ZS
MCID: ZLL001
MIFTS: 64

Zellweger Syndrome (ZS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Zellweger Syndrome

MalaCards integrated aliases for Zellweger Syndrome:

Name: Zellweger Syndrome 12 74 52 53 58 36 54 43 15 71
Cerebrohepatorenal Syndrome 12 52 58
Zellweger Leukodystrophy 52 71
Zs 52 58
Peroxisome Biogenesis Disorder 12
Congenital Iron Overload 12
Zws 52
Chr 52

Characteristics:

Orphanet epidemiological data:

58
zellweger syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal; Age of death: early childhood;

HPO:

31
zellweger syndrome:
Clinical modifier death in infancy


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Zellweger Syndrome

NINDS : 53 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 zellweger spectrum disorder and peroxisome biogenesis disorder 1a, and has symptoms including seizures An important gene associated with Zellweger Syndrome is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisome and Peroxisomal lipid metabolism. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are failure to thrive and eeg abnormality

Disease Ontology : 12 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.

NIH Rare Diseases : 52 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. Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes ; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.

KEGG : 36 Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. This disease is caused by mutation of peroxisomal biogenesis factor (PEX) genes. Due to the deficiency of functional peroxisomes, several metabolite abnormalities are usually found in ZS patients. Typically, patients accumulate C27-bile acid intermediates.

Wikipedia : 74 Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional... more...

Related Diseases for Zellweger Syndrome

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 216)
# Related Disease Score Top Affiliating Genes
1 zellweger spectrum disorder 34.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
2 peroxisome biogenesis disorder 1a 34.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
3 d-bifunctional protein deficiency 34.2 SLC25A17 SCP2 PEX6 PEX26 PEX10 HSD17B4
4 peroxisome biogenesis disorder 1b 33.5 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
5 rhizomelic chondrodysplasia punctata, type 3 33.4 SCP2 PEX5 GNPAT AGPS
6 rhizomelic chondrodysplasia punctata, type 2 33.4 SCP2 PEX5 GNPAT AGPS
7 neonatal adrenoleukodystrophy 33.1 SCP2 PEX6 PEX5 PEX3 PEX26 PEX2
8 refsum disease, classic 33.0 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
9 peroxisomal acyl-coa oxidase deficiency 32.7 SCP2 HSD17B4
10 adrenoleukodystrophy 31.8 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
11 peroxisomal disease 31.7 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
12 chondrodysplasia punctata syndrome 31.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX16
13 rhizomelic chondrodysplasia punctata 31.3 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
14 deafness enamel hypoplasia nail defects 31.3 PEX6 PEX1
15 peroxisomal biogenesis disorder 31.3 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
16 leukodystrophy 31.0 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
17 rhizomelic chondrodysplasia punctata, type 5 30.9 PEX5 PEX14 GNPAT AGPS
18 rhizomelic chondrodysplasia punctata, type 1 30.8 SCP2 PEX6 PEX5 PEX13 HSD17B4 GNPAT
19 acatalasemia 30.7 SLC25A17 PEX5 PEX3
20 sensorineural hearing loss 30.7 PEX6 PEX26 PEX12 PEX10 PEX1
21 peroxisome biogenesis disorder 10b 12.8
22 peroxisome biogenesis disorder 5a 12.1
23 peroxisome biogenesis disorder 10a 11.7
24 peroxisome biogenesis disorder 8a 11.7
25 peroxisome biogenesis disorder 2a 11.7
26 peroxisome biogenesis disorder 3a 11.7
27 peroxisome biogenesis disorder 6a 11.7
28 peroxisome biogenesis disorder 7a 11.7
29 peroxisome biogenesis disorder 11a 11.7
30 peroxisome biogenesis disorder 12a 11.7
31 peroxisome biogenesis disorder 13a 11.7
32 alpha-methylacetoacetic aciduria 11.7
33 peroxisome biogenesis disorder 14b 11.6
34 refsum disease, infantile form 11.5
35 peroxisome biogenesis disorder 5b 11.5
36 peroxisome biogenesis disorder 7b 11.4
37 peroxisome biogenesis disorder 4a 11.4
38 chronic sphenoidal sinusitis 11.2
39 combined hamartoma of the retina and retinal pigment epithelium 11.2
40 mental retardation, skeletal dysplasia, and abducens palsy 11.2
41 peroxisome biogenesis disorder 2b 11.1
42 peroxisome biogenesis disorder 3b 11.1
43 peroxisome biogenesis disorder 4b 11.1
44 peroxisome biogenesis disorder 6b 11.1
45 peroxisome biogenesis disorder 8b 11.1
46 peroxisome biogenesis disorder 9b 11.1
47 peroxisome biogenesis disorder 11b 11.1
48 adrenomyeloneuropathy 10.7
49 hypotonia 10.6
50 alpha-methylacyl-coa racemase deficiency 10.6 SCP2 PEX6 PEX26 HSD17B4

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



Diseases related to Zellweger Syndrome

Symptoms & Phenotypes for Zellweger Syndrome

Human phenotypes related to Zellweger Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
5 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
6 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
7 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
8 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
11 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
12 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
13 epiphyseal stippling 58 31 hallmark (90%) Very frequent (99-80%) HP:0010655
14 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
15 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
16 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
17 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
18 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
19 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
20 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
21 wide anterior fontanel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000260
22 severe muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006829
23 very long chain fatty acid accumulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008167
24 profound global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0012736
25 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
26 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
27 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
28 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
29 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
30 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
31 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
32 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
33 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
34 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
35 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
36 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
37 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
38 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
39 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
40 posterior embryotoxon 58 31 frequent (33%) Frequent (79-30%) HP:0000627
41 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
42 pyloric stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0002021
43 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
44 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126
45 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891
46 clitoral hypertrophy 31 frequent (33%) HP:0008665
47 abnormal chorioretinal morphology 31 frequent (33%) HP:0000532
48 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
49 thickened nuchal skin fold 58 31 occasional (7.5%) Occasional (29-5%) HP:0000474
50 primary adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008207

UMLS symptoms related to Zellweger Syndrome:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.02 PEX16 PEX26
2 Decreased viability GR00381-A-1 10.02 GNPAT
3 Decreased viability GR00402-S-2 10.02 ABCD3 AGPS EHHADH GNPAT HSD17B4 PEX1
4 no effect GR00402-S-1 9.62 ABCD3 AGPS EHHADH GNPAT HSD17B4 PEX1

MGI Mouse Phenotypes related to Zellweger Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 ABCD3 EHHADH GNPAT HSD17B4 PEX1 PEX10
2 homeostasis/metabolism MP:0005376 10 ABCD3 AGPS EHHADH GNPAT HSD17B4 PEX1
3 liver/biliary system MP:0005370 9.61 ABCD3 EHHADH HSD17B4 PEX1 PEX11B PEX13
4 mortality/aging MP:0010768 9.4 AGPS EHHADH GNPAT HSD17B4 PEX1 PEX10

Drugs & Therapeutics for Zellweger Syndrome

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

(show all 38)
# 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 Cholic Acids Phase 3
4 Bile Acids and Salts Phase 3
5 Hypolipidemic Agents Phase 3
6 Lipid Regulating Agents Phase 3
7 Liver Extracts Phase 3
8
Hydroxychloroquine Approved Phase 2 118-42-3 3652
9
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
rituximab Approved Phase 2 174722-31-7 10201696
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Antimetabolites Phase 2
20 Anti-Infective Agents Phase 2
21 Antimalarials Phase 2
22 Antiprotozoal Agents Phase 2
23 Antiparasitic Agents Phase 2
24 Antirheumatic Agents Phase 2
25 Immunologic Factors Phase 2
26 Alkylating Agents Phase 2
27 N-monoacetylcystine Phase 2
28 Tocopherols Phase 2
29 Alpha-lipoic Acid Phase 2
30 Tocotrienols Phase 2
31 Antilymphocyte Serum Phase 2
32 Thioctic Acid Phase 2
33 Immunosuppressive Agents Phase 2
34 Vitamins Phase 2
35
chenodeoxycholic acid Approved 474-25-9 10133
36
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
37 Cathartics
38 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
2 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 Completed NCT00007020 Phase 3 Cholic Acids
3 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
4 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)
5 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
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

Genetic Tests for Zellweger Syndrome

Anatomical Context for Zellweger Syndrome

MalaCards organs/tissues related to Zellweger Syndrome:

40
Liver, Kidney, Eye, Brain, Skin, Heart, Bone

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 749)
# Title Authors PMID Year
1
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. 54 61 6
11890679 2002
2
Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. 54 61 6
10958759 2000
3
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. 54 61 6
10968777 2000
4
Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. 54 61 6
10942428 2000
5
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 54 61 6
10862081 2000
6
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. 54 61 6
10051604 1999
7
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. 54 61 6
10408779 1999
8
Identification of a common PEX1 mutation in Zellweger syndrome. 54 61 6
10447258 1999
9
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. 54 61 6
9837814 1998
10
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 54 61 6
9683594 1998
11
PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. 54 61 6
9632816 1998
12
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 54 61 6
9539740 1998
13
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 54 61 6
8940266 1996
14
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 54 61 6
1301993 1992
15
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 61 6
26387595 2015
16
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder. 61 6
26094004 2015
17
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 61 6
23590336 2014
18
Genetics and molecular basis of human peroxisome biogenesis disorders. 61 6
22871920 2012
19
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 61 6
19449432 2009
20
Identification of a novel PEX14 mutation in Zellweger syndrome. 61 6
18285423 2008
21
Preimplantation genetic diagnosis for Zellweger syndrome. 61 6
17336976 2007
22
Peroxisome biogenesis disorders. 61 6
17055079 2006
23
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 61 6
17041890 2006
24
Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. 61 6
15146459 2004
25
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 61 6
14630978 2004
26
Zellweger Spectrum Disorder 61 6
20301621 2003
27
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 61 6
12851857 2003
28
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 61 6
12794690 2003
29
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 61 6
12402331 2002
30
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 61 6
10528859 1999
31
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 61 6
10332040 1999
32
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 61 6
9700193 1998
33
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 61 6
9398848 1997
34
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group. 61 6
7562283 1995
35
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 61 6
7541833 1995
36
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 61 6
1546315 1992
37
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 61 6
2454948 1988
38
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 6
23430938 2012
39
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. 6
20683989 2010
40
Mutations in PEX10 are a cause of autosomal recessive ataxia. 6
20695019 2010
41
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 6
15858711 2005
42
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 6
15184617 2004
43
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
44
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 6
9792857 1998
45
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
46
PEX12 encodes an integral membrane protein of peroxisomes. 6
9354782 1997
47
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. 6
9090384 1997
48
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 6
8670792 1996
49
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 6
7719337 1995
50
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. 6
2063923 1991

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

6 (show top 50) (show all 734) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)duplication Pathogenic 203390 rs794729652 7:92120644-92120645 7:92491330-92491331
2 PEX1 NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)deletion Pathogenic 7518 rs1554372074
3 PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs)duplication Pathogenic 7519 rs61750415 7:92132483-92132484 7:92503169-92503170
4 PEX1 PEX1, 1-BP DEL, 2916Adeletion Pathogenic 7520
5 PEX1 NM_000466.3(PEX1):c.1239+1G>TSNV Pathogenic 217430 rs756876301 7:92146589-92146589 7:92517275-92517275
6 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562
7 PEX1 NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)SNV Pathogenic 371698 rs1057517467 7:92119090-92119090 7:92489776-92489776
8 PEX1 NM_000466.3(PEX1):c.2922del (p.Leu974fs)deletion Pathogenic 371696 rs762324548 7:92123805-92123805 7:92494491-92494491
9 PEX1 NM_000466.3(PEX1):c.2T>C (p.Met1Thr)SNV Pathogenic 371746 rs766020928 7:92157748-92157748 7:92528434-92528434
10 PEX1 NM_000466.3(PEX1):c.1A>T (p.Met1Leu)SNV Pathogenic 371744 rs1057517501 7:92157749-92157749 7:92528435-92528435
11 PEX1 NM_000466.3(PEX1):c.3579del (p.Asp1194fs)deletion Pathogenic 488572 rs1554366802 7:92119085-92119085 7:92489771-92489771
12 PEX1 NC_000007.13:g.(?_92118587)_(92120836_?)deldeletion Pathogenic 528228 7:92118587-92120836 7:92489273-92491522
13 PEX1 NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)SNV Pathogenic 561079 rs1562846113 7:92122269-92122269 7:92492955-92492955
14 PEX1 NM_000466.3(PEX1):c.1927del (p.Thr643fs)deletion Pathogenic 576112 rs1554372180 7:92134190-92134190 7:92504876-92504876
15 PEX3 NM_003630.3(PEX3):c.942-8T>GSNV Pathogenic 631556 rs267608193 6:143806281-143806281 6:143485144-143485144
16 PEX1 NM_000466.3(PEX1):c.2471del (p.Ala824fs)deletion Pathogenic 665163 7:92130933-92130933 7:92501619-92501619
17 PEX1 NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)SNV Pathogenic 639480 7:92146666-92146666 7:92517352-92517352
18 PEX1 NM_000466.3(PEX1):c.1108dup (p.Ile370fs)duplication Pathogenic 644707 rs61750406 7:92146720-92146721 7:92517406-92517407
19 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)SNV Pathogenic 632939 rs61750417 7:92131252-92131252 7:92501938-92501938
20 PEX1 NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)SNV Pathogenic/Likely pathogenic 558040 rs762679408 7:92157745-92157745 7:92528431-92528431
21 PEX1 NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)SNV Pathogenic/Likely pathogenic 495880 rs61750428 7:92123645-92123645 7:92494331-92494331
22 PEX1 NM_000466.3(PEX1):c.2T>G (p.Met1Arg)SNV Pathogenic/Likely pathogenic 371688 rs766020928 7:92157748-92157748 7:92528434-92528434
23 PEX6 NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)SNV Pathogenic/Likely pathogenic 555170 rs61753229 6:42933455-42933455 6:42965717-42965717
24 PEX1 NM_000466.3(PEX1):c.1908del (p.Arg636fs)deletion Pathogenic/Likely pathogenic 371713 rs1057517478 7:92134209-92134209 7:92504895-92504895
25 PEX1 NM_000466.3(PEX1):c.3208-1G>ASNV Pathogenic/Likely pathogenic 371765 rs1057517518 7:92120817-92120817 7:92491503-92491503
26 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)SNV Pathogenic/Likely pathogenic 371782 rs149806989 7:92147282-92147282 7:92517968-92517968
27 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp)duplication Pathogenic/Likely pathogenic 93102 rs398123408 7:92134156-92134157 7:92504842-92504843
28 PEX1 NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)SNV Pathogenic/Likely pathogenic 93104 rs398123409 7:92131390-92131390 7:92502076-92502076
29 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs)deletion Pathogenic/Likely pathogenic 188910 rs749067142 7:92147046-92147047 7:92517732-92517733
30 PEX1 NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs)short repeat Pathogenic/Likely pathogenic 188981 rs769836601 7:92118678-92118681 7:92489364-92489367
31 PEX1 NM_000466.3(PEX1):c.2926+1G>ASNV Pathogenic/Likely pathogenic 188729 rs267608179 7:92123800-92123800 7:92494486-92494486
32 PEX1 NM_000466.3(PEX1):c.2916del (p.Gly973fs)deletion Pathogenic/Likely pathogenic 189043 rs61750426 7:92123811-92123811 7:92494497-92494497
33 PEX1 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)SNV Pathogenic/Likely pathogenic 188873 rs61750418 7:92131237-92131237 7:92501923-92501923
34 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs)short repeat Likely pathogenic 188984 rs786204606 7:92136394-92136395 7:92507080-92507081
35 PEX1 NM_000466.3(PEX1):c.1499_1500CT[1] (p.Leu501fs)short repeat Likely pathogenic 189165 rs786204743 7:92140343-92140344 7:92511029-92511030
36 PEX1 NM_000466.3(PEX1):c.909_910CT[1] (p.Ser304fs)short repeat Likely pathogenic 189029 rs786204638 7:92146917-92146918 7:92517603-92517604
37 PEX1 NM_000466.3(PEX1):c.2730del (p.Leu910fs)deletion Likely pathogenic 188971 rs61750423 7:92126080-92126080 7:92496766-92496766
38 PEX1 NM_000466.3(PEX1):c.2387_2388TC[2] (p.Arg798fs)short repeat Likely pathogenic 188851 rs61750414 7:92131228-92131229 7:92501914-92501915
39 PEX1 NM_000466.3(PEX1):c.2926+2T>CSNV Likely pathogenic 189002 rs267608180 7:92123799-92123799 7:92494485-92494485
40 PEX1 NM_000466.3(PEX1):c.643_647del (p.Thr215fs)deletion Likely pathogenic 188897 rs786204544 7:92147182-92147186 7:92517868-92517872
41 PEX1 NM_000466.3(PEX1):c.3G>A (p.Met1Ile)SNV Likely pathogenic 189106 rs786204704 7:92157747-92157747 7:92528433-92528433
42 PEX1 NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)SNV Likely pathogenic 7517 rs121434455 7:92134126-92134126 7:92504812-92504812
43 PEX1 NM_000466.3(PEX1):c.431dup (p.Val145fs)duplication Likely pathogenic 371752 rs1057517506 7:92147495-92147496 7:92518181-92518182
44 PEX1 NM_000466.3(PEX1):c.358-1G>TSNV Likely pathogenic 371714 rs1057517479 7:92147570-92147570 7:92518256-92518256
45 PEX1 NM_000466.3(PEX1):c.358-2A>GSNV Likely pathogenic 371743 rs1057517500 7:92147571-92147571 7:92518257-92518257
46 PEX1 NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)SNV Likely pathogenic 371724 rs1057517487 7:92148318-92148318 7:92519004-92519004
47 PEX1 NM_000466.3(PEX1):c.130-1G>CSNV Likely pathogenic 371711 rs1028247729 7:92151560-92151560 7:92522246-92522246
48 PEX1 NM_000466.3(PEX1):c.2927-2A>GSNV Likely pathogenic 371784 rs1057517531 7:92123712-92123712 7:92494398-92494398
49 PEX1 NM_000466.3(PEX1):c.1842del (p.Glu615fs)deletion Likely pathogenic 371703 rs267608176 7:92135620-92135620 7:92506306-92506306
50 PEX1 NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)SNV Likely pathogenic 371726 rs1057517489 7:92136346-92136346 7:92507032-92507032

Copy number variations for Zellweger Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 215229 6 73300000 149100000 Copy number PEX3 Zellweger syndrome

Expression for Zellweger Syndrome

Search GEO for disease gene expression data for Zellweger Syndrome.

Pathways for Zellweger Syndrome

Pathways related to Zellweger Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Peroxisome hsa04146

GO Terms for Zellweger Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.35 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
2 peroxisomal membrane GO:0005778 9.91 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
3 protein-containing complex GO:0032991 9.88 SCP2 PEX5 PEX3 PEX19 PEX14 PEX11B
4 integral component of peroxisomal membrane GO:0005779 9.76 SLC25A17 PEX3 PEX26 PEX2 PEX16 PEX13
5 peroxisomal matrix GO:0005782 9.73 SCP2 HSD17B4 GNPAT EHHADH AGPS ABCD3
6 peroxisome GO:0005777 9.62 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
7 peroxisomal importomer complex GO:1990429 9.5 PEX14 PEX13 PEX12

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.99 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 9.99 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 protein import into peroxisome matrix GO:0016558 9.81 PEX6 PEX5 PEX26 PEX2 PEX16 PEX14
4 fatty acid beta-oxidation GO:0006635 9.8 SLC25A17 PEX5 PEX2 HSD17B4 EHHADH ABCD3
5 peroxisome organization GO:0007031 9.77 SCP2 PEX6 PEX5 PEX3 PEX2 PEX19
6 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
7 bile acid biosynthetic process GO:0006699 9.6 SCP2 HSD17B4
8 cellular lipid metabolic process GO:0044255 9.58 PEX5 GNPAT
9 very long-chain fatty acid metabolic process GO:0000038 9.58 PEX2 HSD17B4
10 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.58 SCP2 HSD17B4 EHHADH
11 alpha-linolenic acid metabolic process GO:0036109 9.57 SCP2 HSD17B4
12 cerebral cortex cell migration GO:0021795 9.56 PEX5 PEX13
13 peroxisome fission GO:0016559 9.55 PEX19 PEX11B
14 fatty acid alpha-oxidation GO:0001561 9.54 SLC25A17 PEX13
15 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX5 PEX14 PEX13
16 protein targeting to peroxisome GO:0006625 9.53 SCP2 PEX6 PEX5 PEX26 PEX2 PEX19
17 ether lipid biosynthetic process GO:0008611 9.52 GNPAT AGPS
18 peroxisome membrane biogenesis GO:0016557 9.49 PEX3 PEX16
19 negative regulation of protein homotetramerization GO:1901094 9.48 PEX5 PEX14
20 microtubule-based peroxisome localization GO:0060152 9.46 PEX13 PEX1
21 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX6 PEX14

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.11 SLC25A17 SCP2 PEX6 PEX5 PEX3 PEX26
2 protein N-terminus binding GO:0047485 9.5 PEX5 PEX19 PEX14
3 ATPase activity, coupled GO:0042623 9.37 PEX6 PEX1
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.26 HSD17B4 EHHADH
5 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1
6 long-chain-enoyl-CoA hydratase activity GO:0016508 8.96 HSD17B4 EHHADH

Sources for Zellweger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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