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ZS
MCID: ZLL001
MIFTS: 64

Zellweger Syndrome (ZS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Zellweger Syndrome

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MalaCards integrated aliases for Zellweger Syndrome:

Name: Zellweger Syndrome 11 19 52 58 75 53 5 43 14 71
Cerebrohepatorenal Syndrome 11 19 58
Zellweger Leukodystrophy 19 5 71
Zs 19 58
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder 58
Congenital Iron Overload 11
Severe Pbd-Zsd 58
Zws 19
Chr 19

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

1-9/100000 (Specific population, Israel, Specific population) 58

Age Of Onset:

Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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Summaries for Zellweger Syndrome

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NINDS: 52 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form). Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.

MalaCards based summary: Zellweger Syndrome, also known as cerebrohepatorenal syndrome, is related to peroxisome biogenesis disorder 1a and peroxisomal biogenesis disorder, and has symptoms including seizures An important gene associated with Zellweger Syndrome is PEX2 (Peroxisomal Biogenesis Factor 2), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Bile Acids and Salts and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and kidney, and related phenotypes are failure to thrive and eeg abnormality

GARD: 19 Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Zellweger syndrome is caused by genetic changes in any one of at least 12 genes; genetic changes in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner.

Disease Ontology: 11 A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has material basis in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.

Orphanet: 58 A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

Wikipedia: 75 Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional... more...
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Related Diseases for Zellweger Syndrome

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Diseases in the Zellweger Syndrome family:

Zellweger Spectrum Disorder

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

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 33.3 PEX6 PEX5 PEX3 PEX1 GATAD1
2 peroxisomal biogenesis disorder 33.2 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
3 zellweger spectrum disorder 33.1 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
4 peroxisome biogenesis disorder 1b 33.0 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
5 d-bifunctional protein deficiency 33.0 SCP2 PEX6 PEX1 EHHADH ABCD3
6 neonatal adrenoleukodystrophy 32.6 SCP2 PEX6 PEX5 PEX3 PEX26 PEX2
7 refsum disease, classic 32.4 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
8 refsum disease, infantile form 32.4 PEX1 GATAD1
9 peroxisomal disease 31.9 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
10 adrenoleukodystrophy 31.8 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
11 chondrodysplasia punctata syndrome 31.3 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
12 rhizomelic chondrodysplasia punctata 31.2 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
13 sensorineural hearing loss 31.0 PEX6 PEX5 PEX26 PEX2 PEX13 PEX12
14 heimler syndrome 1 30.9 PEX6 PEX1 GATAD1
15 leukodystrophy 30.9 SLC25A17 PEX6 PEX5 PEX26 PEX13 PEX10
16 rhizomelic chondrodysplasia punctata, type 1 30.5 SCP2 PEX6 PEX5 PEX12 PEX11B PEX1
17 acatalasemia 30.4 SLC25A17 PEX3 PEX19
18 peroxisome biogenesis disorder 5a 11.5
19 peroxisome biogenesis disorder 6a 11.3
20 peroxisome biogenesis disorder 3a 11.3
21 peroxisome biogenesis disorder 4a 11.3
22 peroxisome biogenesis disorder 10a 11.3
23 peroxisome biogenesis disorder 7a 11.3
24 peroxisome biogenesis disorder 8a 11.3
25 peroxisome biogenesis disorder 11a 11.3
26 peroxisome biogenesis disorder 12a 11.3
27 peroxisome biogenesis disorder 13a 11.3
28 peroxisome biogenesis disorder 2a 11.3
29 alpha-methylacetoacetic aciduria 11.2
30 peroxisome biogenesis disorder 14b 11.1
31 mental retardation, skeletal dysplasia, and abducens palsy 11.1
32 peroxisome biogenesis disorder 4b 11.0
33 peroxisome biogenesis disorder 5b 11.0
34 peroxisome biogenesis disorder 3b 11.0
35 peroxisome biogenesis disorder 6b 11.0
36 peroxisome biogenesis disorder 7b 11.0
37 peroxisome biogenesis disorder 2b 11.0
38 combined hamartoma of the retina and retinal pigment epithelium 11.0
39 chronic sphenoidal sinusitis 11.0
40 peroxisome biogenesis disorder 8b 11.0
41 peroxisome biogenesis disorder 9b 11.0
42 peroxisome biogenesis disorder 11b 11.0
43 zellweger-like syndrome without peroxisomal anomalies 11.0
44 hypotonia 10.6
45 hepatorenal syndrome 10.6
46 cerebral degeneration 10.5 SLC25A17 PEX6 PEX5 PEX26 PEX13 PEX10
47 albinism, ocular, with late-onset sensorineural deafness 10.5 PEX26 PEX16 PEX13 PEX12 PEX11B PEX10
48 alpha-methylacyl-coa racemase deficiency 10.5 SCP2 PEX6 PEX26 PEX11B ABCD3
49 rhizomelic chondrodysplasia punctata, type 5 10.5 PEX5 PEX14 GNPAT AGPS
50 linear skin defects with multiple congenital anomalies 1 10.5 PEX26 PEX16 PEX13 PEX12 PEX11B

Graphical network of the top 20 diseases related to Zellweger Syndrome:



Diseases related to Zellweger Syndrome
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Symptoms & Phenotypes for Zellweger Syndrome

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Human phenotypes related to Zellweger Syndrome:

58 30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001508
2 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002353
3 respiratory insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002093
4 hepatomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002240
5 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002652
6 depressed nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005280
7 corneal opacity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007957
8 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000431
9 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004322
10 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008872
11 cognitive impairment 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100543
12 epiphyseal stippling 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010655
13 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012368
14 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000286
15 external ear malformation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008572
16 jaundice 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000952
17 reduced tendon reflexes 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001315
18 upslanted palpebral fissure 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000582
19 high forehead 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000348
20 hepatic failure 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001399
21 wide anterior fontanel 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000260
22 severe muscular hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0006829
23 very long chain fatty acid accumulation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008167
24 profound global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012736
25 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000256
26 seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001250
27 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000639
28 high palate 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000218
29 cataract 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000518
30 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002024
31 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000252
32 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000407
33 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000505
34 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000648
35 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000028
36 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000347
37 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000126
38 flat occiput 58 30 Frequent (33%) Frequent (79-30%)
 HP:0005469
39 posterior embryotoxon 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000627
40 hypospadias 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000047
41 pyloric stenosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002021
42 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000003
43 premature birth 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001622
44 polymicrogyria 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002126
45 underdeveloped supraorbital ridges 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009891
46 clitoral hypertrophy 30 Frequent (33%) HP:0008665
47 abnormal chorioretinal morphology 30 Frequent (33%) HP:0000532
48 thickened nuchal skin fold 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000474
49 glaucoma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000501
50 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001629

UMLS symptoms related to Zellweger Syndrome:


seizures

GenomeRNAi Phenotypes related to Zellweger Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABCD3 AGPS EHHADH GATAD1 GNPAT PEX1
2 no effect GR00402-S-2 10.15 AGPS EHHADH GATAD1 GNPAT PEX1 PEX11B

MGI Mouse Phenotypes related to Zellweger Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ABCD3 AGPS EHHADH GNPAT PEX1 PEX10
2 growth/size/body region MP:0005378 10.03 ABCD3 EHHADH GNPAT PEX1 PEX10 PEX11B
3 liver/biliary system MP:0005370 9.97 ABCD3 EHHADH PEX1 PEX11B PEX13 PEX2
4 behavior/neurological MP:0005386 9.73 ABCD3 EHHADH GNPAT PEX1 PEX10 PEX11B
5 mortality/aging MP:0010768 9.47 AGPS EHHADH GNPAT PEX1 PEX10 PEX11B
Sources

Drugs & Therapeutics for Zellweger Syndrome

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 3
2 Gastrointestinal Agents Phase 3
3 Cholic Acids Phase 3
4 Liver Extracts Phase 3
5
Hydroxychloroquine Approved Phase 2 118-42-3 3652
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Rituximab Approved Phase 2 174722-31-7
8
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
9
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Tocopherol Approved, Investigational Phase 2 1406-66-2
14
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
15
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
16
Tocotrienol Investigational Phase 2 6829-55-6 9929901
17 Antirheumatic Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antiprotozoal Agents Phase 2
20 Antiparasitic Agents Phase 2
21 Antimalarials Phase 2
22 Vitamins Phase 2
23 Alpha-lipoic Acid Phase 2
24 Antilymphocyte Serum Phase 2
25 N-monoacetylcystine Phase 2
26 Tocotrienols Phase 2
27 Tocopherols Phase 2
28
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
29
Chenodeoxycholic acid Approved 474-25-9 10133
30 Cathartics
31 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
2 Hydroxychloroquine Administration for Reduction of Pexophagy Completed NCT03856866 Phase 2 Hydroxychloroquine;Placebo
3 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
4 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
5 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
6 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Zellweger Syndrome

Cochrane evidence based reviews: zellweger syndrome

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Genetic Tests for Zellweger Syndrome

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Anatomical Context for Zellweger Syndrome

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Organs/tissues related to Zellweger Syndrome:

MalaCards : Liver, Eye, Kidney, Brain, Bone, Heart, Skin
Sources

Publications for Zellweger Syndrome

About this section

Articles related to Zellweger Syndrome:

(show top 50) (show all 787)
# Title Authors PMID Year
1
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. 53 62 5
10480353 1999
2
Identification of a common PEX1 mutation in Zellweger syndrome. 53 62 5
10447258 1999
3
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 53 62 5
9539740 1998
4
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 53 62 5
1301993 1992
5
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 62 5
27302843 2016
6
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 62 5
27090541 2016
7
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 62 5
26387595 2015
8
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 62 5
23247051 2013
9
Genetics and molecular basis of human peroxisome biogenesis disorders. 62 5
22871920 2012
10
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 62 5
21846392 2011
11
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 62 5
21031596 2011
12
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 62 5
21844578 2011
13
Germinal matrix hemorrhage in Zellweger syndrome. 62 5
20952722 2010
14
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 62 5
19105186 2009
15
Peroxisome biogenesis disorders. 62 5
17055079 2006
16
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 62 5
16086329 2005
17
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 62 5
16088892 2005
18
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 62 5
15542397 2004
19
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 62 5
15098231 2004
20
Zellweger Spectrum Disorder 62 5
20301621 2003
21
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 62 5
12402331 2002
22
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 62 5
11389485 2001
23
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 62 5
11439091 2001
24
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 62 5
9398848 1997
25
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 5
32214227 2020
26
Genetic basis of neurodevelopmental disorders in 103 Jordanian families. 5
32056211 2020
27
Expanding the clinical and genetic spectrum of Heimler syndrome. 5
31831025 2019
28
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 5
30561787 2019
29
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 5
28468868 2017
30
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 5
27124789 2016
31
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 5
27872819 2016
32
Cholic acid therapy in Zellweger spectrum disorders. 5
27469511 2016
33
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 5
27353947 2016
34
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 5
26287655 2016
35
Low bone mineral density is a common feature of Zellweger spectrum disorders. 5
26643206 2016
36
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 5
27882258 2016
37
Friedreich Ataxia in Classical Galactosaemia. 5
26219880 2016
38
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 5
25412400 2015
39
Repository of mutations from Oman: The entry point to a national mutation database. 5
26594346 2015
40
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 5
25525159 2015
41
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. 5
24503136 2014
42
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
43
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
44
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 5
16141001 2005
45
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 5
12032265 2002
46
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 5
10384394 1999
47
Statistical features of human exons and their flanking regions. 5
9536098 1998
48
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 5
9398847 1997
49
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. 5
2063923 1991
50
Visual follow-up in peroxisomal-disorder patients treated with docosahexaenoic Acid ethyl ester. 53 62
19933185 2010
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Variations for Zellweger Syndrome

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ClinVar genetic disease variations for Zellweger Syndrome:

5 (show top 50) (show all 1400)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX1 NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) DEL Pathogenic
 7518 rs1554372074 GRCh37: 7:92134053-92134211
GRCh38: 7:92504739-92504897
2 GATAD1, PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) DUP Pathogenic
Pathogenic
 203390 rs794729652 GRCh37: 7:92120644-92120645
GRCh38: 7:92491330-92491331
3 GATAD1, PEX1 NM_000466.3(PEX1):c.3579del (p.Asp1194fs) DEL Pathogenic
 488572 rs1554366802 GRCh37: 7:92119085-92119085
GRCh38: 7:92489771-92489771
4 PEX3 NM_003630.3(PEX3):c.942-8T>G SNV Pathogenic
 631556 rs267608193 GRCh37: 6:143806281-143806281
GRCh38: 6:143485144-143485144
5 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) SNV Pathogenic
Pathogenic
Likely Pathogenic
 810635 rs201415996 GRCh37: 7:92147524-92147524
GRCh38: 7:92518210-92518210
6 PEX1 NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) INDEL Pathogenic
 965312 rs1792860966 GRCh37: 7:92146994-92147010
GRCh38: 7:92517680-92517696
7 PEX1 NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) INDEL Pathogenic
 970432 rs1791951634 GRCh37: 7:92131289-92131290
GRCh38: 7:92501975-92501976
8 PEX10 NM_002617.4(PEX10):c.704dup (p.Leu236fs) DUP Pathogenic
 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
9 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) DEL Pathogenic
 813403 rs267608178 GRCh37: 7:92132492-92132496
GRCh38: 7:92503178-92503182
10 PEX10 NM_002617.4(PEX10):c.1A>G (p.Met1Val) SNV Pathogenic
 280002 rs886041314 GRCh37: 1:2343941-2343941
GRCh38: 1:2412502-2412502
11 PEX1 NM_000466.3(PEX1):c.788_789del (p.Thr263fs) DEL Pathogenic
 1098755 GRCh37: 7:92147040-92147041
GRCh38: 7:92517726-92517727
12 PEX10 NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) SNV Pathogenic
 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
13 GATAD1, PEX1 NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) DEL Pathogenic
 817583 rs1585214453 GRCh37: 7:92120692-92120695
GRCh38: 7:92491378-92491381
14 PEX10 NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) SNV Pathogenic
 282334 rs62641225 GRCh37: 1:2338000-2338000
GRCh38: 1:2406561-2406561
15 PEX1 NM_000466.3(PEX1):c.1842del (p.Glu615fs) DEL Pathogenic
Likely Pathogenic
 371703 rs267608176 GRCh37: 7:92135620-92135620
GRCh38: 7:92506306-92506306
16 PEX1 NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) DEL Pathogenic
 1252071 GRCh37: 7:92143162-92143281
GRCh38: 7:92513848-92513967
17 GATAD1, PEX1 NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) SNV Pathogenic
 1252072 GRCh37: 7:92119096-92119096
GRCh38: 7:92489782-92489782
18 PEX1 NM_000466.3(PEX1):c.657_660del (p.Ser220fs) DEL Pathogenic
 191337 rs786205656 GRCh37: 7:92147169-92147172
GRCh38: 7:92517855-92517858
19 PEX1 NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) SNV Pathogenic
Likely Pathogenic
 93104 rs398123409 GRCh37: 7:92131390-92131390
GRCh38: 7:92502076-92502076
20 PEX1 NM_000466.3(PEX1):c.1131del (p.Asp378fs) DEL Pathogenic
 286796 rs886043479 GRCh37: 7:92146698-92146698
GRCh38: 7:92517384-92517384
21 GATAD1, PEX1 NM_000466.3(PEX1):c.2859dup (p.Thr954fs) DUP Pathogenic
Likely Pathogenic
 371706 rs1057517472 GRCh37: 7:92123867-92123868
GRCh38: 7:92494553-92494554
22 PEX1 NM_000466.3(PEX1):c.1927dup (p.Thr643fs) DUP Pathogenic
Likely Pathogenic
 558710 rs1554372180 GRCh37: 7:92134189-92134190
GRCh38: 7:92504875-92504876
23 PEX1 NM_000466.3(PEX1):c.1522dup (p.Glu508fs) DUP Pathogenic
Likely Pathogenic
 371689 rs1057517463 GRCh37: 7:92140322-92140323
GRCh38: 7:92511008-92511009
24 GATAD1, PEX1 NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) SNV Pathogenic
Likely Pathogenic
 371698 rs1057517467 GRCh37: 7:92119090-92119090
GRCh38: 7:92489776-92489776
25 PEX1 NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) SNV Pathogenic
Likely Pathogenic
 550841 rs61750409 GRCh37: 7:92135565-92135565
GRCh38: 7:92506251-92506251
26 PEX1 NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) MICROSAT Pathogenic
 1323432 GRCh37: 7:92132497-92132498
GRCh38: 7:92503183-92503184
27 PEX1 NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) SNV Pathogenic
 1324876 GRCh37: 7:92140966-92140966
GRCh38: 7:92511652-92511652
28 PEX1 NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) SNV Pathogenic
 1380467 GRCh37: 7:92130888-92130888
GRCh38: 7:92501574-92501574
29 PEX1 NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) DUP Pathogenic
Likely Pathogenic
 558642 rs1554372561 GRCh37: 7:92135622-92135623
GRCh38: 7:92506308-92506309
30 GATAD1, PEX1 NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) DEL Pathogenic
 1384557 GRCh37: 7:92120764-92120765
GRCh38: 7:92491450-92491451
31 PEX1 NM_000466.3(PEX1):c.2164del (p.Val723fs) DEL Pathogenic
 1404596 GRCh37: 7:92132417-92132417
GRCh38: 7:92503103-92503103
32 PEX1 NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) SNV Pathogenic
 1404606 GRCh37: 7:92132419-92132419
GRCh38: 7:92503105-92503105
33 GATAD1, PEX1 NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) MICROSAT Pathogenic
 1363179 GRCh37: 7:92122318-92122322
GRCh38: 7:92493004-92493008
34 PEX1 NM_000466.3(PEX1):c.2039del (p.Pro680fs) DEL Pathogenic
 1403359 GRCh37: 7:92134078-92134078
GRCh38: 7:92504764-92504764
35 PEX1 NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) SNV Pathogenic
 1403370 GRCh37: 7:92146874-92146874
GRCh38: 7:92517560-92517560
36 PEX1 NM_000466.3(PEX1):c.1963_1967del (p.Gln655fs) DEL Pathogenic
 1380000 GRCh37: 7:92134150-92134154
GRCh38: 7:92504836-92504840
37 PEX1 NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) SNV Pathogenic
 1422035 GRCh37: 7:92136316-92136316
GRCh38: 7:92507002-92507002
38 PEX1 NM_000466.3(PEX1):c.1916dup (p.Asn639fs) DUP Pathogenic
 1423136 GRCh37: 7:92134200-92134201
GRCh38: 7:92504886-92504887
39 GATAD1, PEX1 NM_000466.3(PEX1):c.2977dup (p.Leu993fs) DUP Pathogenic
 1415183 GRCh37: 7:92123659-92123660
GRCh38: 7:92494345-92494346
40 PEX1 NC_000007.13:g.(?_92116771)_(92116875_?)del DEL Pathogenic
 1455007 GRCh37: 7:92116771-92116875
GRCh38:
41 PEX1 NC_000007.13:g.(?_92135552)_(92140371_?)del DEL Pathogenic
 1455008 GRCh37: 7:92135552-92140371
GRCh38:
42 PEX1 NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) SNV Pathogenic
 1456289 GRCh37: 7:92143179-92143179
GRCh38: 7:92513865-92513865
43 PEX1 NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) SNV Pathogenic
 1437796 GRCh37: 7:92134154-92134154
GRCh38: 7:92504840-92504840
44 PEX1 NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) SNV Pathogenic
 1457762 GRCh37: 7:92147222-92147222
GRCh38: 7:92517908-92517908
45 PEX1 NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) SNV Pathogenic
 1457806 GRCh37: 7:92157716-92157716
GRCh38: 7:92528402-92528402
46 GATAD1, PEX1 NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter) DUP Pathogenic
 1428826 GRCh37: 7:92123625-92123626
GRCh38: 7:92494311-92494312
47 PEX1 NM_000466.3(PEX1):c.305del (p.Ser102fs) DEL Pathogenic
 1455962 GRCh37: 7:92148361-92148361
GRCh38: 7:92519047-92519047
48 PEX1 NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) DUP Pathogenic
 1442533 GRCh37: 7:92147287-92147288
GRCh38: 7:92517973-92517974
49 PEX1 NM_000466.3(PEX1):c.1208del (p.Asn403fs) DEL Pathogenic
 1457173 GRCh37: 7:92146621-92146621
GRCh38: 7:92517307-92517307
50 PEX1 NM_000466.3(PEX1):c.1891del (p.Ala631fs) DEL Pathogenic
 1458579 GRCh37: 7:92135571-92135571
GRCh38: 7:92506257-92506257

Copy number variations for Zellweger Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 215229 6 73300000 149100000 Copy number PEX3 Zellweger syndrome
Sources

Expression for Zellweger Syndrome

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Search GEO for disease gene expression data for Zellweger Syndrome.
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Pathways for Zellweger Syndrome

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Pathways related to Zellweger Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peroxisomal lipid metabolism 66
Show member pathways
 12.18 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
2
Protein ubiquitination 66
Show member pathways
 11.77 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3
PPAR-alpha pathway 74
10.78 SCP2 EHHADH
4
Ether lipid biosynthesis 74
10.73 PEX3 PEX19 PEX16 PEX1 GNPAT AGPS
5
Wax and plasmalogen biosynthesis 66
Show member pathways
 10.47 GNPAT AGPS
6
plasmalogen biosynthesis 61
10.26 GNPAT AGPS
Sources

GO Terms for Zellweger Syndrome

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Cellular components related to Zellweger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.68 ABCD3 PEX10 PEX11B PEX12 PEX13 PEX14
2 membrane GO:0016020 10.68 ABCD3 AGPS GNPAT PEX1 PEX10 PEX11B
3 cytosol GO:0005829 10.63 ABCD3 AGPS EHHADH GNPAT PEX1 PEX11B
4 peroxisomal membrane GO:0005778 10.39 ABCD3 AGPS GNPAT PEX1 PEX10 PEX11B
5 peroxisome GO:0005777 10.22 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
6 protein-containing complex GO:0032991 10.21 SCP2 PEX5 PEX3 PEX19 PEX14 PEX11B
7 peroxisomal matrix GO:0005782 10.03 SCP2 PEX5 GNPAT EHHADH AGPS ABCD3
8 peroxisomal importomer complex GO:1990429 9.8 PEX12 PEX13 PEX14
9 obsolete integral component of peroxisomal membrane GO:0005779 9.23 PEX11B PEX12 PEX13 PEX16 PEX2 PEX26

Biological processes related to Zellweger Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 peroxisome organization GO:0007031 10.22 ABCD3 PEX1 PEX10 PEX11B PEX12 PEX14
2 fatty acid beta-oxidation GO:0006635 10.15 SLC25A17 SCP2 PEX5 PEX2 EHHADH ABCD3
3 protein import into peroxisome membrane GO:0045046 10.02 PEX16 PEX19 PEX26 PEX3 PEX5
4 protein targeting to peroxisome GO:0006625 10 PEX6 PEX5 PEX19 PEX16 PEX12 PEX1
5 very long-chain fatty acid metabolic process GO:0000038 9.95 ABCD3 PEX2 PEX5
6 protein import into peroxisome matrix, docking GO:0016560 9.91 PEX5 PEX14 PEX13
7 protein import into peroxisome matrix GO:0016558 9.91 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
8 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.88 SCP2 EHHADH
9 cerebral cortex cell migration GO:0021795 9.88 PEX5 PEX13
10 peroxisome fission GO:0016559 9.87 PEX19 PEX11B
11 ether lipid biosynthetic process GO:0008611 9.86 GNPAT AGPS
12 fatty acid alpha-oxidation GO:0001561 9.85 SLC25A17 PEX13
13 microtubule-based peroxisome localization GO:0060152 9.8 PEX13 PEX1
14 protein import into peroxisome matrix, translocation GO:0016561 9.8 PEX6 PEX5 PEX14
15 protein to membrane docking GO:0022615 9.71 PEX26 PEX16
16 protein import into peroxisome matrix, substrate release GO:0044721 9.63 PEX5 PEX14
17 protein unfolding GO:0043335 9.52 PEX6 PEX1
18 pexophagy GO:0000425 9.51 PEX5 PEX2
19 protein import into peroxisome matrix, receptor recycling GO:0016562 9.1 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6

Molecular functions related to Zellweger Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.36 PEX6 PEX5 PEX26 PEX16 PEX12 PEX1
2 protein carrier chaperone GO:0140597 9.33 PEX5 PEX19
3 protein transporter activity GO:0140318 9.32 PEX6 PEX1
4 ubiquitin-dependent protein binding GO:0140036 9.26 PEX6 PEX1
5 peroxisome membrane targeting sequence binding GO:0033328 9.26 PEX5 PEX19
Sources

Sources for Zellweger Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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