ZS
MCID: ZLL001
MIFTS: 57

Zellweger Syndrome (ZS) malady

Summaries for Zellweger Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Zellweger syndrome is the most severe form of a spectrum of conditions called zellweger spectrum disorders. 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: 8/22/2012

MalaCards: Zellweger Syndrome, also known as peroxisome biogenesis disorders, is related to adrenoleukodystrophy and zellweger spectrum. An important gene associated with Zellweger Syndrome is PEX6 (peroxisomal biogenesis factor 6), and among its related pathways are Synthesis of bile acids and bile salts and PPAR signaling pathway. The compounds pristanic acid and 3-oxoacyl-coa have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Disease Ontology:8 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.

NINDS:43 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD).

Wikipedia:63 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... more...

Description from OMIM:46 214100

Aliases & Classifications for Zellweger Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 39NCIt
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Aliases & Descriptions:

zellweger syndrome 8 42 20 22 43 10 44 60
peroxisome biogenesis disorders 42 20 22 44 60
cerebrohepatorenal syndrome 8 42
zellweger leukodystrophy 42 60
peroxisome biogenesis disorder 8
congenital iron overload 8
chromate resistance 60
chr 42
zws 42
pbd 42
zs 42


External Ids:

Disease Ontology8 DOID:905
OMIM46 214100
SNOMED-CT56 88469006
MeSH34 D015211
NCIt39 C85239

Related Diseases for Zellweger Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Zellweger Syndrome family:

Zellweger Spectrum

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1adrenoleukodystrophy30.8PEX10, PEX6, PEX14, PEX26, PEX5, ABCD3
2zellweger spectrum30.6PEX12, PEX1, PEX13, PEX3, PEX5, PEX10
3rhizomelic chondrodysplasia punctata30.5AGPS, PHYH
4refsum disease30.4PHYH
5d-bifunctional protein deficiency30.4EHHADH, SCP2
6infantile refsum disease30.3PEX1, PEX6
7peroxisome biogenesis disorder 1a10.4
8peroxisomal disease10.4
9peroxisome biogenesis disorders, zellweger syndrome spectrum10.4
10peroxisome biogenesis disorder 1b10.3
11rhizomelic chondrodysplasia punctata type 110.3
12peroxisome biogenesis disorder 9b10.3
13neuronitis10.3
14usher syndrome10.2
15rhizomelic chondrodysplasia punctata, type 310.2
16rhizomelic chondrodysplasia punctata type 210.2
17hyperpipecolatemia10.2
18complement deficiency10.1
19hepatitis10.1
20myopathy10.1
21neurologic diseases10.1
22hawkinsinuria10.1
23peroxisome biogenesis disorder 6a10.1
24peroxisome biogenesis disorder 13a10.1
25peroxisome biogenesis disorder 14b10.1
26peroxisome biogenesis disorder 12a10.1
27peroxisome biogenesis disorder 11a10.1
28peroxisome biogenesis disorder 4a10.1
29peroxisome biogenesis disorder 10a10.1
30peroxisome biogenesis disorder 5a10.1
31peroxisome biogenesis disorder 8a,10.1
32peroxisome biogenesis disorder 2a10.1
33peroxisome biogenesis disorder 3a10.1
34peroxisome biogenesis disorder 7a10.1
35astrocytoma10.1
36tuberous sclerosis10.1
37asphyxiating thoracic dystrophy10.1
38meckel syndrome10.1
39peroxisomal acyl-coa oxidase deficiency10.1
40multiple sclerosis10.1
41acatalasia10.0
42beta-ketothiolase deficiency10.0
43cerebritis10.0
44hemosiderosis10.0
45neuroaxonal dystrophy10.0
46hepatitis a10.0
47compartment syndrome10.0
48corneal ulcer10.0
49liver disease10.0
50retinitis10.0

Graphical network of the top 20 diseases related to Zellweger Syndrome:



Diseases related to zellweger syndrome

Clinical Features for Zellweger Syndrome

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46OMIM
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Clinical features from OMIM:

214100

Drugs & Therapeutics for Zellweger Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Zellweger Syndrome

Drug clinical trials:

Search ClinicalTrials for Zellweger Syndrome

Search NIH Clinical Center for Zellweger Syndrome

Search CenterWatch for Zellweger Syndrome

Genetic Tests for Zellweger Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Zellweger Syndrome:

id Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders (pbd)20 PEX6
2 Peroxisome Biogenesis Disorders Multi-Gene Panels20
3 Zellweger Syndrome20 22
4 Peroxisome Biogenesis Disorders22

Anatomical Context for Zellweger Syndrome

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32MalaCards
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MalaCards organs/tissues related to Zellweger Syndrome:

32
Liver, Heart, Kidney, Skin, Brain, Testes, Cerebellum, Ovary

Animal Models for Zellweger Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Zellweger Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.9EHHADH, PHYH, SCP2
2MP:00053869.8PHYH, EHHADH, ABCD2, PEX13, PEX3, PEX2

Publications for Zellweger Syndrome

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50PubMed
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Articles related to Zellweger Syndrome:

(show top 50)    (show all 256)
idTitleAuthorsYear
1
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. (24030027)
2013
2
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. (23247051)
2013
3
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. (23299724)
2013
4
Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. (21826223)
2011
5
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (19449432)
2009
6
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (19105186)
2009
7
Identification of a novel PEX14 mutation in Zellweger syndrome. (18285423)
2008
8
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. (17702006)
2007
9
Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome. (17399899)
2007
10
Preimplantation genetic diagnosis for Zellweger syndrome. (17336976)
2007
11
Recognition of Zellweger syndrome in infancy. (15685158)
2005
12
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. (12897163)
2003
13
Oral bile Acid treatment in two Japanese patients with Zellweger syndrome. (12187304)
2002
14
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. (11161822)
2001
15
First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. (11339194)
2001
16
Zellweger syndrome: report of one case. (11270189)
2001
17
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. (10968777)
2000
18
Localization of nervonic acid beta-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy. (9799802)
1998
19
Zellweger syndrome and associated phenotypes. (8933342)
1996
20
Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization. (8020947)
1994
21
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome. (7986825)
1994
22
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (20301621)
1993
23
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. (8511016)
1993
24
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. (1430210)
1992
25
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. (1546315)
1992
26
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. (1946426)
1991
27
Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: implications for Zellweger syndrome. (1770789)
1991
28
Zellweger syndrome: a histochemical diagnosis of two cases. (1714076)
1991
29
The Zellweger syndrome: deficient conversion of docosahexaenoic acid (22:6(n-3)) to eicosapentaenoic acid (20:5(n-3)) and normal delta 4-desaturase activity in cultured skin fibroblasts. (2140517)
1990
30
Analysis of very long-chain fatty acids and plasmalogen in the erythrocyte membrane: a simple method for the detection of peroxisomal disorders and discrimination between adrenoleukodystrophy and Zellweger syndrome. (2234315)
1990
31
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes. (2183242)
1990
32
Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome. (2703857)
1989
33
Kinetics of the assembly of peroxisomes after fusion of complementary cell lines from patients with the cerebro-hepato-renal (Zellweger) syndrome and related disorders. (3377768)
1988
34
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
35
Purification of nonspecific lipid transfer protein (sterol carrier protein 2) from human liver and its deficiency in livers from patients with cerebro-hepato-renal (Zellweger) syndrome. (3555624)
1987
36
Catalase in cultured skin fibroblasts from patients with the cerebro-hepato-renal (Zellweger) syndrome: normal maturation in peroxisome-deficient cells. (3828388)
1987
37
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome. (2944672)
1986
38
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. (3706414)
1986
39
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. (3945517)
1986
40
What is Zellweger syndrome? (3734986)
1986
41
Biosynthesis of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome. (3099077)
1986
42
A milder variant of Zellweger syndrome. (4076250)
1985
43
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis. (3930873)
1985
44
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. (2408988)
1985
45
Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome. (4031664)
1985
46
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. (6566965)
1984
47
Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome. (6616347)
1983
48
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. (7176294)
1982
49
Hyperpipecolic acidemia. Occurrence in an infant with clinical findings of the cerebrohepatorenal (Zellweger) syndrome. (6812554)
1982
50
A metabolic disorder similar to Zellweger syndrome with hepatic acatalasia and absence of peroxisomes, altered content and redox state of cytochromes, and infantile cirrhosis with hemosiderosis. (844460)
1977

Genetic Variations for Zellweger Syndrome

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Expression for genes affiliated with Zellweger Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Zellweger Syndrome

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Pathways for genes affiliated with Zellweger Syndrome

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Zellweger Syndrome

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44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Zellweger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pristanic acid44 28 2412.3SCP2, EHHADH, ACOX2
23-oxoacyl-coa4410.3SCP2, EHHADH
3sterol4410.1ACOX2, ABCD2, EHHADH, SCP2
4acyl-coa4410.1PEX6, PEX5, ACOX2, ABCD3, EHHADH, SCP2
5lipid4410.0PEX5, PEX2, PEX1, ABCD3, PHYH, SCP2
6phytanic acid4410.0SCP2, PHYH
7fatty acid449.9ABCD3, EHHADH, AGPS, PHYH, SCP2

GO Terms for genes affiliated with Zellweger Syndrome

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16Gene Ontology
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Cellular components related to Zellweger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to peroxisomal membraneGO:00577910.1PEX12, PEX13, PEX3, PEX2, PEX10, PEX16
2peroxisomal matrixGO:00578210.0SCP2, PHYH, AGPS, ABCD3, ACOX2, PEX5
3protein complexGO:04323410.0SCP2, PEX3, PEX5, PEX19, PEX14
4intracellular membrane-bounded organelleGO:0432319.9SCP2, AGPS, EHHADH, ABCD3, ABCD2, PEX1
5mitochondrionGO:0057399.9SCP2, PHYH, AGPS, EHHADH, ABCD2, IDI1
6peroxisomal membraneGO:0057789.5PEX1, PEX13, PEX3, PEX2, PEX5, PEX10
7cytosolGO:0058299.4IDI1, EHHADH, ABCD3, ABCD2, PEX1, PEX3
8peroxisomeGO:0057779.0PEX3, PEX5, PEX10, PEX6, PEX16, PEX19

Biological processes related to Zellweger Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome matrix, translocationGO:01656110.5PEX14, PEX6, PEX5
2negative regulation of protein homotetramerizationGO:190109410.5PEX5, PEX14
3peroxisome membrane biogenesisGO:01655710.5PEX19, PEX16, PEX3
4microtubule-based peroxisome localizationGO:06015210.5PEX1, PEX13
5very long-chain fatty acid metabolic processGO:00003810.5ABCD2, PEX2, PEX5
6protein import into peroxisome matrix, dockingGO:01656010.5PEX5, PEX13
7bile acid biosynthetic processGO:00669910.4PEX2, ACOX2, SCP2
8protein import into peroxisome membraneGO:04504610.4PEX3, PEX5, PEX16, PEX19, PEX26
9very long-chain fatty acid catabolic processGO:04276010.4ABCD3, ABCD2
10protein targeting to peroxisomeGO:00662510.3PEX19, PEX16, PEX6, PEX5, PEX1, PEX12
11fatty acid beta-oxidationGO:00663510.3EHHADH, ABCD3, ABCD2, PEX2, PEX5
12fatty acid alpha-oxidationGO:00156110.3PEX13, PHYH
13neuron migrationGO:00176410.2PEX5, PEX2, PEX13
14cerebral cortex cell migrationGO:02179510.2PEX5, PEX13
15cellular lipid metabolic processGO:04425510.2ACOX2, AGPS, PHYH, SCP2
16protein import into peroxisome matrixGO:01655810.2PEX10, PEX5, PEX2, PEX1, PEX12, PEX16
17peroxisome organizationGO:00703110.0PEX14, PEX19, PEX16, PEX6, PEX10, PEX2
18fatty acid beta-oxidation using acyl-CoA oxidaseGO:03354010.0SCP2, ACOX2

Molecular functions related to Zellweger Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:04262310.5PEX1, PEX6
2ATPase bindingGO:05111710.3PEX26, PEX19
3protein N-terminus bindingGO:04748510.3PEX5, PEX19, PEX14
4protein complex bindingGO:03240310.2PEX1, PEX6, PEX26
5protein C-terminus bindingGO:00802210.2PEX26, PEX12, PEX1, PEX5, PEX10, PEX6
6receptor bindingGO:00510210.1PEX14, ACOX2, EHHADH, SCP2
7ATPase activity, coupled to transmembrane movement of substancesGO:04262610.0ABCD2, ABCD3
8protein bindingGO:0055159.4PEX13, PEX1, PEX12, ABCD2, ABCD3, PHYH

Products for genes affiliated with Zellweger Syndrome

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26ICD10 via Orphanet
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