MCID: ZLL001
MIFTS: 58

Zellweger Syndrome

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Zellweger Syndrome

Summaries for Zellweger Syndrome

NINDS : 51 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 1b and peroxisome biogenesis disorder 9b, and has symptoms including multicystic kidney dysplasia, cryptorchidism and hypospadias. 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 homeostasis/metabolism and liver/biliary system

NIH Rare Diseases : 50 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. last updated: 12/7/2014

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.

Wikipedia : 72 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... more...

Related Diseases for Zellweger Syndrome

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

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 32.2 PEX1 PEX10
2 peroxisome biogenesis disorder 9b 29.2 AGPS GNPAT PEX12 PEX2 PEX5
3 peroxisome biogenesis disorders, zellweger syndrome spectrum 12.3
4 peroxisome biogenesis disorder 1a 11.6
5 d-bifunctional protein deficiency 11.5
6 peroxisome biogenesis disorder 5a 11.5
7 neonatal adrenoleukodystrophy 11.1
8 refsum disease 11.1
9 peroxisome biogenesis disorder 6a 11.0
10 peroxisome biogenesis disorder 13a 11.0
11 peroxisome biogenesis disorder 12a 11.0
12 peroxisome biogenesis disorder 11a 11.0
13 peroxisome biogenesis disorder 4a 11.0
14 peroxisome biogenesis disorder 10a 11.0
15 peroxisome biogenesis disorder 8a 11.0
16 peroxisome biogenesis disorder 2a 11.0
17 peroxisome biogenesis disorder 3a 11.0
18 peroxisome biogenesis disorder 7a 11.0
19 peroxisome biogenesis disorder 14b 10.8
20 peroxisomal acyl-coa oxidase deficiency 10.8
21 alpha-methylacetoacetic aciduria 10.8
22 peroxisome biogenesis disorder 6b 10.7
23 peroxisome biogenesis disorder 11b 10.7
24 peroxisome biogenesis disorder 4b 10.7
25 peroxisome biogenesis disorder 5b 10.7
26 peroxisome biogenesis disorder 8b 10.7
27 peroxisome biogenesis disorder 2b 10.7
28 peroxisome biogenesis disorder 3b 10.7
29 peroxisome biogenesis disorder 7b 10.7
30 refsum disease, infantile form 10.7
31 deafness hypospadias metacarpal and metatarsal syndrome 10.3 PEX1 PEX6
32 adrenoleukodystrophy 10.2
33 peroxisome disorders 10.2
34 klippel-feil syndrome 1 10.1 PEX2 PEX6
35 growth hormone deficiency, isolated, type ia 10.1 PEX1 PEX5
36 rhizomelic chondrodysplasia punctata 10.0
37 neuronitis 10.0
38 peroxisomal biogenesis disorders 10.0
39 myopathy 9.9
40 hepatitis 9.8
41 peroxisomal disease 9.8
42 neuronal migration disorders 9.8
43 perrault syndrome 1 9.8 EHHADH PEX5
44 band heterotopia 9.7
45 hemosiderosis 9.7
46 neuroaxonal dystrophy 9.7
47 cerebritis 9.7
48 retinitis 9.7
49 corneal ulcer 9.7
50 hydrops fetalis 9.7

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)
id Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 32 frequent (33%) HP:0000003
2 cryptorchidism 32 frequent (33%) HP:0000028
3 hypospadias 32 frequent (33%) HP:0000047
4 hydronephrosis 32 frequent (33%) HP:0000126
5 abnormality of the tongue 32 occasional (7.5%) HP:0000157
6 high palate 32 frequent (33%) HP:0000218
7 microcephaly 32 frequent (33%) HP:0000252
8 macrocephaly 32 frequent (33%) HP:0000256
9 wide anterior fontanel 32 hallmark (90%) HP:0000260
10 epicanthus 32 hallmark (90%) HP:0000286
11 micrognathia 32 frequent (33%) HP:0000347
12 high forehead 32 hallmark (90%) HP:0000348
13 sensorineural hearing impairment 32 frequent (33%) HP:0000407
14 wide nasal bridge 32 hallmark (90%) HP:0000431
15 thickened nuchal skin fold 32 occasional (7.5%) HP:0000474
16 glaucoma 32 occasional (7.5%) HP:0000501
17 visual impairment 32 frequent (33%) HP:0000505
18 cataract 32 frequent (33%) HP:0000518
19 chorioretinal abnormality 32 frequent (33%) HP:0000532
20 upslanted palpebral fissure 32 hallmark (90%) HP:0000582
21 posterior embryotoxon 32 frequent (33%) HP:0000627
22 nystagmus 32 frequent (33%) HP:0000639
23 optic atrophy 32 frequent (33%) HP:0000648
24 jaundice 32 hallmark (90%) HP:0000952
25 brushfield spots 32 occasional (7.5%) HP:0001088
26 seizures 32 frequent (33%) HP:0001250
27 reduced tendon reflexes 32 hallmark (90%) HP:0001315
28 hepatic failure 32 hallmark (90%) HP:0001399
29 failure to thrive 32 hallmark (90%) HP:0001508
30 premature birth 32 frequent (33%) HP:0001622
31 ventricular septal defect 32 occasional (7.5%) HP:0001629
32 abnormality of coagulation 32 occasional (7.5%) HP:0001928
33 pyloric stenosis 32 frequent (33%) HP:0002021
34 malabsorption 32 frequent (33%) HP:0002024
35 respiratory insufficiency 32 hallmark (90%) HP:0002093
36 polymicrogyria 32 frequent (33%) HP:0002126
37 hepatomegaly 32 hallmark (90%) HP:0002240
38 eeg abnormality 32 hallmark (90%) HP:0002353
39 skeletal dysplasia 32 hallmark (90%) HP:0002652
40 short stature 32 hallmark (90%) HP:0004322
41 depressed nasal bridge 32 hallmark (90%) HP:0005280
42 flat occiput 32 frequent (33%) HP:0005469
43 severe muscular hypotonia 32 hallmark (90%) HP:0006829
44 corneal opacity 32 hallmark (90%) HP:0007957
45 very long chain fatty acid accumulation 32 hallmark (90%) HP:0008167
46 primary adrenal insufficiency 32 occasional (7.5%) HP:0008207
47 external ear malformation 32 hallmark (90%) HP:0008572
48 clitoral hypertrophy 32 frequent (33%) HP:0008665
49 feeding difficulties in infancy 32 hallmark (90%) HP:0008872
50 underdeveloped supraorbital ridges 32 frequent (33%) HP:0009891

UMLS symptoms related to Zellweger Syndrome:


seizures

MGI Mouse Phenotypes related to Zellweger Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 PEX10 PEX13 PEX2 PEX26 PEX3 PEX5
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 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 3
2 Cholic Acids Phase 3
3 Gastrointestinal Agents Phase 3
4 Liver Extracts Phase 3
5
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
rituximab Approved Phase 2 174722-31-7 10201696
11 Thiotepa Approved Phase 2 52-24-4 5453
12 Tocopherol Approved, Nutraceutical Phase 2
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
14 Alkylating Agents Phase 2
15 Antilymphocyte Serum Phase 2
16 Antimetabolites Phase 2
17 Antimetabolites, Antineoplastic Phase 2
18 Immunosuppressive Agents Phase 2
19 N-monoacetylcystine Phase 2
20 Thioctic Acid Phase 2
21 Tocopherols Phase 2
22 Tocotrienols Phase 2
23 Vitamins Phase 2
24 Alpha-lipoic Acid Nutraceutical Phase 2
25 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
26
chenodeoxycholic acid Approved 474-25-9 10133
27
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
28 Cathartics
29 Laxatives

Interventional clinical trials:


id 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 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

Genetic tests related to Zellweger Syndrome:

id Genetic test Affiliating Genes
1 Zellweger Syndrome 29 24

Anatomical Context for Zellweger Syndrome

MalaCards organs/tissues related to Zellweger Syndrome:

39
Liver, Kidney, Brain, Eye, Bone, Heart, Skin

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 265)
id Title Authors Year
1
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
2
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla. ( 28452594 )
2017
3
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. ( 28432012 )
2017
4
Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome. ( 28330580 )
2017
5
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )
2016
6
Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )
2016
7
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )
2016
8
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )
2015
9
First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )
2015
10
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
11
Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )
2014
12
Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )
2014
13
Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )
2014
14
Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )
2014
15
Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )
2014
16
Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )
2014
17
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )
2014
18
Child neurology: Zellweger syndrome. ( 23671347 )
2013
19
Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )
2013
20
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )
2013
21
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )
2013
22
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
23
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )
2013
24
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )
2013
25
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
26
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )
2013
27
Zellweger syndrome: an older child with progressive foot deformity. ( 27625860 )
2013
28
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )
2012
29
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )
2012
30
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
31
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )
2011
32
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )
2011
33
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )
2011
34
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )
2011
35
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 21844578 )
2011
36
Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )
2010
37
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )
2010
38
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
39
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
40
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )
2009
41
Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )
2009
42
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )
2009
43
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )
2009
44
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )
2009
45
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
46
Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome. ( 18983586 )
2008
47
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 18285423 )
2008
48
Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome). ( 17272920 )
2007
49
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. ( 17702006 )
2007
50
Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome. ( 17399899 )
2007

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
2 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
3 PEX1 NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del) deletion Pathogenic
4 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
5 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
6 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh38 Chromosome 7, 92494486: 92494486
7 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
8 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh38 Chromosome 7, 92501923: 92501923
9 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
10 PEX1 NM_000466.2(PEX1): c.1131delA (p.Asp378Metfs) deletion Pathogenic rs886043479 GRCh37 Chromosome 7, 92146698: 92146698
11 PEX1 NM_000466.2(PEX1): c.3304_3305insAT (p.Cys1102Tyrfs) insertion Pathogenic rs886043558 GRCh37 Chromosome 7, 92120719: 92120720
12 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
13 PEX1 NM_000466.2(PEX1): c.2922delA (p.Leu974Phefs) deletion Pathogenic/Likely pathogenic rs762324548 GRCh38 Chromosome 7, 92494491: 92494491
14 PEX1 NM_000466.2(PEX1): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs149806989 GRCh38 Chromosome 7, 92517968: 92517968
15 PEX1 NM_000466.2(PEX1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs766020928 GRCh38 Chromosome 7, 92528434: 92528434

Copy number variations for Zellweger Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

id 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:

id 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 9.56 ABCD3 AGPS EHHADH GNPAT
3 peroxisomal importomer complex GO:1990429 9.37 PEX12 PEX14
4 integral component of peroxisomal membrane GO:0005779 9.17 PEX10 PEX12 PEX13 PEX16 PEX2 PEX26
5 membrane GO:0016020 10.2 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 14)
id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 PEX1 PEX13 PEX14 PEX26 PEX5
2 peroxisome organization GO:0007031 9.7 ABCD3 PEX1 PEX10 PEX12 PEX14 PEX16
3 fatty acid beta-oxidation GO:0006635 9.67 ABCD3 EHHADH PEX2 PEX5
4 protein targeting to peroxisome GO:0006625 9.65 PEX1 PEX12 PEX16 PEX19 PEX6
5 protein import into peroxisome membrane GO:0045046 9.55 PEX16 PEX19 PEX26 PEX3 PEX5
6 cellular lipid metabolic process GO:0044255 9.52 GNPAT PEX5
7 cerebral cortex cell migration GO:0021795 9.51 PEX13 PEX5
8 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX13 PEX14 PEX5
9 ether lipid biosynthetic process GO:0008611 9.49 AGPS GNPAT
10 peroxisome membrane biogenesis GO:0016557 9.48 PEX16 PEX3
11 protein import into peroxisome matrix, translocation GO:0016561 9.46 PEX14 PEX6
12 negative regulation of protein homotetramerization GO:1901094 9.43 PEX14 PEX5
13 microtubule-based peroxisome localization GO:0060152 9.4 PEX1 PEX13
14 protein import into peroxisome matrix GO:0016558 9.23 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2

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

id 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 9.43 PEX14 PEX19 PEX5
3 ATPase activity, coupled GO:0042623 9.16 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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