G> C (p.Val254Leu) single nucleotide variant Benign/Likely benign rs35214605 GRCh38 Chromosome 11, 45914138: 45914138
32 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh37 Chromosome 17, 33904914: 33904914
33 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh38 Chromosome 17, 35577895: 35577895
34 PEX6 NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 42937413: 42937413
35 PEX6 NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 42969675: 42969675
36 PEX6 NM_000287.3(PEX6): c.1233+1G> A single nucleotide variant Likely pathogenic rs763459576 GRCh37 Chromosome 6, 42937622: 42937622
37 PEX6 NM_000287.3(PEX6): c.1233+1G> A single nucleotide variant Likely pathogenic rs763459576 GRCh38 Chromosome 6, 42969884: 42969884
38 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh38 Chromosome 6, 42966796: 42966796
39 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh37 Chromosome 6, 42934534: 42934534
40 PEX1 NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Likely pathogenic rs61750428 GRCh38 Chromosome 7, 92494331: 92494331
41 PEX1 NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Likely pathogenic rs61750428 GRCh37 Chromosome 7, 92123645: 92123645
42 PEX26 NM_017929.5(PEX26): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 18561327: 18561327
43 PEX26 NM_017929.5(PEX26): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 18078561: 18078561
44 PEX12 NM_000286.2(PEX12): c.204_206delTCT (p.Leu70del) deletion Uncertain significance GRCh38 Chromosome 17, 35577512: 35577514
45 PEX12 NM_000286.2(PEX12): c.204_206delTCT (p.Leu70del) deletion Uncertain significance GRCh37 Chromosome 17, 33904531: 33904533
46 PEX6 NM_000287.3(PEX6): c.1941C> A (p.Cys647Ter) single nucleotide variant Pathogenic rs781475201 GRCh38 Chromosome 6, 42966802: 42966802
47 PEX6 NM_000287.3(PEX6): c.1941C> A (p.Cys647Ter) single nucleotide variant Pathogenic rs781475201 GRCh37 Chromosome 6, 42934540: 42934540
48 PEX6 NM_000287.3(PEX6): c.1409G> C (p.Gly470Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 42936682: 42936682
49 PEX6 NM_000287.3(PEX6): c.1409G> C (p.Gly470Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 42968944: 42968944
50 PEX6 NM_000287.3(PEX6): c.2667-2A> C single nucleotide variant Pathogenic rs267608249 GRCh38 Chromosome 6, 42964931: 42964931

Expression for Zellweger Spectrum Disorder

Search GEO for disease gene expression data for Zellweger Spectrum Disorder.

Pathways for Zellweger Spectrum Disorder

Pathways related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

GO Terms for Zellweger Spectrum Disorder

Cellular components related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
2 integral component of peroxisomal membrane GO:0005779 9.55 PEX10 PEX12 PEX16 PEX2 PEX3
3 peroxisomal membrane GO:0005778 9.5 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
4 peroxisome GO:0005777 9.17 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

Biological processes related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.63 PEX1 PEX10 PEX12 PEX16 PEX2 PEX6
2 protein ubiquitination GO:0016567 9.54 PEX10 PEX12 PEX2
3 peroxisome organization GO:0007031 9.5 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
4 protein import into peroxisome membrane GO:0045046 9.32 PEX16 PEX3
5 peroxisome membrane biogenesis GO:0016557 9.26 PEX16 PEX3
6 protein import into peroxisome matrix GO:0016558 9.1 PEX1 PEX10 PEX12 PEX16 PEX2 PEX6

Molecular functions related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
2 ATPase activity, coupled GO:0042623 8.96 PEX1 PEX6
3 protein C-terminus binding GO:0008022 8.92 PEX1 PEX12 PEX16 PEX6

Sources for Zellweger Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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