MCID: ZLL001
MIFTS: 56

Zellweger Syndrome

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Zellweger Syndrome

MalaCards integrated aliases for Zellweger Syndrome:

Name: Zellweger Syndrome 12 72 49 50 36 28 51 41 14 69
Cerebrohepatorenal Syndrome 12 49
Zellweger Leukodystrophy 49 69
Peroxisome Biogenesis Disorder 12
Congenital Iron Overload 12
Chr 49
Zws 49
Zs 49

Characteristics:

HPO:

31
zellweger syndrome:
Mortality/Aging death in infancy


Classifications:



Summaries for Zellweger Syndrome

NINDS : 50 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 zellweger spectrum disorder, 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 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 : 49 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

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 66)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 33.3 PEX1 PEX10
2 zellweger spectrum disorder 32.0 PEX1 PEX12 PEX16 PEX3 PEX6
3 d-bifunctional protein deficiency 31.9 EHHADH PEX5
4 refsum disease, classic 31.0 GNPAT PEX14 PEX16 PEX5
5 chondrodysplasia punctata syndrome 29.8 GNPAT PEX5
6 rhizomelic chondrodysplasia punctata 28.8 AGPS GNPAT PEX26 PEX5
7 peroxisomal disease 28.5 AGPS GNPAT PEX1 PEX2 PEX5
8 peroxisomal biogenesis disorders 28.5 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
9 peroxisome biogenesis disorder 1b 28.2 ABCD3 GNPAT PEX1 PEX10 PEX12 PEX13
10 adrenoleukodystrophy 28.2 ABCD3 EHHADH PEX1 PEX10 PEX19 PEX26
11 neonatal adrenoleukodystrophy 27.9 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
12 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.3
13 peroxisome biogenesis disorder 5a 11.6
14 chromate resistance 11.4
15 alpha-methylacetoacetic aciduria 11.3
16 refsum disease, infantile form 11.2
17 peroxisome biogenesis disorder 2a 11.1
18 peroxisome biogenesis disorder 3a 11.1
19 peroxisome biogenesis disorder 4a 11.1
20 peroxisome biogenesis disorder 6a 11.1
21 peroxisome biogenesis disorder 7a 11.1
22 peroxisome biogenesis disorder 8a 11.1
23 peroxisome biogenesis disorder 10a 11.1
24 peroxisome biogenesis disorder 11a 11.1
25 peroxisome biogenesis disorder 12a 11.1
26 peroxisome biogenesis disorder 13a 11.1
27 peroxisome biogenesis disorder 14b 11.0
28 mental retardation, skeletal dysplasia, and abducens palsy 10.9
29 peroxisome biogenesis disorder 2b 10.8
30 peroxisome biogenesis disorder 3b 10.8
31 peroxisome biogenesis disorder 4b 10.8
32 peroxisome biogenesis disorder 5b 10.8
33 peroxisome biogenesis disorder 6b 10.8
34 peroxisome biogenesis disorder 7b 10.8
35 peroxisome biogenesis disorder 8b 10.8
36 peroxisome biogenesis disorder 9b 10.8
37 peroxisome biogenesis disorder 11b 10.8
38 peroxisome disorders 10.2
39 deafness enamel hypoplasia nail defects 10.1 PEX1 PEX6
40 mulibrey nanism 10.1 PEX1 PEX5
41 neuronitis 10.1
42 mitochondrial myopathy 10.0
43 myopathy 10.0
44 aging 9.9
45 hepatitis 9.9
46 streptococcal group a invasive disease 9.9
47 neuronal migration disorders 9.9
48 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7
49 hydrops fetalis, nonimmune 9.7
50 band heterotopia 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:

31 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 31 frequent (33%) HP:0000003
2 cryptorchidism 31 frequent (33%) HP:0000028
3 hypospadias 31 frequent (33%) HP:0000047
4 hydronephrosis 31 frequent (33%) HP:0000126
5 abnormality of the tongue 31 occasional (7.5%) HP:0000157
6 high palate 31 frequent (33%) HP:0000218
7 microcephaly 31 frequent (33%) HP:0000252
8 macrocephaly 31 frequent (33%) HP:0000256
9 wide anterior fontanel 31 hallmark (90%) HP:0000260
10 epicanthus 31 hallmark (90%) HP:0000286
11 micrognathia 31 frequent (33%) HP:0000347
12 high forehead 31 hallmark (90%) HP:0000348
13 sensorineural hearing impairment 31 frequent (33%) HP:0000407
14 wide nasal bridge 31 hallmark (90%) HP:0000431
15 thickened nuchal skin fold 31 occasional (7.5%) HP:0000474
16 glaucoma 31 occasional (7.5%) HP:0000501
17 visual impairment 31 frequent (33%) HP:0000505
18 cataract 31 frequent (33%) HP:0000518
19 abnormal chorioretinal morphology 31 frequent (33%) HP:0000532
20 upslanted palpebral fissure 31 hallmark (90%) HP:0000582
21 posterior embryotoxon 31 frequent (33%) HP:0000627
22 nystagmus 31 frequent (33%) HP:0000639
23 optic atrophy 31 frequent (33%) HP:0000648
24 jaundice 31 hallmark (90%) HP:0000952
25 brushfield spots 31 occasional (7.5%) HP:0001088
26 seizures 31 frequent (33%) HP:0001250
27 reduced tendon reflexes 31 hallmark (90%) HP:0001315
28 hepatic failure 31 hallmark (90%) HP:0001399
29 failure to thrive 31 hallmark (90%) HP:0001508
30 premature birth 31 frequent (33%) HP:0001622
31 ventricular septal defect 31 occasional (7.5%) HP:0001629
32 abnormality of coagulation 31 occasional (7.5%) HP:0001928
33 pyloric stenosis 31 frequent (33%) HP:0002021
34 malabsorption 31 frequent (33%) HP:0002024
35 respiratory insufficiency 31 hallmark (90%) HP:0002093
36 polymicrogyria 31 frequent (33%) HP:0002126
37 hepatomegaly 31 hallmark (90%) HP:0002240
38 eeg abnormality 31 hallmark (90%) HP:0002353
39 skeletal dysplasia 31 hallmark (90%) HP:0002652
40 short stature 31 hallmark (90%) HP:0004322
41 depressed nasal bridge 31 hallmark (90%) HP:0005280
42 flat occiput 31 frequent (33%) HP:0005469
43 severe muscular hypotonia 31 hallmark (90%) HP:0006829
44 corneal opacity 31 hallmark (90%) HP:0007957
45 very long chain fatty acid accumulation 31 hallmark (90%) HP:0008167
46 primary adrenal insufficiency 31 occasional (7.5%) HP:0008207
47 external ear malformation 31 hallmark (90%) HP:0008572
48 clitoral hypertrophy 31 frequent (33%) HP:0008665
49 feeding difficulties in infancy 31 hallmark (90%) HP:0008872
50 underdeveloped supraorbital ridges 31 frequent (33%) HP:0009891

UMLS symptoms related to Zellweger Syndrome:


seizures

MGI Mouse Phenotypes related to Zellweger Syndrome:

43
# 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 PEX26 PEX5 AGPS EHHADH GNPAT PEX1

Drugs & Therapeutics for Zellweger Syndrome

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

(show all 29)
# 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, Investigational Phase 2 52-24-4 5453
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12 Tocopherol Approved, Investigational, Nutraceutical Phase 2
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
14 Alkylating Agents Phase 2
15 N-monoacetylcystine Phase 2
16 Thioctic Acid Phase 2
17 Tocopherols Phase 2
18 Tocotrienols Phase 2
19 Vitamins Phase 2
20 Antilymphocyte Serum Phase 2
21 Immunosuppressive Agents Phase 2
22 Antimetabolites Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
25 Alpha-lipoic Acid Nutraceutical Phase 2
26
chenodeoxycholic acid Approved 474-25-9 10133
27
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
28 Cathartics
29 Laxatives

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 Recruiting NCT03440905
4 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:

# Genetic test Affiliating Genes
1 Zellweger Syndrome 28 PEX1

Anatomical Context for Zellweger Syndrome

MalaCards organs/tissues related to Zellweger Syndrome:

38
Liver, Kidney, Brain, Eye, Bone, Heart, Skin

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 268)
# Title Authors Year
1
Stippled Chondral Calcifications of the Patella in Zellweger Syndrome. ( 29246349 )
2018
2
Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report. ( 29414506 )
2018
3
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. ( 29047053 )
2017
4
Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome. ( 28330580 )
2017
5
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla. ( 28452594 )
2017
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
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )
2016
9
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )
2016
10
Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )
2016
11
First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )
2015
12
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
13
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )
2015
14
Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )
2014
15
Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )
2014
16
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )
2014
17
Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )
2014
18
Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )
2014
19
Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )
2014
20
Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )
2014
21
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )
2013
22
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )
2013
23
Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )
2013
24
Zellweger syndrome: an older child with progressive foot deformity. ( 27625860 )
2013
25
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )
2013
26
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
27
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
28
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )
2013
29
Child neurology: Zellweger syndrome. ( 23671347 )
2013
30
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )
2013
31
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )
2012
32
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )
2012
33
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
34
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )
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
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )
2011
37
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )
2011
38
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )
2011
39
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )
2010
40
Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )
2010
41
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
42
Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )
2009
43
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )
2009
44
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )
2009
45
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )
2009
46
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
47
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009
48
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )
2009
49
Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome. ( 18983586 )
2008
50
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 18285423 )
2008

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh37 Chromosome 7, 92123800: 92123800
2 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
3 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh37 Chromosome 7, 92131237: 92131237
4 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
5 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
6 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
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 PEX1, 1-BP DEL, 2916A deletion Pathogenic
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
# 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:

36
# 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 9.56 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)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 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 9.54 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 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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