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
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
2
Child neurology: Zellweger syndrome. (23671347)
2013
3
Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. (22378672)
2012
4
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. (16484405)
2006
5
First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome. (14974126)
2004
6
Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome. (12867281)
2003
7
A review of morphological techniques for detection of peroxisomal (and mitochondrial) proteins and their corresponding mRNAs during ontogenesis in mice: application to the PEX5-knockout mouse with Zellweger syndrome. (12740819)
2003
8
Zellweger syndrome. (12881630)
2003
9
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides. (14605504)
2003
10
A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. (11890679)
2002
11
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). (11583975)
2001
12
Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. (10051604)
1999
13
Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome. (10341407)
1999
14
Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome. (10340443)
1999
15
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
16
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. (9539740)
1998
17
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. (9452066)
1998
18
Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. (9199576)
1997
19
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans. (8954107)
1996
20
Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome. (8582432)
1995
21
Impaired degradation of prostaglandins and thromboxane in Zellweger syndrome. (7816519)
1994
22
Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?]. (7687405)
1993
23
A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome. (8147505)
1993
24
Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome. (1560037)
1992
25
Oral bile acid treatment and the patient with Zellweger syndrome. (1735522)
1992
26
Cortical cytoarchitectural and immunohistochemical studies on Zellweger syndrome. (1718183)
1991
27
Presence of peroxisomal membrane proteins in liver and fibroblasts from patients with the Zellweger syndrome and related disorders: evidence for the existence of peroxisomal ghosts. (2697558)
1989
28
Metabolism of saturated and polyunsaturated fatty acids by normal and Zellweger syndrome skin fibroblasts. (2504148)
1989
29
Zellweger syndrome, retinal involvement. (2628705)
1989
30
Very long fatty acids in amniotic fluid from a fetus affected with Zellweger syndrome. (2744027)
1989
31
Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy. (2512431)
1989
32
Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa. (3046788)
1988
33
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. (2468817)
1988
34
Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid. (3234448)
1988
35
Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts. (3662528)
1987
36
The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. (3319743)
1987
37
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. (3618126)
1987
38
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease. (3104670)
1986
39
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. (2879480)
1986
40
The significance of hyperpipecolatemia in Zellweger syndrome. (3087161)
1986
41
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. (2433077)
1986
42
Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome. (2943344)
1986
43
Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome). (3538019)
1986
44
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells. (3732317)
1986
45
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. (4080458)
1985
46
Pipecolic acid levels in serum and urine from neonates and normal infants: comparison with values reported in Zellweger syndrome. (3939538)
1985
47
Bile acid abnormalities and the diagnosis of cerebro-hepato-renal syndrome (Zellweger syndrome). (4024924)
1985
48
Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome. (6714253)
1984
49
Biochemical studies in the liver and muscle of patients with Zellweger syndrome. (6877906)
1983
50
The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings. (307490)
1978

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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Sources for Zellweger Syndrome

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26ICD10 via Orphanet
27ICD9CM
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