ZS
MCID: ZLL001
MIFTS: 57

Zellweger Syndrome (ZS) malady

Summaries for Zellweger Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 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 zellweger spectrum and adrenoleukodystrophy. 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 skin, ovary and liver, 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:44 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD).

Wikipedia:64 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder,... more...

Description from OMIM:47 214100

Aliases & Classifications for Zellweger Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 40NCIt
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Aliases & Descriptions:

zellweger syndrome 8 43 20 22 44 10 45 61
peroxisome biogenesis disorders 43 20 22 45 61
cerebrohepatorenal syndrome 8 43
zellweger leukodystrophy 43 61
peroxisome biogenesis disorder 8
congenital iron overload 8
chromate resistance 61
chr 43
zws 43
pbd 43
zs 43


External Ids:

Disease Ontology8 DOID:905
OMIM47 214100
SNOMED-CT57 88469006
MeSH35 D015211
NCIt40 C85239

Related Diseases for Zellweger Syndrome

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

zellweger spectrum zellweger-like syndrome without peroxisomal anomalies

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1zellweger spectrum30.8PEX12, PEX1, PEX13, PEX3, PEX5, PEX10
2adrenoleukodystrophy30.8SCP2, EHHADH, ABCD3, ABCD2, PEX12, PEX1
3refsum disease30.7PHYH
4peroxisome disorders30.6ABCD2, ABCD3
5d-bifunctional protein deficiency30.6EHHADH, SCP2
6infantile refsum disease30.6PEX6, PEX1
7neonatal adrenoleukodystrophy30.5PEX6, PEX10, PEX5, PEX1, SCP2
8rhizomelic chondrodysplasia punctata30.5AGPS, PHYH
9n syndrome10.8
10peroxisome biogenesis disorder 1a10.4
11peroxisome biogenesis disorders, zellweger syndrome spectrum10.4
12rhizomelic chondrodysplasia punctata type 110.4
13peroxisome biogenesis disorder 9b10.4
14protein s deficiency10.3
15chondrodysplasia10.3
16chondrodysplasia punctata syndrome10.3
17rhizomelic syndrome10.3
18peroxisome biogenesis disorder 1b10.3
19protein c deficiency10.3
20micro syndrome10.2
21char syndrome10.2
22mass syndrome10.2
23fatty acid oxidation disorders10.2
24usher syndrome10.2
25neuronal migration disorders10.2
26short syndrome10.1
27young syndrome10.1
28hawkinsinuria10.1
29protein r deficiency10.1
30peroxisome biogenesis disorder 6a10.1
31peroxisome biogenesis disorder 13a10.1
32peroxisome biogenesis disorder 14b10.1
33peroxisome biogenesis disorder 12a10.1
34peroxisome biogenesis disorder 11a10.1
35peroxisome biogenesis disorder 4a10.1
36peroxisome biogenesis disorder 10a10.1
37peroxisome biogenesis disorder 5a10.1
38peroxisome biogenesis disorder 8a,10.1
39peroxisome biogenesis disorder 2a10.1
40peroxisome biogenesis disorder 3a10.1
41peroxisome biogenesis disorder 7a10.1
42astrocytoma10.1
43tuberous sclerosis10.1
44asphyxiating thoracic dystrophy10.1
45meckel syndrome10.1
46peroxisomal acyl-coa oxidase deficiency10.1
47intestinal lymphangiectasia10.1
48acatalasia10.0
49beta-ketothiolase deficiency10.0
50hemosiderosis10.0

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



Diseases related to zellweger syndrome

Clinical Features for Zellweger Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

214100

Drugs & Therapeutics for Zellweger Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
33MalaCards
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MalaCards organs/tissues related to Zellweger Syndrome:

33
Skin, Ovary, Liver, Brain, Kidney, Cerebellum, Heart, Skeletal muscle, Small intestine, B lymphoblasts, B cells, Fetal brain, Fetal liver

Animal Models for Zellweger Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Zellweger Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.9EHHADH, PHYH, SCP2
2MP:00053869.8PHYH, EHHADH, ABCD2, PEX13, PEX3, PEX2

Publications for Zellweger Syndrome

Sources:
51PubMed
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Articles related to Zellweger Syndrome:

(show top 50)    (show all 262)
idTitleAuthorsYear
1
Oral manifestations and dental management of a child with Zellweger syndrome. (24382371)
2014
2
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. (23247051)
2013
3
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. (21844578)
2011
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
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
Anesthesia for the child with Zellweger syndrome: a case report. (16490113)
2006
12
Recognition of Zellweger syndrome in infancy. (15685158)
2005
13
Oral bile Acid treatment in two Japanese patients with Zellweger syndrome. (12187304)
2002
14
A case of Zellweger syndrome with extensive MRI abnormalities and unusual EEG findings. (11202139)
2001
15
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). (11583975)
2001
16
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. (10968777)
2000
17
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. (10480353)
1999
18
Zellweger syndrome in Saudi Arabia and its distinct features. (10047940)
1999
19
Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome. (9686379)
1998
20
Localization of nervonic acid beta-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy. (9799802)
1998
21
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. (9452066)
1998
22
A mouse model for Zellweger syndrome. (9288097)
1997
23
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
24
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts. (7807942)
1994
25
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
26
Impaired degradation of prostaglandins and thromboxane in Zellweger syndrome. (7816519)
1994
27
Peroxisomal chain-shortening of thromboxane B2: evidence for impaired degradation of thromboxane B2 in Zellweger syndrome. (8371058)
1993
28
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. (8511016)
1993
29
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
30
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. (1546315)
1992
31
Zellweger syndrome in a preterm, small for gestational age infant. (1583879)
1992
32
Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome. (1560037)
1992
33
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. (1946426)
1991
34
Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: implications for Zellweger syndrome. (1770789)
1991
35
The 22-kD peroxisomal integral membrane protein in Zellweger syndrome--presence, abundance, and association with a peroxisomal thiolase precursor protein. (1673025)
1991
36
Cortical cytoarchitectural and immunohistochemical studies on Zellweger syndrome. (1718183)
1991
37
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
38
Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy. (2512431)
1989
39
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
40
Catalase in cultured skin fibroblasts from patients with the cerebro-hepato-renal (Zellweger) syndrome: normal maturation in peroxisome-deficient cells. (3828388)
1987
41
L-pipecolaturia in Zellweger syndrome. (2871866)
1986
42
Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. (3945517)
1986
43
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
44
What is Zellweger syndrome? (3734986)
1986
45
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. (3944694)
1986
46
A milder variant of Zellweger syndrome. (4076250)
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
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. (4070172)
1985
49
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids. (7176294)
1982
50
Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. (7295145)
1981

Genetic Variations for Zellweger Syndrome

Expression for genes affiliated with Zellweger Syndrome

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

Search GEO for disease gene expression data for Zellweger Syndrome.

Pathways for genes affiliated with Zellweger Syndrome

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Zellweger Syndrome

Sources:
45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Zellweger Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pristanic acid45 29 2412.3SCP2, EHHADH, ACOX2
23-oxoacyl-coa4510.3SCP2, EHHADH
3sterol4510.1ACOX2, ABCD2, EHHADH, SCP2
4acyl-coa4510.1PEX6, PEX5, ACOX2, ABCD3, EHHADH, SCP2
5lipid4510.0PEX5, PEX2, PEX1, ABCD3, PHYH, SCP2
6phytanic acid4510.0SCP2, PHYH
7fatty acid459.9ABCD3, EHHADH, AGPS, PHYH, SCP2

GO Terms for genes affiliated with Zellweger Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet