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, kidney and heart, 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, Kidney, Heart, Skin, Brain, Testes, Ovary, Cerebellum

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
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. (22894767)
2012
2
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. (19877282)
2010
3
Germinal matrix hemorrhage in Zellweger syndrome. (20952722)
2010
4
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. (19541270)
2009
5
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. (20033294)
2009
6
Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome. (12860034)
2003
7
Plasmalogen content and beta-adrenoceptor signalling in fibroblasts from patients with Zellweger syndrome. Effects of hexadecylglycerol. (12457713)
2002
8
Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome. (10700594)
2000
9
First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome. (10861722)
2000
10
Identification of a common PEX1 mutation in Zellweger syndrome. (10447258)
1999
11
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. (9700193)
1998
12
The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping. (9197465)
1997
13
Biochemical features of a patient with Zellweger-like syndrome with normal PTS-1 and PTS-2 peroxisomal protein import systems: a new peroxisomal disease. (9259985)
1997
14
Cholesterol biosynthesis in Zellweger syndrome: normal activity of mevalonate kinase, mevalonate-5'-pyrophosphate decarboxylase and IPP-isomerase in patients' fibroblasts but deficient mevalonate kinase activity in liver. (8739963)
1996
15
MRI findings of Zellweger syndrome. (8771174)
1995
16
Effect of glycerol trioleate oil milk formula administration on very long chain fatty acid levels and clinical course in a patient with Zellweger syndrome. (8529694)
1995
17
A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina. (7600573)
1995
18
Cerebrohepatorenal (Zellweger) syndrome: clinical, neuropathological, and biochemical findings. (8608580)
1995
19
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
20
The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family. (8098333)
1993
21
Histochemistry of peroxisomal enzyme activities: a tool in the diagnosis of Zellweger syndrome. (7907383)
1993
22
Prenatal diagnosis of Zellweger syndrome using DNA analysis. (8464835)
1993
23
Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome. (1679469)
1991
24
Adrenoleukodystrophy and Zellweger syndrome. (2183241)
1990
25
Study of peroxisomal proteins in patients with Zellweger syndrome. (2122106)
1990
26
Major peroxisomal membrane polypeptides are synthesized in cultured skin fibroblasts from patients with Zellweger syndrome. (2771521)
1989
27
Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger syndrome. (2755305)
1989
28
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. (3169748)
1988
29
Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. (3412850)
1988
30
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. (3119940)
1987
31
Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening. (3612402)
1987
32
Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome. (3569428)
1987
33
Deficient cholesterol side chain oxidation in patients without peroxisomes (Zellweger syndrome): evidence for the involvement of peroxisomes in bile acid synthesis in man. (3568406)
1987
34
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders. (2441904)
1987
35
Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome. (3123796)
1987
36
Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls. (3646870)
1987
37
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. (2868085)
1986
38
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. (3955868)
1986
39
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. (2426710)
1986
40
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid. (3816854)
1986
41
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2419755)
1986
42
Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants. (3815856)
1986
43
Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. (3760714)
1986
44
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome. (3977916)
1985
45
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. (2995971)
1985
46
Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses. (3997138)
1985
47
Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. (6207587)
1984
48
Serum very long chain fatty acid pattern in Zellweger syndrome. (6723067)
1984
49
Urinary excretion of dicarboxylic acids from patients with the Zellweger syndrome. Importance of peroxisomes in beta-oxidation of dicarboxylic acids. (6466694)
1984
50
The cerebro-hepato-renal syndrome of Zellweger: similarity to and differentiation from the DiGeorge syndrome. (7292577)
1981

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
27ICD9CM
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