MCID: ZLL001
MIFTS: 45

Zellweger Syndrome malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Zellweger Syndrome

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Aliases & Descriptions for Zellweger Syndrome:

Name: Zellweger Syndrome 10 45 22 46 47 12 24 65 36
Cerebrohepatorenal Syndrome 10 45 22
Zellweger Leukodystrophy 45 65
Peroxisome Biogenesis Disorders 65
Peroxisome Biogenesis Disorder 10
Congenital Iron Overload 10
 
Chromate Resistance 65
Zes 22
Zws 45
Chr 45
Zs 45


Classifications:



External Ids:

Disease Ontology10 DOID:905
NCIt42 C85239
SNOMED-CT59 88469006
MeSH36 D015211

Summaries for Zellweger Syndrome

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NIH Rare Diseases:45 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 cerebrohepatorenal syndrome, is related to peroxisome biogenesis disorder 11a and peroxisome biogenesis disorder 6a. 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. Affiliated tissues include liver, heart and kidney.

Disease Ontology:10 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:46 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD).

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 Suite gene sharing:

(show top 50)    (show all 164)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 11a30.6PEX1, PEX13
2peroxisome biogenesis disorder 6a30.5PEX10, PEX13
3peroxisome biogenesis disorder 11b30.1PEX1, PEX13
4peroxisome biogenesis disorder 6b30.0PEX10, PEX13
5peroxisome disorders29.7PEX10, PEX12, PEX13, PEX3, PEX5, PEX6
6refsum disease28.4PEX1, PEX10, PEX12, PEX13, PEX16, PEX19
7peroxisome biogenesis disorder 1b28.3ABCD3, PEX1, PEX10, PEX12, PEX13, PEX16
8adrenoleukodystrophy10.6
9peroxisome biogenesis disorder 1a10.6
10zellweger spectrum10.5
11zollinger-ellison syndrome10.5
12heimler syndrome 210.5
13chondrodysplasia punctata, rhizomelic, type 110.5
14heimler syndrome 110.5
15neonatal adrenoleukodystrophy10.4
16peroxisome biogenesis disorder 5a10.4
17rhizomelic chondrodysplasia punctata10.4
18neuronitis10.4
19chondrodysplasia punctata10.4
20peroxisome biogenesis disorders, zellweger syndrome spectrum10.4
21aphthous stomatitis10.4
22central nervous system disease10.4
23nervous system disease10.4
24prion disease10.4
25genetic brain disorders10.4
26encephalopathy10.4
27peroxisome biogenesis disorder 13a10.4
28peroxisome biogenesis disorder 12a10.4
29peroxisome biogenesis disorder 4a10.4
30peroxisome biogenesis disorder 10a10.4
31peroxisome biogenesis disorder 8a,10.4
32peroxisome biogenesis disorder 2a10.4
33peroxisome biogenesis disorder 3a10.4
34peroxisome biogenesis disorder 7a10.4
35peroxisomal biogenesis disorders10.4
36d-bifunctional protein deficiency10.3
37alpha-methylacetoacetic aciduria10.3
38myopathy10.3
39bifunctional enzyme deficiency10.3
40coronary heart disease 210.3
41coronary artery disease10.3
42coronary heart disease 410.3
43peripheral vascular disease10.3
44ischemic heart disease10.3
45arteriosclerosis10.3
46artery disease10.3
47hepatitis c virus10.2
48galactosemia10.2
49chronic end-stage hepatitis c10.2
50liver disease10.2

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



Diseases related to zellweger syndrome

Symptoms for Zellweger Syndrome

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Drugs & Therapeutics for Zellweger Syndrome

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Drugs for Zellweger Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 380
2Cholic AcidsPhase 37
3
chenodeoxycholic acidapproved23474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
4
Ursodeoxycholic acidapproved, investigational74128-13-231401
Synonyms:
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7b)-3,7-dihydroxy-cholan-24-oic acid
(3a,5b,7b)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta)-3,7-dihydroxycholan-24-oic acid
(3alpha,5beta,7beta,8xi)-3,7-dihydroxycholan-24-oic acid
(3α,5β,7β)-3,7-dihydroxycholan-24-oic acid
(4R)-4-[(3R,5S,7S,8R,9S,10S,13R,14S,17R)-3,7-dihydroxy-10,13-dimethyl-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl]pentanoic acid
128-13-2
17-beta-(1-Methyl-3-carboxypropyl)etiocholane-3-alpha,7-beta-diol
3 alpha,7 beta-Dihydroxy-5 beta-cholan-24-oic Acid
3,7-Dihydroxycholan-24-oic acid
3-alpha,7-beta-Dihydroxy-5-beta-cholanoic acid
3-alpha,7-beta-Dihydroxycholanic acid
3-alpha,7-beta-Dioxycholanic acid
3a,7b-Dihydroxy-5b-cholan-24-oate
3a,7b-Dihydroxy-5b-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholan-24-oic acid
3alpha,7beta-Dihydroxy-5beta-cholanic acid
4-10-00-01604 (Beilstein Handbook Reference)
50809-41-1
5beta-Cholan-24-oic acid-3alpha,7beta-diol
5beta-Cholanic Acid-3alpha,7beta-diol
7-beta-Hydroxylithocholic acid
7beta-Hydroxylithocholic acid
80225-86-1
AB00513977
AC-18919
AC-2081
AC1L1LJH
Acide ursodesoxycholique
Acide ursodesoxycholique [INN-French]
Acido ursodeossicolico
Acido ursodeossicolico [Italian]
Acido ursodeoxicolico
Acido ursodeoxicolico [INN-Spanish]
Acidum ursodeoxycholicum
Acidum ursodeoxycholicum [INN-Latin]
Actigall
Actigall (TN)
Antigall
Arsacol
BB_NC-2372
BPBio1_001052
BRN 3219888
BSPBio_000956
C07880
C24H40O4
CCRIS 5502
CHEBI:9907
CHEMBL1551
CHEMBL73390
CID11516715
CID31401
CPD-10534
CPD000058403
Cholan-24-oic acid, 3,7-dihydroxy-, (3-alpha,5-beta,7-beta)- (9CI)
Cholit-ursan
D00734
DB01586
Delursan
Deoxyursocholic Acid
Destolit
Deursil
Dom-ursodiol c
EINECS 204-879-3
HMS1570P18
ISO-URSODEOXYCHOLIC ACID
 
IU5
LMST04010033
LS-53033
Litursol
Lyeton
MLS000028461
MLS001066373
MolPort-001-794-630
MolPort-005-932-884
NCGC00179363-01
NCI60_028904
NSC 657950
NSC 683769
PHL-ursodiol c
PMS-ursodiol c
Peptarom
Prestwick0_000958
Prestwick1_000958
Prestwick2_000958
Prestwick3_000958
S1643_Selleck
SAM002264653
SMP2_000012
SMR000058403
SPBio_003105
Sodium Ursodeoxycholate
Solutrat
U-9000
U0030
U5127_SIGMA
UDCA
UDCS
UNII-724L30Y2QR
URSODEOXYCHOLIC ACID
UrSO
Urosdesoxycholate
Urosdesoxycholic acid
Urosiol
Ursacholic Acid
Ursacol
Urso
Urso (TN)
Urso 250
Urso DS
Urso Forte
Ursobilin
Ursochol
Ursodamor
Ursodeoxy cholic acid
Ursodeoxycholate
Ursodeoxycholic acid
Ursodeoxycholic acid (JP15/INN)
Ursodeoxycholic acid, UDCA, Ursosan, Ursofalk, Urso Forte, Udiliv, Ursodiol
Ursodeoxycholicacid
Ursodesoxycholic acid
Ursodexycholate
Ursodexycholic Acid
Ursodexycholic acid
Ursodiol
Ursodiol (USP)
Ursodiol Tablets, 250 mg
Ursodiol Tablets, 500 mg
Ursodiol [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
5Cathartics278
6Laxatives278

Interventional clinical trials:

idNameStatusNCT IDPhase
1Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic AcidCompletedNCT00007020Phase 3
2Study of Bile Acids in Patients With Peroxisomal DisordersTerminatedNCT00004442

Search NIH Clinical Center for Zellweger Syndrome


Cochrane evidence based reviews: Zellweger Syndrome

Genetic Tests for Zellweger Syndrome

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Genetic tests related to Zellweger Syndrome:

id Genetic test Affiliating Genes
1 Zellweger Syndrome22 24

Anatomical Context for Zellweger Syndrome

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MalaCards organs/tissues related to Zellweger Syndrome:

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

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 253)
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

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Clinvar genetic disease variations for Zellweger Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PEX1NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter)single nucleotide variantLikely pathogenic, Pathogenicrs61750418GRCh37Chr 7, 92131237: 92131237
2PEX1NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs)duplicationPathogenicrs794729652GRCh37Chr 7, 92120645: 92120645
3PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
4PEX1NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121434455GRCh37Chr 7, 92134126: 92134126
5PEX1NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del)deletionPathogenic
6PEX1NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)duplicationPathogenicrs61750415GRCh37Chr 7, 92132484: 92132484
7PEX1PEX1, 1-BP DEL, 2916AdeletionPathogenic

Expression for genes affiliated with Zellweger Syndrome

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Search GEO for disease gene expression data for Zellweger Syndrome.

Pathways for genes affiliated with Zellweger Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0ABCD3, PEX19, PEX3
25.5ABCD3, PEX1, PEX10, PEX12, PEX13, PEX16

GO Terms for genes affiliated with Zellweger Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:000578210.1ABCD3, PEX5
2integral component of peroxisomal membraneGO:00057798.5PEX10, PEX12, PEX13, PEX16, PEX2, PEX3
3intracellular membrane-bounded organelleGO:00432318.2ABCD3, PEX1, PEX13, PEX19, PEX3
4peroxisomeGO:00057775.7ABCD3, PEX1, PEX10, PEX12, PEX13, PEX16
5peroxisomal membraneGO:00057785.6ABCD3, PEX1, PEX10, PEX12, PEX13, PEX16

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1microtubule-based peroxisome localizationGO:006015210.1PEX1, PEX13
2protein import into peroxisome matrix, dockingGO:001656010.1PEX13, PEX5
3very long-chain fatty acid metabolic processGO:000003810.0PEX2, PEX5
4cerebral cortex cell migrationGO:002179510.0PEX13, PEX5
5protein import into peroxisome matrix, translocationGO:00165619.8PEX5, PEX6
6peroxisome membrane biogenesisGO:00165579.2PEX16, PEX19, PEX3
7neuron migrationGO:00017649.2PEX13, PEX2, PEX5
8fatty acid beta-oxidationGO:00066359.1ABCD3, PEX2, PEX5
9protein import into peroxisome membraneGO:00450468.8PEX16, PEX19, PEX3, PEX5
10protein import into peroxisome matrixGO:00165588.7PEX1, PEX10, PEX12, PEX16, PEX2, PEX5
11protein targeting to peroxisomeGO:00066257.7PEX1, PEX12, PEX16, PEX19, PEX5, PEX6
12peroxisome organizationGO:00070316.3ABCD3, PEX1, PEX10, PEX12, PEX16, PEX19

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupledGO:004262310.0PEX1, PEX6
2protein C-terminus bindingGO:00080227.8PEX1, PEX10, PEX12, PEX16, PEX5, PEX6
3protein bindingGO:00055155.5ABCD3, PEX1, PEX10, PEX12, PEX13, PEX16

Sources for Zellweger Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet