ZS
MCID: ZLL001
MIFTS: 56

Zellweger Syndrome (ZS) malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Zellweger Syndrome

Aliases & Descriptions for Zellweger Syndrome:

Name: Zellweger Syndrome 12 50 24 51 52 42 14 69
Cerebrohepatorenal Syndrome 12 50 24
Zellweger Leukodystrophy 50 69
Zs 50 24
Peroxisome Biogenesis Disorder 12
Congenital Iron Overload 12
Zellweger's Syndrome 29
Chr 50
Zws 50

Characteristics:

HPO:

32
zellweger syndrome:
Mortality/Aging death in infancy


Classifications:



External Ids:

Disease Ontology 12 DOID:905
ICD10 33 E71.510
MeSH 42 D015211
NCIt 47 C85239
SNOMED-CT 64 88469006
UMLS 69 C0043459

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 11b and peroxisome biogenesis disorders, zellweger syndrome spectrum, and has symptoms including seizures, macrocephaly and high palate. 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 Cholic Acids and Gastrointestinal Agents 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

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 : 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

Wikipedia : 71 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 11b 31.3 PEX1 PEX13
2 peroxisome biogenesis disorders, zellweger syndrome spectrum 12.3
3 peroxisome biogenesis disorder 1a 11.7
4 d-bifunctional protein deficiency 11.6
5 peroxisome biogenesis disorder 5a 11.5
6 peroxisome biogenesis disorder 1b 11.1
7 refsum disease 11.1
8 peroxisome biogenesis disorder 6a 11.0
9 peroxisome biogenesis disorder 13a 11.0
10 peroxisome biogenesis disorder 12a 11.0
11 peroxisome biogenesis disorder 11a 11.0
12 peroxisome biogenesis disorder 4a 11.0
13 peroxisome biogenesis disorder 10a 11.0
14 peroxisome biogenesis disorder 8a, 11.0
15 peroxisome biogenesis disorder 2a 11.0
16 peroxisome biogenesis disorder 3a 11.0
17 peroxisome biogenesis disorder 7a 11.0
18 alpha-methylacetoacetic aciduria 10.9
19 peroxisome biogenesis disorder 14b 10.9
20 peroxisomal acyl-coa oxidase deficiency 10.8
21 peroxisome biogenesis disorder 6b 10.7
22 peroxisome biogenesis disorder 4b 10.7
23 peroxisome biogenesis disorder 9b 10.7
24 peroxisome biogenesis disorder 5b 10.7
25 peroxisome biogenesis disorder 8b 10.7
26 peroxisome biogenesis disorder 2b 10.7
27 peroxisome biogenesis disorder 3b 10.7
28 peroxisome biogenesis disorder 7b 10.7
29 refsum disease, infantile form 10.7
30 adrenoleukodystrophy 10.2
31 peroxisome disorders 10.2
32 bardet-biedl syndrome 15 10.1 PEX1 PEX13
33 deafness progressive cataract autosomal dominant 10.1 PEX1 PEX6
34 neonatal adrenoleukodystrophy 10.1
35 langer mesomelic dwarfism 10.0 PEX2 PEX6
36 rhizomelic chondrodysplasia punctata 10.0
37 neuronitis 10.0
38 peroxisomal biogenesis disorders 10.0
39 doughnut lesions of skull, familial 10.0 GNPAT PEX5
40 growth hormone deficiency, isolated, type ii 10.0 PEX1 PEX5
41 myopathy 9.9
42 hepatitis 9.8
43 peroxisomal disease 9.8
44 neuronal migration disorders 9.8
45 bardet-biedl syndrome 5 9.8 AGPS GNPAT PEX5
46 holoprosencephaly 6 9.7 AGPS GNPAT PEX5
47 muscular dystrophy, congenital, 1b 9.7 AGPS GNPAT PEX5
48 hemosiderosis 9.7
49 neuroaxonal dystrophy 9.7
50 cerebritis 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 seizures 32 HP:0001250
2 macrocephaly 32 HP:0000256
3 high palate 32 HP:0000218
4 nystagmus 32 HP:0000639
5 failure to thrive 32 HP:0001508
6 respiratory insufficiency 32 HP:0002093
7 eeg abnormality 32 HP:0002353
8 cataract 32 HP:0000518
9 hepatomegaly 32 HP:0002240
10 skeletal dysplasia 32 HP:0002652
11 depressed nasal bridge 32 HP:0005280
12 corneal opacity 32 HP:0007957
13 wide nasal bridge 32 HP:0000431
14 malabsorption 32 HP:0002024
15 microcephaly 32 HP:0000252
16 sensorineural hearing impairment 32 HP:0000407
17 visual impairment 32 HP:0000505
18 optic atrophy 32 HP:0000648
19 short stature 32 HP:0004322
20 feeding difficulties in infancy 32 HP:0008872
21 cognitive impairment 32 HP:0100543
22 micrognathia 32 HP:0000347
23 epicanthus 32 HP:0000286
24 cryptorchidism 32 HP:0000028
25 epiphyseal stippling 32 HP:0010655
26 flat face 32 HP:0012368
27 thickened nuchal skin fold 32 HP:0000474
28 jaundice 32 HP:0000952
29 reduced tendon reflexes 32 HP:0001315
30 primary adrenal insufficiency 32 HP:0008207
31 hypospadias 32 HP:0000047
32 multicystic kidney dysplasia 32 HP:0000003
33 glaucoma 32 HP:0000501
34 upslanted palpebral fissure 32 HP:0000582
35 posterior embryotoxon 32 HP:0000627
36 ventricular septal defect 32 HP:0001629
37 flat occiput 32 HP:0005469
38 high forehead 32 HP:0000348
39 hepatic failure 32 HP:0001399
40 pyloric stenosis 32 HP:0002021
41 chorioretinal abnormality 32 HP:0000532
42 abnormality of coagulation 32 HP:0001928
43 external ear malformation 32 HP:0008572
44 hydronephrosis 32 HP:0000126
45 polymicrogyria 32 HP:0002126
46 wide anterior fontanel 32 HP:0000260
47 premature birth 32 HP:0001622
48 underdeveloped supraorbital ridges 32 HP:0009891
49 abnormality of the tongue 32 HP:0000157
50 profound global developmental delay 32 HP:0012736

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 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 PEX2 PEX26 PEX5 AGPS EHHADH GNPAT

Drugs & Therapeutics for Zellweger Syndrome

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cholic Acids Phase 3
2 Gastrointestinal Agents Phase 3
3 Liver Extracts Phase 3
4 Bile Acids and Salts Phase 3
5
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
rituximab Approved Phase 2 174722-31-7 10201696
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Thiotepa Approved Phase 2 52-24-4 5453
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13 Alkylating Agents Phase 2
14 N-monoacetylcystine Phase 2
15 Thioctic Acid Phase 2
16 Tocopherols Phase 2
17 Tocotrienols Phase 2
18 Vitamins Phase 2
19 Immunosuppressive Agents Phase 2
20 Antilymphocyte Serum Phase 2
21 Antimetabolites Phase 2
22 Antimetabolites, Antineoplastic Phase 2
23 Antineoplastic Agents, Alkylating Phase 2
24 Tocopherol Nutraceutical Phase 2
25 Tocotrienol Nutraceutical Phase 2
26 Alpha-lipoic Acid Nutraceutical Phase 2
27
chenodeoxycholic acid Approved 474-25-9 10133
28
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
29 Laxatives
30 Cathartics

Interventional clinical trials:


id Name Status NCT ID Phase
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
2 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
3 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442

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, Heart, Bone, Eye, Skin

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 261)
id Title Authors Year
1
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )
2016
2
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )
2016
3
Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )
2016
4
First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )
2015
5
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
6
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )
2015
7
Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )
2014
8
Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )
2014
9
Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )
2014
10
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )
2014
11
Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )
2014
12
Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )
2014
13
Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )
2014
14
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )
2013
15
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )
2013
16
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )
2013
17
Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )
2013
18
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )
2013
19
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
20
Zellweger syndrome: an older child with progressive foot deformity. ( 27625860 )
2013
21
Child neurology: Zellweger syndrome. ( 23671347 )
2013
22
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )
2013
23
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
24
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
25
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )
2012
26
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )
2012
27
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 21844578 )
2011
28
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )
2011
29
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )
2011
30
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )
2011
31
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )
2011
32
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )
2010
33
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
34
Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )
2010
35
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )
2009
36
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )
2009
37
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
38
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )
2009
39
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )
2009
40
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
41
Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )
2009
42
Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome. ( 18983586 )
2008
43
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 18285423 )
2008
44
Band heterotopia in Zellweger syndrome (cerebro-hepato-renal syndrome). ( 17272920 )
2007
45
Preimplantation genetic diagnosis for Zellweger syndrome. ( 17336976 )
2007
46
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. ( 17702006 )
2007
47
Early dietary treatments with Lorenzo's oil and docosahexaenoic acid for neurological development in a case with Zellweger syndrome. ( 17418516 )
2007
48
Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome. ( 17399899 )
2007
49
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. ( 16484405 )
2006
50
Anesthesia for the child with Zellweger syndrome: a case report. ( 16490113 )
2006

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 GRCh37 Chromosome 7, 92157748: 92157748

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 protein complex GO:0043234 9.71 PEX14 PEX19 PEX3 PEX5
3 peroxisomal matrix GO:0005782 9.56 ABCD3 AGPS EHHADH GNPAT
4 peroxisomal importomer complex GO:1990429 9.37 PEX12 PEX14
5 integral component of peroxisomal membrane GO:0005779 9.17 PEX10 PEX12 PEX13 PEX16 PEX2 PEX26
6 membrane GO:0016020 10.2 ABCD3 AGPS GNPAT PEX1 PEX10 PEX12
7 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 cellular lipid metabolic process GO:0044255 9.69 EHHADH GNPAT PEX5
4 fatty acid beta-oxidation GO:0006635 9.67 ABCD3 EHHADH PEX2 PEX5
5 protein targeting to peroxisome GO:0006625 9.65 PEX1 PEX12 PEX16 PEX19 PEX6
6 protein import into peroxisome membrane GO:0045046 9.55 PEX16 PEX19 PEX26 PEX3 PEX5
7 cerebral cortex cell migration GO:0021795 9.52 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 microtubule-based peroxisome localization GO:0060152 9.46 PEX1 PEX13
12 negative regulation of protein homotetramerization GO:1901094 9.43 PEX14 PEX5
13 protein import into peroxisome matrix, translocation GO:0016561 9.4 PEX14 PEX6
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....