ZS
MCID: ZLL001
MIFTS: 52

Zellweger Syndrome (ZS) malady

Genetic diseases, Rare diseases categories
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Summaries for Zellweger Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 peroxisome disorders and adrenoleukodystrophy. An important gene associated with Zellweger Syndrome is PEX6 (peroxisomal biogenesis factor 6), and among its related pathways is Peroxisome. The compound acyl-coa have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and heart.

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

Wikipedia:65 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... more...

Description from OMIM:47 214100

Aliases & Classifications for Zellweger Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 47OMIM, 40NCIt, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

zellweger syndrome 8 43 20 22 44 10 45 62
peroxisome biogenesis disorders 43 20 22 45 62
cerebrohepatorenal syndrome 8 43
zellweger leukodystrophy 43 62
peroxisome biogenesis disorder 8
congenital iron overload 8
chromate resistance 62
chr 43
pbd 43
zws 43
zs 43


External Ids:

Disease Ontology8 DOID:905
MeSH35 D015211
SNOMED-CT58 88469006
OMIM47 214100
NCIt40 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 74)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome disorders30.9PEX2, PEX1
2adrenoleukodystrophy30.6PEX1, PEX12, PEX10, PEX6, PEX2, ABCD3
3neonatal adrenoleukodystrophy30.5PEX1, PEX10, PEX6
4infantile refsum disease30.4PEX6, PEX1
5zellweger spectrum30.3PEX16, PEX1, PEX12, PEX10, PEX6
6peroxisome biogenesis disorder 1a10.5
7d-bifunctional protein deficiency10.4
8rhizomelic chondrodysplasia punctata10.4
9chondrodysplasia10.4
10peroxisome biogenesis disorder 1b10.4
11rhizomelic chondrodysplasia punctata type 110.4
12peroxisome biogenesis disorder 9b10.4
13neuronitis10.3
14refsum disease10.3
15peroxisome biogenesis disorders, zellweger syndrome spectrum10.3
16usher syndrome10.2
17rhizomelic chondrodysplasia punctata type 210.2
18rhizomelic chondrodysplasia punctata, type 310.2
19hepatitis10.2
20myopathy10.2
21hawkinsinuria10.2
22neuronal migration disorders10.2
23peroxisome biogenesis disorder 6a10.2
24peroxisome biogenesis disorder 13a10.2
25peroxisome biogenesis disorder 14b10.2
26peroxisome biogenesis disorder 12a10.2
27peroxisome biogenesis disorder 11a10.2
28peroxisome biogenesis disorder 4a10.2
29peroxisome biogenesis disorder 10a10.2
30peroxisome biogenesis disorder 5a10.2
31peroxisome biogenesis disorder 8a,10.2
32peroxisome biogenesis disorder 2a10.2
33peroxisome biogenesis disorder 3a10.2
34peroxisome biogenesis disorder 7a10.2
35astrocytoma10.2
36tuberous sclerosis10.1
37asphyxiating thoracic dystrophy10.1
38peroxisomal acyl-coa oxidase deficiency10.1
39meckel syndrome10.1
40intestinal lymphangiectasia10.1
41acatalasia10.0
42neuroaxonal dystrophy10.0
43beta-ketothiolase deficiency10.0
44cerebritis10.0
45hemosiderosis10.0
46corneal ulcer10.0
47peroxisomal disease10.0
48retinitis10.0
49hydrops fetalis10.0
50hyperpipecolatemia10.0

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



Diseases related to zellweger syndrome

Symptoms for Zellweger Syndrome

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47OMIM
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Clinical features from OMIM:

214100

Drugs & Therapeutics for Zellweger Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Zellweger Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Zellweger Syndrome:

33
Liver, Kidney, Heart, Skin, Brain, Testes, Ovary, Cerebellum

Animal Models for Zellweger Syndrome or affiliated genes

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Publications for Zellweger Syndrome

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52PubMed
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Articles related to Zellweger Syndrome:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. (24030027)
2013
2
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
3
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (19449432)
2009
4
Identification of a novel PEX14 mutation in Zellweger syndrome. (21686775)
2009
5
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. (19541270)
2009
6
Anesthesia for the child with Zellweger syndrome: a case report. (16490113)
2006
7
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. (16484405)
2006
8
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. (11161822)
2001
9
First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. (11339194)
2001
10
Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome. (10700594)
2000
11
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. (10480353)
1999
12
Identification of a common PEX1 mutation in Zellweger syndrome. (10447258)
1999
13
Zellweger syndrome in Saudi Arabia and its distinct features. (10047940)
1999
14
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (9837814)
1998
15
Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome. (9686379)
1998
16
Protein kinase C activity, phosphate uptake and endogenous substrate phosphorylation are altered in Zellweger syndrome. (8892024)
1996
17
Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome. (7564246)
1995
18
Subependymal germinolytic cysts in Zellweger syndrome. (7567228)
1995
19
Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome. (8582432)
1995
20
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts. (7807942)
1994
21
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (20301621)
1993
22
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
23
Peroxisomal chain-shortening of thromboxane B2: evidence for impaired degradation of thromboxane B2 in Zellweger syndrome. (8371058)
1993
24
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. (8511016)
1993
25
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. (1430210)
1992
26
Importance of peroxisomes in the formation of chenodeoxycholic acid in human liver. Metabolism of 3 alpha,7 alpha-dihydroxy-5 beta-cholestanoic acid in Zellweger syndrome. (2000261)
1991
27
Major peroxisomal membrane polypeptides are synthesized in cultured skin fibroblasts from patients with Zellweger syndrome. (2771521)
1989
28
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
29
Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome. (2689450)
1989
30
Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa. (3046788)
1988
31
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. (3119940)
1987
32
Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening. (3612402)
1987
33
Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts. (3662528)
1987
34
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
35
Localization of pipecolic acid metabolism in rat liver peroxisomes: probable explanation for hyperpipecolataemia in Zellweger syndrome. (3116331)
1987
36
Zellweger syndrome (cerebro-hepato-renal syndrome). (3654575)
1987
37
The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. (3319743)
1987
38
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
39
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. (2868085)
1986
40
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. (3955868)
1986
41
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
42
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome. (2944672)
1986
43
The significance of hyperpipecolatemia in Zellweger syndrome. (3087161)
1986
44
A milder variant of Zellweger syndrome. (4076250)
1985
45
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. (4080458)
1985
46
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome. (3977916)
1985
47
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis. (3930873)
1985
48
Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. (6207587)
1984
49
Biochemical studies in the liver and muscle of patients with Zellweger syndrome. (6877906)
1983
50
Mitochondrial myopathy of cerebro-hepato-renal (Zellweger) syndrome. (6616347)
1983

Variations for Zellweger Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Zellweger Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
2PEX1NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro)single nucleotide variantPathogenicrs121434455GRCh37Chr 7, 92134126: 92134126

Expression for genes affiliated with Zellweger Syndrome

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2BioGPS, 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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50PathCards, 30KEGG
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Pathways related to Zellweger Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
16.7PEX1, PEX12, PEX10, PEX6, PEX16, PEX2

Compounds for genes affiliated with Zellweger Syndrome

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45Novoseek
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Compounds related to Zellweger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acyl-coa459.6PEX6, ABCD3

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 component of peroxisomal membraneGO:0057798.1PEX12, PEX10, PEX16, PEX2
2peroxisomeGO:0057776.9ABCD3, PEX16, PEX6, PEX10, PEX12, PEX1
3peroxisomal membraneGO:0057786.6PEX1, ABCD3, PEX2, PEX16, PEX6, PEX10

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:0066359.5PEX2, ABCD3
2ATP catabolic processGO:0062008.8PEX1, PEX6, ABCD3
3protein targeting to peroxisomeGO:0066258.4PEX16, PEX6, PEX12, PEX1
4protein import into peroxisome matrixGO:0165587.6PEX2, PEX16, PEX10, PEX12, PEX1
5peroxisome organizationGO:0070316.8PEX1, ABCD3, PEX2, PEX16, PEX6, PEX10

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:0426239.6PEX1, PEX6
2protein complex bindingGO:0324039.6PEX1, PEX6
3ATPase activityGO:0168879.3ABCD3, PEX6
4protein C-terminus bindingGO:0080227.7PEX10, PEX16, PEX6, PEX12, PEX1
5protein bindingGO:0055156.6ABCD3, PEX12, PEX1, PEX10, PEX6, PEX16

Products for genes affiliated with Zellweger Syndrome

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Sources for Zellweger Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet