ZS
MCID: ZLL001
MIFTS: 55

Zellweger Syndrome (ZS)

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Zellweger Syndrome

MalaCards integrated aliases for Zellweger Syndrome:

Name: Zellweger Syndrome 12 76 53 54 37 29 55 6 44 15 73
Cerebrohepatorenal Syndrome 12 53
Zellweger Leukodystrophy 53 73
Peroxisome Biogenesis Disorder 12
Congenital Iron Overload 12
Zws 53
Chr 53
Zs 53

Characteristics:

HPO:

32
zellweger syndrome:
Mortality/Aging death in infancy


Classifications:



Summaries for Zellweger Syndrome

NINDS : 54 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 d-bifunctional protein deficiency, 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 Bile Acids and Salts and Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related phenotypes are macrocephaly and high palate

Disease Ontology : 12 A peroxisomal disease 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 : 53 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.

Wikipedia : 76 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... 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 89)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 33.4 PEX1 PEX10
2 d-bifunctional protein deficiency 32.7 EHHADH PEX5
3 rhizomelic chondrodysplasia punctata, type 1 32.5 AGPS GNPAT PEX12 PEX2 PEX5
4 alpha-methylacetoacetic aciduria 32.2 PEX16 PEX5
5 zellweger spectrum disorder 32.2 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
6 peroxisome biogenesis disorder 11a 32.1 PEX1 PEX13
7 refsum disease, classic 31.7 GNPAT PEX14 PEX16 PEX5
8 peroxisome biogenesis disorder 11b 31.7 PEX1 PEX13
9 rhizomelic chondrodysplasia punctata, type 3 31.5 AGPS GNPAT PEX5
10 rhizomelic chondrodysplasia punctata, type 2 31.5 AGPS GNPAT PEX5
11 peroxisome biogenesis disorder 1b 30.5 ABCD3 GNPAT PEX1 PEX10 PEX12 PEX13
12 chondrodysplasia punctata syndrome 30.4 GNPAT PEX5
13 neonatal adrenoleukodystrophy 30.2 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
14 peroxisomal disease 30.1 AGPS GNPAT PEX1 PEX2 PEX5
15 rhizomelic chondrodysplasia punctata 29.9 AGPS GNPAT PEX26 PEX5
16 adrenoleukodystrophy 29.7 ABCD3 EHHADH PEX1 PEX10 PEX19 PEX26
17 peroxisomal biogenesis disorders 29.3 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
18 peroxisome biogenesis disorder 10b 12.6
19 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.3
20 heimler syndrome 1 12.0
21 heimler syndrome 2 12.0
22 peroxisome biogenesis disorder 5a 11.8
23 refsum disease, infantile form 11.3
24 peroxisome biogenesis disorder 2a 11.3
25 peroxisome biogenesis disorder 3a 11.3
26 peroxisome biogenesis disorder 4a 11.3
27 peroxisome biogenesis disorder 6a 11.3
28 peroxisome biogenesis disorder 7a 11.3
29 peroxisome biogenesis disorder 8a 11.3
30 peroxisome biogenesis disorder 10a 11.3
31 peroxisome biogenesis disorder 12a 11.3
32 peroxisome biogenesis disorder 13a 11.3
33 peroxisome biogenesis disorder 14b 11.1
34 peroxisomal acyl-coa oxidase deficiency 11.1
35 chronic sphenoidal sinusitis 11.0
36 combined hamartoma of the retina and retinal pigment epithelium 11.0
37 mental retardation, skeletal dysplasia, and abducens palsy 11.0
38 peroxisome biogenesis disorder 2b 11.0
39 peroxisome biogenesis disorder 3b 11.0
40 peroxisome biogenesis disorder 4b 11.0
41 peroxisome biogenesis disorder 5b 11.0
42 peroxisome biogenesis disorder 6b 11.0
43 peroxisome biogenesis disorder 7b 11.0
44 peroxisome biogenesis disorder 8b 11.0
45 peroxisome biogenesis disorder 9b 11.0
46 peroxisome disorders 10.4
47 deafness enamel hypoplasia nail defects 10.1 PEX1 PEX6
48 mitochondrial myopathy 10.1
49 myopathy 10.1
50 mulibrey nanism 10.1 PEX1 PEX5

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:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 frequent (33%) HP:0000256
2 high palate 32 frequent (33%) HP:0000218
3 nystagmus 32 frequent (33%) HP:0000639
4 seizures 32 frequent (33%) HP:0001250
5 failure to thrive 32 hallmark (90%) HP:0001508
6 respiratory insufficiency 32 hallmark (90%) HP:0002093
7 eeg abnormality 32 hallmark (90%) HP:0002353
8 cataract 32 frequent (33%) HP:0000518
9 hepatomegaly 32 hallmark (90%) HP:0002240
10 skeletal dysplasia 32 hallmark (90%) HP:0002652
11 depressed nasal bridge 32 hallmark (90%) HP:0005280
12 corneal opacity 32 hallmark (90%) HP:0007957
13 wide nasal bridge 32 hallmark (90%) HP:0000431
14 malabsorption 32 frequent (33%) HP:0002024
15 microcephaly 32 frequent (33%) HP:0000252
16 sensorineural hearing impairment 32 frequent (33%) HP:0000407
17 visual impairment 32 frequent (33%) HP:0000505
18 optic atrophy 32 frequent (33%) HP:0000648
19 short stature 32 hallmark (90%) HP:0004322
20 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
21 cognitive impairment 32 hallmark (90%) HP:0100543
22 micrognathia 32 frequent (33%) HP:0000347
23 epicanthus 32 hallmark (90%) HP:0000286
24 cryptorchidism 32 frequent (33%) HP:0000028
25 epiphyseal stippling 32 hallmark (90%) HP:0010655
26 flat face 32 hallmark (90%) HP:0012368
27 thickened nuchal skin fold 32 occasional (7.5%) HP:0000474
28 external ear malformation 32 hallmark (90%) HP:0008572
29 jaundice 32 hallmark (90%) HP:0000952
30 reduced tendon reflexes 32 hallmark (90%) HP:0001315
31 primary adrenal insufficiency 32 occasional (7.5%) HP:0008207
32 hypospadias 32 frequent (33%) HP:0000047
33 multicystic kidney dysplasia 32 frequent (33%) HP:0000003
34 glaucoma 32 occasional (7.5%) HP:0000501
35 upslanted palpebral fissure 32 hallmark (90%) HP:0000582
36 posterior embryotoxon 32 frequent (33%) HP:0000627
37 ventricular septal defect 32 occasional (7.5%) HP:0001629
38 flat occiput 32 frequent (33%) HP:0005469
39 high forehead 32 hallmark (90%) HP:0000348
40 wide anterior fontanel 32 hallmark (90%) HP:0000260
41 hepatic failure 32 hallmark (90%) HP:0001399
42 pyloric stenosis 32 frequent (33%) HP:0002021
43 abnormality of coagulation 32 occasional (7.5%) HP:0001928
44 hydronephrosis 32 frequent (33%) HP:0000126
45 polymicrogyria 32 frequent (33%) HP:0002126
46 premature birth 32 frequent (33%) HP:0001622
47 severe muscular hypotonia 32 hallmark (90%) HP:0006829
48 underdeveloped supraorbital ridges 32 frequent (33%) HP:0009891
49 abnormality of the tongue 32 occasional (7.5%) HP:0000157
50 profound global developmental delay 32 hallmark (90%) HP:0012736

UMLS symptoms related to Zellweger Syndrome:


seizures

MGI Mouse Phenotypes related to Zellweger Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ABCD3 AGPS EHHADH GNPAT PEX1 PEX10
2 liver/biliary system MP:0005370 9.43 ABCD3 EHHADH PEX1 PEX13 PEX2 PEX5
3 mortality/aging MP:0010768 9.32 AGPS EHHADH GNPAT PEX1 PEX10 PEX13

Drugs & Therapeutics for Zellweger Syndrome

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,Not Applicable
2 Cholic Acids Phase 3,Not Applicable
3 Gastrointestinal Agents Phase 3,Not Applicable
4 Liver Extracts Phase 3
5
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
10
Busulfan Approved, Investigational Phase 2 55-98-1 2478
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
14 Tocotrienol Investigational Phase 2 6829-55-6
15 Tocopherols Phase 2
16 Antilymphocyte Serum Phase 2
17 Vitamins Phase 2
18 Antimetabolites Phase 2
19 Immunosuppressive Agents Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Tocotrienols Phase 2
22 N-monoacetylcystine Phase 2
23 Alpha-lipoic Acid Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Alkylating Agents Phase 2
26 Immunologic Factors Phase 2
27 Thioctic Acid Phase 2
28
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
29
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
30 Cathartics Not Applicable
31 Laxatives Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis 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)
3 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
4 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Zellweger Syndrome

Cochrane evidence based reviews: zellweger syndrome

Genetic Tests for Zellweger Syndrome

Genetic tests related to Zellweger Syndrome:

# Genetic test Affiliating Genes
1 Zellweger Syndrome 29 PEX1

Anatomical Context for Zellweger Syndrome

MalaCards organs/tissues related to Zellweger Syndrome:

41
Liver, Kidney, Brain, Bone, Heart, Eye, Skin

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 285)
# Title Authors Year
1
Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes. ( 29773809 )
2018
2
Stippled Chondral Calcifications of the Patella in Zellweger Syndrome. ( 29246349 )
2018
3
Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report. ( 29414506 )
2018
4
A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma. ( 30224891 )
2018
5
Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease. ( 29619570 )
2018
6
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
7
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. ( 28432012 )
2017
8
Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome. ( 28330580 )
2017
9
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. ( 29047053 )
2017
10
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla. ( 28452594 )
2017
11
Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )
2016
12
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )
2016
13
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )
2016
14
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )
2015
15
First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )
2015
16
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
17
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )
2014
18
Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )
2014
19
Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )
2014
20
Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )
2014
21
Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )
2014
22
Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )
2014
23
Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )
2014
24
Child neurology: Zellweger syndrome. ( 23671347 )
2013
25
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )
2013
26
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )
2013
27
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )
2013
28
Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. ( 23716570 )
2013
29
Zellweger syndrome: an older child with progressive foot deformity. ( 27625860 )
2013
30
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )
2013
31
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )
2013
32
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
33
Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )
2013
34
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )
2012
35
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )
2012
36
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
37
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )
2011
38
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )
2011
39
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )
2011
40
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 21844578 )
2011
41
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )
2011
42
Zellweger syndrome: A cause of neonatal hypotonia and seizures. ( 27493320 )
2011
43
Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )
2010
44
The I94-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome. ( 20828389 )
2010
45
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )
2010
46
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )
2009
47
Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )
2009
48
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )
2009
49
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )
2009
50
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )
2009

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

6 (show top 50) (show all 1424)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh37 Chromosome 22, 18561276: 18561276
2 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh38 Chromosome 22, 18078510: 18078510
3 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
4 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
5 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
6 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh38 Chromosome 7, 92504812: 92504812
7 PEX1 NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del) deletion Pathogenic
8 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
9 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
10 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
11 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh37 Chromosome 6, 42946682: 42946682
12 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh38 Chromosome 6, 42978944: 42978944
13 PEX6 NM_000287.3(PEX6): c.235G> C (p.Ala79Pro) single nucleotide variant Benign/Likely benign rs61752141 GRCh37 Chromosome 6, 42946654: 42946654
14 PEX6 NM_000287.3(PEX6): c.235G> C (p.Ala79Pro) single nucleotide variant Benign/Likely benign rs61752141 GRCh38 Chromosome 6, 42978916: 42978916
15 PEX6 NM_000287.3(PEX6): c.2364G> A (p.Val788=) single nucleotide variant Benign/Likely benign rs2274515 GRCh37 Chromosome 6, 42933526: 42933526
16 PEX6 NM_000287.3(PEX6): c.2364G> A (p.Val788=) single nucleotide variant Benign/Likely benign rs2274515 GRCh38 Chromosome 6, 42965788: 42965788
17 PEX6 NM_000287.3(PEX6): c.2814G> A (p.Glu938=) single nucleotide variant Benign rs1129186 GRCh37 Chromosome 6, 42932202: 42932202
18 PEX6 NM_000287.3(PEX6): c.2814G> A (p.Glu938=) single nucleotide variant Benign rs1129186 GRCh38 Chromosome 6, 42964464: 42964464
19 PEX6 NM_000287.3(PEX6): c.2816C> A (p.Pro939Gln) single nucleotide variant Benign rs1129187 GRCh37 Chromosome 6, 42932200: 42932200
20 PEX6 NM_000287.3(PEX6): c.2816C> A (p.Pro939Gln) single nucleotide variant Benign rs1129187 GRCh38 Chromosome 6, 42964462: 42964462
21 PEX6 NM_000287.3(PEX6): c.399G> T (p.Val133=) single nucleotide variant Benign rs9462858 GRCh37 Chromosome 6, 42946490: 42946490
22 PEX6 NM_000287.3(PEX6): c.399G> T (p.Val133=) single nucleotide variant Benign rs9462858 GRCh38 Chromosome 6, 42978752: 42978752
23 PEX6 NM_000287.3(PEX6): c.883-3T> C single nucleotide variant Benign rs9986447 GRCh37 Chromosome 6, 42942779: 42942779
24 PEX6 NM_000287.3(PEX6): c.883-3T> C single nucleotide variant Benign rs9986447 GRCh38 Chromosome 6, 42975041: 42975041
25 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh37 Chromosome 8, 77896324: 77896324
26 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh38 Chromosome 8, 76984088: 76984088
27 PEX1 NM_000466.2(PEX1): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123409 GRCh37 Chromosome 7, 92131390: 92131390
28 PEX1 NM_000466.2(PEX1): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123409 GRCh38 Chromosome 7, 92502076: 92502076
29 PEX1 NM_000466.2(PEX1): c.2331C> A (p.Gly777=) single nucleotide variant Benign rs10278857 GRCh37 Chromosome 7, 92131289: 92131289
30 PEX1 NM_000466.2(PEX1): c.2331C> A (p.Gly777=) single nucleotide variant Benign rs10278857 GRCh38 Chromosome 7, 92501975: 92501975
31 PEX1 NM_000466.2(PEX1): c.2442C> T (p.Phe814=) single nucleotide variant Conflicting interpretations of pathogenicity rs145430946 GRCh37 Chromosome 7, 92130962: 92130962
32 PEX1 NM_000466.2(PEX1): c.2442C> T (p.Phe814=) single nucleotide variant Conflicting interpretations of pathogenicity rs145430946 GRCh38 Chromosome 7, 92501648: 92501648
33 PEX1 NM_000466.2(PEX1): c.2792C> A (p.Ala931Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144825021 GRCh37 Chromosome 7, 92123935: 92123935
34 PEX1 NM_000466.2(PEX1): c.2792C> A (p.Ala931Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144825021 GRCh38 Chromosome 7, 92494621: 92494621
35 PEX1 NM_000466.2(PEX1): c.330C> G (p.Pro110=) single nucleotide variant Conflicting interpretations of pathogenicity rs71560821 GRCh37 Chromosome 7, 92148336: 92148336
36 PEX1 NM_000466.2(PEX1): c.330C> G (p.Pro110=) single nucleotide variant Conflicting interpretations of pathogenicity rs71560821 GRCh38 Chromosome 7, 92519022: 92519022
37 PEX1 NM_000466.2(PEX1): c.358-15G> A single nucleotide variant Benign rs38809 GRCh37 Chromosome 7, 92147584: 92147584
38 PEX1 NM_000466.2(PEX1): c.358-15G> A single nucleotide variant Benign rs38809 GRCh38 Chromosome 7, 92518270: 92518270
39 PEX14 NM_004565.2(PEX14): c.384+14A> T single nucleotide variant Benign rs284238 GRCh37 Chromosome 1, 10678488: 10678488
40 PEX14 NM_004565.2(PEX14): c.384+14A> T single nucleotide variant Benign rs284238 GRCh38 Chromosome 1, 10618431: 10618431
41 PEX26 NM_017929.5(PEX26): c.728C> T (p.Ala243Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149153003 GRCh37 Chromosome 22, 18567938: 18567938
42 PEX26 NM_017929.5(PEX26): c.728C> T (p.Ala243Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149153003 GRCh38 Chromosome 22, 18085172: 18085172
43 PEX1 NM_000466.2(PEX1): c.2088A> G (p.Ile696Met) single nucleotide variant Benign/Likely benign rs35996821 GRCh37 Chromosome 7, 92132493: 92132493
44 PEX1 NM_000466.2(PEX1): c.2088A> G (p.Ile696Met) single nucleotide variant Benign/Likely benign rs35996821 GRCh38 Chromosome 7, 92503179: 92503179
45 PEX10 NM_153818.1(PEX10): c.279C> T (p.Gly93=) single nucleotide variant Benign/Likely benign rs1143016 GRCh37 Chromosome 1, 2340212: 2340212
46 PEX10 NM_153818.1(PEX10): c.279C> T (p.Gly93=) single nucleotide variant Benign/Likely benign rs1143016 GRCh38 Chromosome 1, 2408773: 2408773
47 PEX10 NM_153818.1(PEX10): c.291A> G (p.Thr97=) single nucleotide variant Benign rs2494598 GRCh37 Chromosome 1, 2340200: 2340200
48 PEX10 NM_153818.1(PEX10): c.291A> G (p.Thr97=) single nucleotide variant Benign rs2494598 GRCh38 Chromosome 1, 2408761: 2408761
49 PEX2 NM_000318.2(PEX2): c.748T> C (p.Trp250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142645936 GRCh37 Chromosome 8, 77895667: 77895667
50 PEX2 NM_000318.2(PEX2): c.748T> C (p.Trp250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142645936 GRCh38 Chromosome 8, 76983431: 76983431

Copy number variations for Zellweger Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Peroxisome hsa04146

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

# Super pathways Score Top Affiliating Genes
1 11.45 ABCD3 AGPS EHHADH GNPAT PEX1 PEX10
2
Show member pathways
10.86 AGPS EHHADH GNPAT
3
Show member pathways
10.52 AGPS GNPAT

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 peroxisomal membrane GO:0005778 9.83 ABCD3 AGPS GNPAT PEX1 PEX10 PEX12
2 peroxisomal matrix GO:0005782 9.62 ABCD3 AGPS EHHADH GNPAT
3 peroxisomal importomer complex GO:1990429 9.43 PEX12 PEX13 PEX14
4 integral component of peroxisomal membrane GO:0005779 9.17 PEX10 PEX12 PEX13 PEX16 PEX2 PEX26
5 membrane GO:0016020 10.24 ABCD3 AGPS GNPAT PEX1 PEX10 PEX12
6 peroxisome GO:0005777 10.06 ABCD3 AGPS EHHADH GNPAT PEX1 PEX10

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 PEX1 PEX13 PEX14 PEX26 PEX5
2 protein ubiquitination GO:0016567 9.88 PEX10 PEX12 PEX13 PEX14 PEX2 PEX5
3 peroxisome organization GO:0007031 9.7 ABCD3 PEX1 PEX10 PEX12 PEX14 PEX16
4 fatty acid beta-oxidation GO:0006635 9.67 ABCD3 EHHADH PEX2 PEX5
5 protein import into peroxisome membrane GO:0045046 9.65 PEX16 PEX19 PEX26 PEX3 PEX5
6 cellular lipid metabolic process GO:0044255 9.55 GNPAT PEX5
7 cerebral cortex cell migration GO:0021795 9.52 PEX13 PEX5
8 ether lipid biosynthetic process GO:0008611 9.51 AGPS GNPAT
9 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX13 PEX14 PEX5
10 peroxisome membrane biogenesis GO:0016557 9.49 PEX16 PEX3
11 microtubule-based peroxisome localization GO:0060152 9.48 PEX1 PEX13
12 negative regulation of protein homotetramerization GO:1901094 9.46 PEX14 PEX5
13 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
14 protein import into peroxisome matrix GO:0016558 9.28 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
15 protein targeting to peroxisome GO:0006625 10 AGPS EHHADH GNPAT PEX1 PEX10 PEX12

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 ABCD3 AGPS EHHADH PEX1 PEX10 PEX12
2 protein N-terminus binding GO:0047485 9.33 PEX14 PEX19 PEX5
3 ATPase activity, coupled GO:0042623 9.26 PEX1 PEX6
4 protein C-terminus binding GO:0008022 9.02 PEX1 PEX12 PEX16 PEX26 PEX6

Sources for Zellweger Syndrome

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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