MCID: ZLL001
MIFTS: 46

Zellweger Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Zellweger Syndrome

About this section


NIH Rare Diseases:41 Zellweger syndrome is the most severe form of a spectrum of conditions called zellweger spectrum. 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: 12/7/2014

MalaCards based summary: Zellweger Syndrome, also known as peroxisome biogenesis disorders, is related to peroxisome disorders and peroxisome biogenesis disorder 1b. 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:9 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:42 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...

Aliases & Classifications for Zellweger Syndrome

About this section

Zellweger Syndrome, Aliases & Descriptions:

Name: Zellweger Syndrome 9 41 20 42 11 43 22 60
Peroxisome Biogenesis Disorders 41 20 43 22 60
Cerebrohepatorenal Syndrome 9 41
Zellweger Leukodystrophy 41 60
Peroxisome Biogenesis Disorder 9
Congenital Iron Overload 9
 
Chromate Resistance 60
Chr 41
Pbd 41
Zws 41
Zs 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:905
MeSH33 D015211
SNOMED-CT55 88469006
NCIt38 C85239

Related Diseases for Zellweger Syndrome

About this section

Diseases in the Zellweger Syndrome family:

Zellweger Spectrum

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome disorders30.7PEX1, PEX5, PEX2
2peroxisome biogenesis disorder 1b30.5PEX6, PEX1
3peroxisome biogenesis disorder 2b30.5PEX5
4neonatal adrenoleukodystrophy30.2PEX5, PEX10, PEX1, PEX6
5rhizomelic chondrodysplasia punctata30.1PEX3, PEX5, PEX12
6zellweger spectrum29.0PEX5, PEX3, PEX26, PEX16, PEX6, PEX10
7adrenoleukodystrophy28.9PEX26, PEX6, PEX10, PEX3, PEX5, PEX12
8peroxisome biogenesis disorder 9b10.6
9peroxisome biogenesis disorder 1a10.5
10d-bifunctional protein deficiency10.4
11neuronitis10.4
12chondrodysplasia punctata10.4
13peroxisome biogenesis disorders, zellweger syndrome spectrum10.4
14chondrodysplasia10.4
15rhizomelic chondrodysplasia punctata, type 110.4
16refsum disease10.3
17myopathy10.3
18mulibrey nanism10.2PEX5
19rhizomelic chondrodysplasia punctata, type 310.2
20chondrodysplasia punctata, rhizomelic, type 210.2
21chronic granulomatous disease10.2
22usher syndrome10.2
23hypertrichosis congenital generalized x-linked10.2
24peroxisome biogenesis disorder 6a10.2
25peroxisome biogenesis disorder 13a10.2
26peroxisome biogenesis disorder 14b10.2
27peroxisome biogenesis disorder 12a10.2
28peroxisome biogenesis disorder 11a10.2
29peroxisome biogenesis disorder 4a10.2
30peroxisome biogenesis disorder 10a10.2
31peroxisome biogenesis disorder 5a10.2
32peroxisome biogenesis disorder 2a10.2
33peroxisome biogenesis disorder 3a10.2
34peroxisome biogenesis disorder 7a10.2
35peroxisome biogenesis disorder 8a,10.2
36hepatitis10.2
37thiolase deficiency10.2
38neuronal migration disorders10.2
39astrocytoma10.2
40peroxisomal acyl-coa oxidase deficiency10.1
41tuberous sclerosis10.1
42asphyxiating thoracic dystrophy10.1
43peroxisome biogenesis disorder 6b10.0
44peroxisome biogenesis disorder 11b10.0
45peroxisome biogenesis disorder 4b10.0
46peroxisome biogenesis disorder 5b10.0
47peroxisome biogenesis disorder 8b10.0
48alpha-methylacetoacetic aciduria10.0
49peroxisome biogenesis disorder 3b10.0
50peroxisome biogenesis disorder 7b10.0

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



Diseases related to zellweger syndrome

Symptoms for Zellweger Syndrome

About this section

Drugs & Therapeutics for Zellweger Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Zellweger Syndrome

Search NIH Clinical Center for Zellweger Syndrome

Genetic Tests for Zellweger Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Zellweger Syndrome:

31
Liver, Heart, Kidney, Skin, Brain, Testes, Cerebellum, Ovary

Animal Models for Zellweger Syndrome or affiliated genes

About this section

Publications for Zellweger Syndrome

About this section

Articles related to Zellweger Syndrome:

(show top 50)    (show all 254)
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
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

About this section

Clinvar genetic disease variations for Zellweger Syndrome:

6
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Zellweger Syndrome.

Pathways for genes affiliated with Zellweger Syndrome

About this section

Pathways related to Zellweger Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6PEX3, ABCD3
25.8PEX1, ABCD3, PEX5, PEX3, PEX26, PEX2

Compounds for genes affiliated with Zellweger Syndrome

About this section
Sources:
43Novoseek
See all sources

Compounds related to Zellweger Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1acyl-coa438.9PEX6, PEX5, ABCD3
2lipid438.8PEX1, PEX2, PEX5, ABCD3

GO Terms for genes affiliated with Zellweger Syndrome

About this section

Cellular components related to Zellweger Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:00057829.4PEX5, ABCD3
2intracellular membrane-bounded organelleGO:00432319.0ABCD3, PEX3, PEX1
3cytosolGO:00058298.3PEX1, PEX6, PEX3, PEX5, ABCD3
4integral component of peroxisomal membraneGO:00057797.4PEX12, PEX10, PEX16, PEX2, PEX26, PEX3
5peroxisomal membraneGO:00057786.7PEX2, PEX3, PEX5, ABCD3, PEX16, PEX6
6peroxisomeGO:00057776.2PEX1, PEX12, PEX10, PEX6, PEX16, PEX26

Biological processes related to Zellweger Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome matrix, translocationGO:00165619.6PEX5, PEX6
2neuron migrationGO:00017649.5PEX2, PEX5
3peroxisome membrane biogenesisGO:00165579.4PEX16, PEX3
4ATP catabolic processGO:00062009.4ABCD3, PEX6, PEX1
5fatty acid beta-oxidationGO:00066359.2PEX2, PEX5, ABCD3
6very long-chain fatty acid metabolic processGO:00000389.2PEX2, PEX5
7protein targeting to peroxisomeGO:00066258.5PEX5, PEX16, PEX6, PEX12, PEX1
8protein import into peroxisome membraneGO:00450468.1PEX5, PEX3, PEX26, PEX16
9peroxisome organizationGO:00070317.4PEX1, ABCD3, PEX3, PEX2, PEX16, PEX6
10protein import into peroxisome matrixGO:00165587.2PEX5, PEX26, PEX2, PEX16, PEX10, PEX12

Molecular functions related to Zellweger Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.8PEX6, ABCD3
2ATPase activity, coupledGO:00426239.8PEX6, PEX1
3protein complex bindingGO:00324038.7PEX1, PEX6, PEX26
4protein C-terminus bindingGO:00080227.1PEX1, PEX5, PEX26, PEX16, PEX6, PEX10
5protein bindingGO:00055155.8ABCD3, PEX5, PEX3, PEX26, PEX2, PEX16

Products for genes affiliated with Zellweger Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Zellweger Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet