MCID: ZLL011
MIFTS: 32

Zellweger Spectrum Disorder

Categories: Rare diseases, Metabolic 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
Cerebrohepatorenal Syndrome 25
Zellweger Syndrome Spectrum 25
Zellweger Syndrome 73
Pbd, Zss 25
Pbd-Zsd 25
Zsd 25

Classifications:



External Ids:

UMLS 73 C3658299

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 adrenoleukodystrophy and neonatal adrenoleukodystrophy, 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 Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain.

GeneReviews:

Related Diseases for Zellweger Spectrum Disorder

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 Gastrointestinal Agents Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Antimetabolites Phase 3
6 Cholic Acids
7 Bile Acids and Salts

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 Recruiting 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
Bone, Liver, Brain, Eye

Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

(show all 21)
# 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
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. ( 29220678 )
2017
4
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. ( 28673549 )
2017
5
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. ( 28784167 )
2017
6
Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 26643206 )
2016
7
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. ( 27331009 )
2016
8
Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. ( 27392320 )
2016
9
Cholic acid therapy in Zellweger spectrum disorders. ( 27469511 )
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
Zellweger spectrum disorders: clinical overview and management approach. ( 26627182 )
2015
14
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. ( 26319495 )
2015
15
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. ( 26287655 )
2015
16
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. ( 24503136 )
2014
17
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. ( 25179809 )
2014
18
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. ( 25079577 )
2014
19
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. ( 23430938 )
2012
20
Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination? ( 21557147 )
2011
21
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum ( 20301621 )
1993

Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

6
(show all 37)
# 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.1677C> A (p.Asp559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs61732159 GRCh37 Chromosome 6, 42936039: 42936039
11 PEX6 NM_000287.3(PEX6): c.1677C> A (p.Asp559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs61732159 GRCh38 Chromosome 6, 42968301: 42968301
12 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
13 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
14 PEX6 NM_000287.3(PEX6): c.2644G> A (p.Val882Ile) single nucleotide variant Benign rs2274516 GRCh37 Chromosome 6, 42932835: 42932835
15 PEX6 NM_000287.3(PEX6): c.2644G> A (p.Val882Ile) single nucleotide variant Benign rs2274516 GRCh38 Chromosome 6, 42965097: 42965097
16 PEX6 NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC deletion Uncertain significance rs772869377 GRCh37 Chromosome 6, 42934195: 42934206
17 PEX6 NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC deletion Uncertain significance rs772869377 GRCh38 Chromosome 6, 42966457: 42966468
18 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh37 Chromosome 8, 77896070: 77896076
19 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh38 Chromosome 8, 76983834: 76983840
20 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
21 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh37 Chromosome 1, 2338020: 2338021
22 PEX6 NM_000287.3(PEX6): c.1234-7_1234-6dupTT duplication Benign/Likely benign rs200121485 GRCh37 Chromosome 6, 42937545: 42937546
23 PEX6 NM_000287.3(PEX6): c.1234-7_1234-6dupTT duplication Benign/Likely benign rs200121485 GRCh38 Chromosome 6, 42969807: 42969808
24 PEX16 NM_004813.2(PEX16): c.760G> C (p.Val254Leu) single nucleotide variant Benign/Likely benign rs35214605 GRCh37 Chromosome 11, 45935689: 45935689
25 PEX16 NM_004813.2(PEX16): c.760G> C (p.Val254Leu) single nucleotide variant Benign/Likely benign rs35214605 GRCh38 Chromosome 11, 45914138: 45914138
26 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh37 Chromosome 17, 33904914: 33904914
27 PEX12 NM_000286.2(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 GRCh38 Chromosome 17, 35577895: 35577895
28 PEX6 NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 42937413: 42937413
29 PEX6 NM_000287.3(PEX6): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 42969675: 42969675
30 PEX6 NM_000287.3(PEX6): c.1233+1G> A single nucleotide variant Likely pathogenic rs763459576 GRCh37 Chromosome 6, 42937622: 42937622
31 PEX6 NM_000287.3(PEX6): c.1233+1G> A single nucleotide variant Likely pathogenic rs763459576 GRCh38 Chromosome 6, 42969884: 42969884
32 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh37 Chromosome 6, 42934534: 42934534
33 PEX6 NM_000287.3(PEX6): c.1947delG (p.Ile650Serfs) deletion Pathogenic rs267608227 GRCh38 Chromosome 6, 42966796: 42966796
34 PEX1 NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Likely pathogenic rs61750428 GRCh38 Chromosome 7, 92494331: 92494331
35 PEX1 NM_000466.2(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Likely pathogenic rs61750428 GRCh37 Chromosome 7, 92123645: 92123645
36 PEX26 NM_017929.5(PEX26): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 18561327: 18561327
37 PEX26 NM_017929.5(PEX26): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 18078561: 18078561

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 peroxisome GO:0005777 9.5 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
4 peroxisomal membrane GO:0005778 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 ubiquitination GO:0016567 9.54 PEX10 PEX12 PEX2
2 protein targeting to peroxisome GO:0006625 9.46 PEX1 PEX12 PEX16 PEX6
3 protein import into peroxisome matrix GO:0016558 9.35 PEX1 PEX10 PEX12 PEX16 PEX2
4 protein import into peroxisome membrane GO:0045046 9.32 PEX16 PEX3
5 peroxisome membrane biogenesis GO:0016557 9.26 PEX16 PEX3
6 peroxisome organization GO:0007031 9.17 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled GO:0042623 8.96 PEX1 PEX6
2 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
Content
Loading form....