ZS
MCID: ZLL001
MIFTS: 55

Zellweger Syndrome (ZS) malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases, Liver diseases categories
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Summaries for Zellweger Syndrome

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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 based summary: Zellweger Syndrome, also known as peroxisome biogenesis disorders, is related to peroxisome disorders and peroxisome biogenesis disorder 2b. An important gene associated with Zellweger Syndrome is PEX1 (peroxisomal biogenesis factor 1), and among its related pathways are ABC-family proteins mediated transport and Peroxisome. The compounds acyl-coa and lipid have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney.

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:65 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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Zellweger Syndrome, Aliases & Descriptions:

Name: Zellweger Syndrome 8 42 20 22 43 10 44 62
Peroxisome Biogenesis Disorders 42 20 22 44 62
Cerebrohepatorenal Syndrome 8 42
Congenital Iron Overload 8 62
Zellweger Leukodystrophy 42 62
Peroxisome Biogenesis Disorder 8
 
Cerebro-Hepato-Renal Syndrome 62
Chromate Resistance 62
Chr 42
Zws 42
Pbd 42
Zs 42


Classifications:



External Ids:

Disease Ontology8 DOID:905
NCIt39 C85239
SNOMED-CT57 88469006
MeSH34 D015211
OMIM46 214100

Related Diseases for Zellweger Syndrome

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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 76)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome disorders30.7PEX1, PEX5, PEX2
2peroxisome biogenesis disorder 2b30.5PEX5
3rhizomelic chondrodysplasia punctata30.2PEX3, PEX5, PEX12
4peroxisomal acyl-coa oxidase deficiency29.8PEX5, PEX10, PEX1, PEX6
5zellweger spectrum29.0PEX5, PEX3, PEX26, PEX16, PEX6, PEX10
6adrenoleukodystrophy28.9PEX26, PEX6, PEX10, PEX3, PEX5, PEX12
7peroxisome biogenesis disorder 1a10.5
8d-bifunctional protein deficiency10.5
9peroxisome biogenesis disorder 9b10.5
10neonatal adrenoleukodystrophy10.4
11neuronitis10.4
12chondrodysplasia10.4
13peroxisome biogenesis disorder 1b10.4
14rhizomelic chondrodysplasia punctata type 110.4
15refsum disease10.3
16peroxisome biogenesis disorders, zellweger syndrome spectrum10.3
17infantile refsum disease10.3
18myopathy10.3
19mulibrey nanism10.2PEX5
20usher syndrome10.2
21rhizomelic chondrodysplasia punctata type 210.2
22rhizomelic chondrodysplasia punctata, type 310.2
23hepatitis10.2
24hawkinsinuria10.2
25neuronal migration disorders10.2
26peroxisome biogenesis disorder 6a10.2
27peroxisome biogenesis disorder 13a10.2
28peroxisome biogenesis disorder 14b10.2
29peroxisome biogenesis disorder 12a10.2
30peroxisome biogenesis disorder 11a10.2
31peroxisome biogenesis disorder 4a10.2
32peroxisome biogenesis disorder 10a10.2
33peroxisome biogenesis disorder 5a10.2
34peroxisome biogenesis disorder 8a,10.2
35peroxisome biogenesis disorder 2a10.2
36peroxisome biogenesis disorder 3a10.2
37peroxisome biogenesis disorder 7a10.2
38astrocytoma10.2
39tuberous sclerosis10.1
40asphyxiating thoracic dystrophy10.1
41meckel syndrome10.1
42acatalasia10.0
43neuroaxonal dystrophy10.0
44beta-ketothiolase deficiency10.0
45hemosiderosis10.0
46cerebritis10.0
47corneal ulcer10.0
48peroxisomal disease10.0
49retinitis10.0
50hydrops fetalis10.0

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



Diseases related to zellweger syndrome

Symptoms for Zellweger Syndrome

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Clinical features from OMIM:

214100

Drugs & Therapeutics for Zellweger Syndrome

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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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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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MalaCards organs/tissues related to Zellweger Syndrome:

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

Animal Models for Zellweger Syndrome or affiliated genes

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Publications for Zellweger Syndrome

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Articles related to Zellweger Syndrome:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. (24881576)
2014
2
Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. (24030027)
2013
3
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
4
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (19449432)
2009
5
Identification of a novel PEX14 mutation in Zellweger syndrome. (21686775)
2009
6
Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. (19541270)
2009
7
Anesthesia for the child with Zellweger syndrome: a case report. (16490113)
2006
8
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. (16484405)
2006
9
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. (11161822)
2001
10
First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome. (11339194)
2001
11
Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome. (10700594)
2000
12
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. (10480353)
1999
13
Identification of a common PEX1 mutation in Zellweger syndrome. (10447258)
1999
14
Zellweger syndrome in Saudi Arabia and its distinct features. (10047940)
1999
15
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (9837814)
1998
16
Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome. (9686379)
1998
17
MR in a patient with Zellweger syndrome presenting without cortical or myelination abnormalities. (9726486)
1998
18
Protein kinase C activity, phosphate uptake and endogenous substrate phosphorylation are altered in Zellweger syndrome. (8892024)
1996
19
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
20
Subependymal germinolytic cysts in Zellweger syndrome. (7567228)
1995
21
Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome. (8582432)
1995
22
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts. (7807942)
1994
23
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum (20301621)
1993
24
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
25
Peroxisomal chain-shortening of thromboxane B2: evidence for impaired degradation of thromboxane B2 in Zellweger syndrome. (8371058)
1993
26
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. (8511016)
1993
27
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. (1430210)
1992
28
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
29
Major peroxisomal membrane polypeptides are synthesized in cultured skin fibroblasts from patients with Zellweger syndrome. (2771521)
1989
30
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
31
Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa. (3046788)
1988
32
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. (3119940)
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
Zellweger syndrome (cerebro-hepato-renal syndrome). (3654575)
1987
36
The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. (3319743)
1987
37
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
38
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. (2868085)
1986
39
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. (3955868)
1986
40
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
41
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome. (2944672)
1986
42
The significance of hyperpipecolatemia in Zellweger syndrome. (3087161)
1986
43
A milder variant of Zellweger syndrome. (4076250)
1985
44
Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate. (4080458)
1985
45
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome. (3977916)
1985
46
Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis. (3930873)
1985
47
The cerebro-hepato-renal (Zellweger) syndrome: lamellar lipid profiles in adrenocortical, hepatic mesenchymal, astrocyte cells and increased levels of very long chain fatty acids and phytanic acid in the plasma. (4009207)
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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Clinvar genetic disease variations for Zellweger Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1PEX1NM_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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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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Pathways related to Zellweger Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6ABCD3, PEX3
25.8ABCD3, PEX5, PEX3, PEX26, PEX2, PEX16

Compounds for genes affiliated with Zellweger Syndrome

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Compounds related to Zellweger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acyl-coa448.9PEX6, PEX5, ABCD3
2lipid448.8PEX1, PEX2, PEX5, ABCD3

GO Terms for genes affiliated with Zellweger Syndrome

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Cellular components related to Zellweger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:0057829.4PEX5, ABCD3
2intracellular membrane-bounded organelleGO:0432319.0ABCD3, PEX3, PEX1
3cytosolGO:0058298.3PEX1, PEX6, PEX3, PEX5, ABCD3
4integral component of peroxisomal membraneGO:0057797.4PEX12, PEX10, PEX16, PEX2, PEX26, PEX3
5peroxisomal membraneGO:0057786.7PEX2, PEX3, PEX5, ABCD3, PEX16, PEX6
6peroxisomeGO:0057776.2PEX1, PEX12, PEX10, PEX6, PEX16, PEX26

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome matrix, translocationGO:0165619.6PEX5, PEX6
2neuron migrationGO:0017649.5PEX2, PEX5
3peroxisome membrane biogenesisGO:0165579.4PEX16, PEX3
4ATP catabolic processGO:0062009.4ABCD3, PEX6, PEX1
5fatty acid beta-oxidationGO:0066359.2PEX2, PEX5, ABCD3
6very long-chain fatty acid metabolic processGO:0000389.2PEX2, PEX5
7protein targeting to peroxisomeGO:0066258.5PEX5, PEX16, PEX6, PEX12, PEX1
8protein import into peroxisome membraneGO:0450468.1PEX5, PEX3, PEX26, PEX16
9peroxisome organizationGO:0070317.4PEX1, ABCD3, PEX3, PEX2, PEX16, PEX6
10protein import into peroxisome matrixGO:0165587.2PEX5, PEX26, PEX2, PEX16, PEX10, PEX12

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.8PEX6, ABCD3
2ATPase activity, coupledGO:0426239.8PEX6, PEX1
3protein complex bindingGO:0324038.7PEX1, PEX6, PEX26
4protein C-terminus bindingGO:0080227.1PEX1, PEX5, PEX26, PEX16, PEX6, PEX10
5protein bindingGO:0055155.8ABCD3, PEX5, PEX3, PEX26, PEX2, PEX16

Products for genes affiliated with Zellweger Syndrome

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
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29KEGG
34MeSH
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40NDF-RT
43NINDS
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47OMIM via Orphanet
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