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 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 peroxisome biogenesis disorder 11a, 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 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 multicystic kidney dysplasia and cryptorchidism

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 66)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 33.7 PEX1 PEX10
2 peroxisome biogenesis disorder 11a 32.4 PEX1 PEX13
3 d-bifunctional protein deficiency 31.9 EHHADH PEX5
4 peroxisome biogenesis disorder 11b 31.9 PEX1 PEX13
5 zellweger spectrum disorder 30.9 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
6 refsum disease, classic 30.8 GNPAT PEX14 PEX16 PEX5
7 chondrodysplasia punctata syndrome 30.1 GNPAT PEX5
8 peroxisomal disease 28.7 AGPS GNPAT PEX1 PEX2 PEX5
9 rhizomelic chondrodysplasia punctata 28.7 AGPS GNPAT PEX26 PEX5
10 peroxisomal biogenesis disorders 27.9 PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
11 adrenoleukodystrophy 27.3 ABCD3 EHHADH PEX1 PEX10 PEX19 PEX26
12 neonatal adrenoleukodystrophy 26.1 EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
13 peroxisome biogenesis disorder 1b 25.8 ABCD3 GNPAT PEX1 PEX10 PEX12 PEX13
14 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.3
15 peroxisome biogenesis disorder 5a 11.6
16 alpha-methylacetoacetic aciduria 11.3
17 refsum disease, infantile form 11.2
18 peroxisome biogenesis disorder 2a 11.1
19 peroxisome biogenesis disorder 3a 11.1
20 peroxisome biogenesis disorder 4a 11.1
21 peroxisome biogenesis disorder 6a 11.1
22 peroxisome biogenesis disorder 7a 11.1
23 peroxisome biogenesis disorder 8a 11.1
24 peroxisome biogenesis disorder 10a 11.1
25 peroxisome biogenesis disorder 12a 11.1
26 peroxisome biogenesis disorder 13a 11.1
27 peroxisome biogenesis disorder 14b 10.9
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 deafness enamel hypoplasia nail defects 10.4 PEX1 PEX6
38 mulibrey nanism 10.3 PEX1 PEX5
39 peroxisome disorders 10.2
40 neuronitis 10.1
41 mitochondrial myopathy 10.0
42 myopathy 10.0
43 aging 9.9
44 hepatitis 9.9
45 neuronal migration disorders 9.9
46 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7
47 hydrops fetalis, nonimmune 9.7
48 band heterotopia 9.7
49 hydrops fetalis, nonimmune, and/or atrial septal defect 9.7
50 keratomalacia 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)
# 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 abnormal chorioretinal morphology 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 PEX5 ABCD3 AGPS EHHADH GNPAT PEX1
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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cholic Acids Phase 3,Not Applicable
2 Gastrointestinal Agents Phase 3,Not Applicable
3 Liver Extracts Phase 3
4 Bile Acids and Salts Phase 3,Not Applicable
5
rituximab Approved Phase 2 174722-31-7 10201696
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
10
Busulfan Approved, Investigational Phase 2 55-98-1 2478
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
14 Alkylating Agents Phase 2
15 Thioctic Acid Phase 2
16 Tocopherols Phase 2
17 Tocotrienols Phase 2
18 N-monoacetylcystine Phase 2
19 Vitamins Phase 2
20 Immunosuppressive Agents Phase 2
21 Antilymphocyte Serum Phase 2
22 Antimetabolites Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
26 Alpha-lipoic Acid Nutraceutical Phase 2
27
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
28
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
29 Cathartics Not Applicable
30 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 Recruiting 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, Eye, Bone, Heart, Skin

Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 270)
# 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
Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease. ( 29619570 )
2018
5
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
6
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. ( 28432012 )
2017
7
Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome. ( 28330580 )
2017
8
Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. ( 29047053 )
2017
9
Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla. ( 28452594 )
2017
10
Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )
2016
11
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )
2016
12
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )
2016
13
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )
2015
14
First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )
2015
15
Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )
2015
16
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )
2014
17
Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )
2014
18
Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )
2014
19
Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )
2014
20
Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )
2014
21
Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )
2014
22
Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )
2014
23
Child neurology: Zellweger syndrome. ( 23671347 )
2013
24
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )
2013
25
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )
2013
26
Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )
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: an older child with progressive foot deformity. ( 27625860 )
2013
29
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )
2013
30
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )
2013
31
Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )
2013
32
Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )
2013
33
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )
2012
34
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )
2012
35
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
36
PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )
2011
37
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )
2011
38
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )
2011
39
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 21844578 )
2011
40
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )
2011
41
Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )
2010
42
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
43
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )
2010
44
Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )
2009
45
Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )
2009
46
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )
2009
47
Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )
2009
48
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )
2009
49
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )
2009
50
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )
2009

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

6
(show top 50) (show all 1255)
# 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.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
3 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
4 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh38 Chromosome 7, 92504812: 92504812
5 PEX1 NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del) deletion Pathogenic
6 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
7 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
8 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
9 PEX6 NM_000287.3(PEX6): c.2426C> T (p.Ala809Val) single nucleotide variant Benign/Likely benign rs35830695 GRCh37 Chromosome 6, 42933464: 42933464
10 PEX6 NM_000287.3(PEX6): c.2426C> T (p.Ala809Val) single nucleotide variant Benign/Likely benign rs35830695 GRCh38 Chromosome 6, 42965726: 42965726
11 PEX1 NM_000466.2(PEX1): c.627G> A (p.Met209Ile) single nucleotide variant Uncertain significance rs200752969 GRCh37 Chromosome 7, 92147202: 92147202
12 PEX1 NM_000466.2(PEX1): c.627G> A (p.Met209Ile) single nucleotide variant Uncertain significance rs200752969 GRCh38 Chromosome 7, 92517888: 92517888
13 PEX14 NM_004565.2(PEX14): c.1014C> T (p.Asp338=) single nucleotide variant Benign/Likely benign rs2128414 GRCh37 Chromosome 1, 10689924: 10689924
14 PEX14 NM_004565.2(PEX14): c.1014C> T (p.Asp338=) single nucleotide variant Benign/Likely benign rs2128414 GRCh38 Chromosome 1, 10629867: 10629867
15 PEX14 NM_004565.2(PEX14): c.1032G> T (p.Gly344=) single nucleotide variant Benign/Likely benign rs11539794 GRCh37 Chromosome 1, 10689942: 10689942
16 PEX14 NM_004565.2(PEX14): c.1032G> T (p.Gly344=) single nucleotide variant Benign/Likely benign rs11539794 GRCh38 Chromosome 1, 10629885: 10629885
17 PEX26 NM_017929.5(PEX26): c.*10C> T single nucleotide variant Benign/Likely benign rs117472525 GRCh37 Chromosome 22, 18570851: 18570851
18 PEX26 NM_017929.5(PEX26): c.*10C> T single nucleotide variant Benign/Likely benign rs117472525 GRCh38 Chromosome 22, 18088085: 18088085
19 PEX1 NM_000466.2(PEX1): c.2926+2T> C single nucleotide variant Likely pathogenic rs267608180 GRCh38 Chromosome 7, 92494485: 92494485
20 PEX1 NM_000466.2(PEX1): c.2926+2T> C single nucleotide variant Likely pathogenic rs267608180 GRCh37 Chromosome 7, 92123799: 92123799
21 PEX1 NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs) deletion Likely pathogenic rs769836601 GRCh37 Chromosome 7, 92118678: 92118681
22 PEX1 NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs) deletion Likely pathogenic rs769836601 GRCh38 Chromosome 7, 92489364: 92489367
23 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh37 Chromosome 7, 92123800: 92123800
24 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh38 Chromosome 7, 92494486: 92494486
25 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
26 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
27 PEX1 NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs) deletion Likely pathogenic rs61750423 GRCh37 Chromosome 7, 92126080: 92126080
28 PEX1 NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs) deletion Likely pathogenic rs61750423 GRCh38 Chromosome 7, 92496766: 92496766
29 PEX1 NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs) deletion Likely pathogenic rs61750414 GRCh37 Chromosome 7, 92131228: 92131229
30 PEX1 NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs) deletion Likely pathogenic rs61750414 GRCh38 Chromosome 7, 92501914: 92501915
31 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh37 Chromosome 7, 92131237: 92131237
32 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh38 Chromosome 7, 92501923: 92501923
33 PEX1 NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs) deletion Likely pathogenic rs786204606 GRCh38 Chromosome 7, 92507080: 92507081
34 PEX1 NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs) deletion Likely pathogenic rs786204606 GRCh37 Chromosome 7, 92136394: 92136395
35 PEX1 NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs) deletion Likely pathogenic rs786204743 GRCh37 Chromosome 7, 92140343: 92140344
36 PEX1 NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs) deletion Likely pathogenic rs786204743 GRCh38 Chromosome 7, 92511029: 92511030
37 PEX1 NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs) deletion Likely pathogenic rs786204638 GRCh37 Chromosome 7, 92146917: 92146918
38 PEX1 NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs) deletion Likely pathogenic rs786204638 GRCh38 Chromosome 7, 92517603: 92517604
39 PEX1 NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs) deletion Likely pathogenic rs749067142 GRCh37 Chromosome 7, 92147046: 92147047
40 PEX1 NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs) deletion Likely pathogenic rs749067142 GRCh38 Chromosome 7, 92517732: 92517733
41 PEX1 NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs) deletion Likely pathogenic rs786204544 GRCh37 Chromosome 7, 92147182: 92147186
42 PEX1 NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs) deletion Likely pathogenic rs786204544 GRCh38 Chromosome 7, 92517868: 92517872
43 PEX1 NM_000466.2(PEX1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204704 GRCh37 Chromosome 7, 92157747: 92157747
44 PEX1 NM_000466.2(PEX1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204704 GRCh38 Chromosome 7, 92528433: 92528433
45 PEX6 NM_000287.3(PEX6): c.870G> C (p.Glu290Asp) single nucleotide variant Uncertain significance rs150358700 GRCh37 Chromosome 6, 42946019: 42946019
46 PEX6 NM_000287.3(PEX6): c.870G> C (p.Glu290Asp) single nucleotide variant Uncertain significance rs150358700 GRCh38 Chromosome 6, 42978281: 42978281
47 PEX13 NM_002618.3(PEX13): c.-6G> C single nucleotide variant Conflicting interpretations of pathogenicity rs147461642 GRCh37 Chromosome 2, 61244889: 61244889
48 PEX13 NM_002618.3(PEX13): c.-6G> C single nucleotide variant Conflicting interpretations of pathogenicity rs147461642 GRCh38 Chromosome 2, 61017754: 61017754
49 PEX6 NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu) single nucleotide variant Uncertain significance rs142899308 GRCh37 Chromosome 6, 42934097: 42934097
50 PEX6 NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu) single nucleotide variant Uncertain significance rs142899308 GRCh38 Chromosome 6, 42966359: 42966359

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 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 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
13 negative regulation of protein homotetramerization GO:1901094 9.4 PEX14 PEX5
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-containing complex binding GO:0044877 9.5 PEX1 PEX26 PEX6
3 protein N-terminus binding GO:0047485 9.33 PEX14 PEX19 PEX5
4 ATPase activity, coupled GO:0042623 9.26 PEX1 PEX6
5 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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