MCID: ZLL001
MIFTS: 49

Zellweger Syndrome malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Zellweger Syndrome

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Aliases & Descriptions for Zellweger Syndrome:

Name: Zellweger Syndrome 11 46 23 47 13 48 37 66
Cerebrohepatorenal Syndrome 11 46 23
Zellweger Leukodystrophy 46 66
Zs 46 23
Peroxisome Biogenesis Disorder 11
 
Congenital Iron Overload 11
Zellweger's Syndrome 25
Chromate Resistance 66
Zws 46
Chr 46

Classifications:



External Ids:

Disease Ontology11 DOID:905
ICD1028 E71.510
SNOMED-CT60 88469006
MeSH37 D015211
NCIt43 C85239

Summaries for Zellweger Syndrome

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NIH Rare Diseases:46 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, and has symptoms including hepatomegaly, hepatomegaly and seizures. An important gene associated with Zellweger Syndrome is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways is Peroxisome. Affiliated tissues include liver, heart and kidney, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:11 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:47 Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD).

Wikipedia:69 Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... more...

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 62)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 11a30.3PEX1, PEX13
2peroxisome biogenesis disorder 6a29.9PEX10, PEX13
3peroxisome biogenesis disorder 11b29.6PEX1, PEX13
4peroxisome biogenesis disorder 6b29.3PEX10, PEX13
5peroxisomal disease24.3ABCD3, PEX1, PEX10, PEX12, PEX13, PEX14
6peroxisome biogenesis disorders, zellweger syndrome spectrum12.1
7zellweger spectrum11.6
8d-bifunctional protein deficiency11.5
9peroxisome biogenesis disorder 1a11.3
10peroxisome biogenesis disorder 5a11.2
11alpha-methylacetoacetic aciduria11.0
12refsum disease10.5
13bifunctional enzyme deficiency10.5
14adrenoleukodystrophy10.3
15peroxisome disorders10.3
16peroxisome biogenesis disorder 1b10.2
17neonatal adrenoleukodystrophy10.2
18rhizomelic chondrodysplasia punctata10.1
19neuronitis10.1
20peroxisomal biogenesis disorders10.1
21peroxisome biogenesis disorder 13a10.1
22peroxisome biogenesis disorder 12a10.1
23peroxisome biogenesis disorder 4a10.1
24peroxisome biogenesis disorder 10a10.1
25peroxisome biogenesis disorder 8a,10.1
26peroxisome biogenesis disorder 2a10.1
27peroxisome biogenesis disorder 3a10.1
28peroxisome biogenesis disorder 7a10.1
29myopathy10.0
30cholinergic urticaria10.0ABCD3, PEX5
31peroxisome biogenesis disorder 14b10.0
32hepatitis9.9
33neuronal migration disorders9.9
34peroxisome biogenesis disorder 4b9.8
35peroxisome biogenesis disorder 9b9.8
36peroxisome biogenesis disorder 5b9.8
37peroxisome biogenesis disorder 8b9.8
38peroxisome biogenesis disorder 2b9.8
39peroxisome biogenesis disorder 3b9.8
40peroxisome biogenesis disorder 7b9.8
41refsum disease, infantile form9.8
42hemosiderosis9.8
43neuroaxonal dystrophy9.8
44cerebritis9.8
45retinitis9.8
46corneal ulcer9.8
47hydrops fetalis9.8
48hyperpipecolatemia9.8
49ketothiolase deficiency9.8
50hypoxia9.8

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



Diseases related to zellweger syndrome

Symptoms for Zellweger Syndrome

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UMLS symptoms related to Zellweger Syndrome:


hepatomegaly, seizures

Drugs & Therapeutics for Zellweger Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ursodeoxycholic acid83128-13-231401
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 [USAN]
Ursofalk
Ursolvan
Ursosan
chenodeoxycholic acid
ursodeoxycholate
ursodiol
2
chenodeoxycholic acid28474-25-910133
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
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid

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 Syndrome25 23

Anatomical Context for Zellweger Syndrome

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MalaCards organs/tissues related to Zellweger Syndrome:

34
Liver, Heart, Kidney, Skin, Brain, Testes, Ovary

Animal Models for Zellweger Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Zellweger Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ABCD3, PEX1, PEX13, PEX2, PEX5
2MP:00053766.8ABCD3, PEX1, PEX10, PEX13, PEX2, PEX26

Publications for Zellweger Syndrome

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Articles related to Zellweger Syndrome:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. (26615381)
2015
2
Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. (23716570)
2013
3
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. (22894767)
2012
4
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. (21848015)
2011
5
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
6
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. (19877282)
2010
7
Germinal matrix hemorrhage in Zellweger syndrome. (20952722)
2010
8
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (19449432)
2009
9
Identification of a novel PEX14 mutation in Zellweger syndrome. (21686775)
2009
10
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (19105186)
2009
11
Identification of a novel PEX14 mutation in Zellweger syndrome. (18285423)
2008
12
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. (17702006)
2007
13
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. (16484405)
2006
14
Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome. (12867281)
2003
15
Plasmalogen content and beta-adrenoceptor signalling in fibroblasts from patients with Zellweger syndrome. Effects of hexadecylglycerol. (12457713)
2002
16
Zellweger syndrome knockout mouse models challenge putative peroxisomal beta-oxidation involvement in docosahexaenoic acid (22:6n-3) biosynthesis. (11161822)
2001
17
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. (10480353)
1999
18
Identification of a common PEX1 mutation in Zellweger syndrome. (10447258)
1999
19
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
20
Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome. (9686378)
1998
21
Subependymal germinolytic cysts in Zellweger syndrome. (7567228)
1995
22
MRI findings of Zellweger syndrome. (8771174)
1995
23
A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts. (7807942)
1994
24
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
25
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7. (8511016)
1993
26
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. (1946426)
1991
27
Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: implications for Zellweger syndrome. (1770789)
1991
28
Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome. (1679469)
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
Polyunsaturated fatty acid changes suggesting a new enzymatic defect in Zellweger syndrome. (2755305)
1989
32
Role of liver peroxisomes in bile acid formation: inborn error of C27-steroid side chain cleavage in peroxisome deficiency (Zellweger syndrome). (2658011)
1989
33
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. (2468817)
1988
34
Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome. (3395335)
1988
35
The Zellweger syndrome: deficient chain-shortening of erucic acid (22:1 (n-9)) and adrenic acid (22:4 (n-6)) in cultured skin fibroblasts. (3349094)
1988
36
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. (3119940)
1987
37
Diagnosis of Zellweger syndrome by analysis of bile acids and plasmalogens in stored dried blood collected at neonatal screening. (3612402)
1987
38
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. (2445576)
1987
39
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. (3618126)
1987
40
Peroxisomes and peroxisomal functions in muscle. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome. (3569428)
1987
41
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. (2868085)
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
Deficient activities and proteins of peroxisomal beta-oxidation enzymes in infants with Zellweger syndrome. (3519003)
1986
45
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. (2995971)
1985
46
Peroxisomal matrix enzymes in Zellweger syndrome: activity and subcellular localization in liver. (2864474)
1985
47
The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection. (4047762)
1985
48
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome. (6148939)
1984
49
Biochemical studies in the liver and muscle of patients with Zellweger syndrome. (6877906)
1983
50
The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings. (307490)
1978

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.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876

Copy number variations for Zellweger Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1215229673300000149100000Copy numberPEX3Zellweger syndrome

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 pathwaysScoreTop Affiliating Genes
15.5ABCD3, PEX1, PEX10, PEX12, PEX13, PEX14

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
1intracellular membrane-bounded organelleGO:00432318.4ABCD3, PEX1, PEX13, PEX14, PEX3
2integral component of peroxisomal membraneGO:00057797.7PEX10, PEX12, PEX13, PEX16, PEX2, PEX26
3membraneGO:00160207.3ABCD3, PEX13, PEX14, PEX16, PEX2, PEX3
4peroxisomal membraneGO:00057786.8ABCD3, PEX1, PEX10, PEX12, PEX13, PEX14
5peroxisomeGO:00057775.9ABCD3, PEX1, PEX10, PEX12, PEX13, PEX14

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1microtubule-based peroxisome localizationGO:006015210.1PEX1, PEX13
2peroxisome membrane biogenesisGO:001655710.0PEX16, PEX3
3negative regulation of protein homotetramerizationGO:190109410.0PEX14, PEX5
4protein import into peroxisome matrix, dockingGO:001656010.0PEX13, PEX5
5protein targeting to peroxisomeGO:00066259.7PEX1, PEX12, PEX16
6cerebral cortex cell migrationGO:00217959.6PEX13, PEX5
7fatty acid beta-oxidationGO:00066359.2ABCD3, PEX2, PEX5
8protein import into peroxisome membraneGO:00450468.8PEX16, PEX26, PEX3, PEX5
9protein import into peroxisome matrixGO:00165587.1PEX1, PEX10, PEX12, PEX14, PEX16, PEX2
10peroxisome organizationGO:00070317.1ABCD3, PEX1, PEX10, PEX12, PEX14, PEX16

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.1PEX1, PEX12, PEX16, PEX26
2protein bindingGO:00055155.5ABCD3, PEX1, PEX10, PEX12, PEX13, PEX14

Sources for Zellweger Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet