MCID: ZLL001
MIFTS: 45

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

Classifications:



External Ids:

Disease Ontology10 DOID:905
ICD1027 E71.510
SNOMED-CT59 88469006
MeSH36 D015211
NCIt42 C85239
UMLS65 C0043459, C1861559, C2930852

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 PEX2 (Peroxisomal Biogenesis Factor 2), and among its related pathways are ABC-family proteins mediated transport and Peroxisome. Affiliated tissues include liver, heart and kidney, and related mouse phenotype liver/biliary system.

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).

Wikipedia:68 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 231)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 11a30.9PEX1, PEX13
2peroxisome biogenesis disorder 6a30.7PEX10, PEX13
3peroxisome biogenesis disorder 11b30.4PEX1, PEX13
4peroxisome biogenesis disorder 6b30.1PEX10, PEX13
5peroxisome biogenesis disorders, zellweger syndrome spectrum12.3
6zellweger spectrum12.0
7peroxisome biogenesis disorder 1a11.8
8d-bifunctional protein deficiency11.7
9peroxisome biogenesis disorder 5a11.6
10alpha-methylacetoacetic aciduria11.4
11peroxisome biogenesis disorder 1b10.6
12peroxisome biogenesis disorder 13a10.5
13peroxisome biogenesis disorder 12a10.5
14peroxisome biogenesis disorder 4a10.5
15peroxisome biogenesis disorder 10a10.5
16peroxisome biogenesis disorder 8a,10.5
17peroxisome biogenesis disorder 2a10.5
18peroxisome biogenesis disorder 3a10.5
19peroxisome biogenesis disorder 7a10.5
20peroxisome biogenesis disorder 14b10.4
21neuronitis10.3
22endotheliitis10.3
23peroxisome biogenesis disorder 4b10.2
24peroxisome biogenesis disorder 9b10.2
25peroxisome biogenesis disorder 5b10.2
26refsum disease10.2
27peroxisome biogenesis disorder 8b10.2
28peroxisome biogenesis disorder 2b10.2
29peroxisome biogenesis disorder 3b10.2
30peroxisome biogenesis disorder 7b10.2
31bifunctional enzyme deficiency10.2
32refsum disease, infantile form10.2
33prostatitis10.2
34pancreatitis10.2
35deafness goiter stippled epiphyses10.2PEX1, PEX6
36colorectal cancer10.1
37malaria10.1
38hiv-110.1
39prostate cancer10.1
40hepatocellular carcinoma10.1
41breast cancer10.1
42coronary artery disease10.1
43arthritis10.1
44crohn's disease10.1
45gastric cancer10.1
46liver disease10.1
47artery disease10.1
48sarcoma10.1
49ehlers-danlos syndrome10.1
50down syndrome10.1

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 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and SaltsPhase 386
2Gastrointestinal AgentsPhase 36401
3Liver ExtractsPhase 33572
4Cholic AcidsPhase 311
5
Ursodeoxycholic acidapproved, investigational78128-13-231401
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
6
chenodeoxycholic acidapproved25474-25-910133
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
7Cathartics344
8Laxatives344

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

Anatomical Context for Zellweger Syndrome

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MalaCards organs/tissues related to Zellweger Syndrome:

33
Liver, Heart, Kidney, Breast, Lung, Brain, Prostate

Animal Models for Zellweger Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Zellweger Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7ABCD3, PEX1, PEX13, PEX2, PEX5

Publications for Zellweger Syndrome

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Articles related to Zellweger Syndrome:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Ecological Niche Modeling of main reservoir hosts of zoonotic cutaneous leishmaniasis in Iran. (27150212)
2016
2
HER2 over-expressing high grade endometrial cancer expresses high levels of p95HER2 variant. (25602714)
2015
3
Metastatic fallopian tube carcinoma presenting as an inguinal hernia. (25675933)
2015
4
Targeting a Plk1-controlled polarity checkpoint in therapy-resistant glioblastoma-propagating cells. (26573800)
2015
5
TIGIT expression levels on human NK cells correlate with functional heterogeneity among healthy individuals. (26171588)
2015
6
Ischaemia-reperfusion injury in central retinal artery occlusion. (24145508)
2013
7
Pitfalls in diagnosing ST elevation among patients with acute myocardial infarction. (23890685)
2013
8
Differential fucosyltransferase IV expression in squamous carcinoma cells is regulated by promoter methylation. (22287018)
2012
9
A large retro-odontoid cystic mass caused by transverse ligament degeneration with atlantoaxial subluxation leading to granuloma formation and chronic recurrent microbleeding case report. (22177924)
2011
10
Researcher into chronic fatigue syndrome is released on bail. (22121165)
2011
11
Ultrasound-guided high-intensity focused ultrasound ablation for adenomyosis: the clinical experience of a single center. (21067723)
2011
12
Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria. (21332590)
2011
13
Tumor necrosis factor alpha gene polymorphism is associated with the outcome of trauma patients in Chinese Han population. (20805766)
2011
14
Integration of genetic, clinical, and INR data to refine warfarin dosing. (20375999)
2010
15
PTPN2 but not PTPN22 is associated with Crohn's disease in a New Zealand population. (20403149)
2010
16
Mitral insufficiency 30 years after resection of subvalvular aortic stenosis. (20304862)
2010
17
The effect of diet on the expression of lipase genes in the midgut of the lightbrown apple moth (Epiphyas postvittana Walker; Tortricidae). (20002216)
2010
18
Difference between proximal and distal microsatellite-unstable sporadic colorectal cancers: analysis of clinicopathological and molecular features and prognoses. (20049642)
2010
19
Nicotine enhances migration and invasion of human esophageal squamous carcinoma cells which is inhibited by nimesulide. (19469000)
2009
20
Plasma visfatin concentration as a surrogate marker for visceral fat accumulation in obese children. (18239648)
2008
21
Synergistic effects of a combination of dietary factors sulforaphane and (-) epigallocatechin-3-gallate in HT-29 AP-1 human colon carcinoma cells. (17657594)
2008
22
Localized lesions in secondary syphilis. (18541087)
2008
23
Insulin increases the activity of mesangial BK channels through MAPK signaling. (18367663)
2008
24
Induction of human arylamine N-acetyltransferase type I by androgens in human prostate cancer cells. (17210686)
2007
25
Functional and molecular analysis of D-serine transport in retinal MA1ller cells. (17094966)
2007
26
Continuous delivery of IFN-beta promotes sustained maturation of intratumoral vasculature. (17579115)
2007
27
Adolescent conduct disorder and interpersonal callousness as predictors of psychopathy in young adults. (17658978)
2007
28
Investigations of a human embryonic globin gene silencing element using YAC transgenic mice. (16514181)
2006
29
Colon cancer cell adhesion in response to Src kinase activation and actin-cytoskeleton by non-laminar shear stress. (15108361)
2004
30
Overexpression of Glut1 in lymphoid follicles correlates with false-positive (18)F-FDG PET results in lung cancer staging. (15181136)
2004
31
Platelet activation markers and soluble adhesion molecules in patients with systemic lupus erythematosus. (11264787)
2001
32
Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis. (10952716)
2000
33
Accelerated functional recovery and neuroprotection by agmatine after spinal cord ischemia in rats. (11108990)
2000
34
Platelet and leucocyte activation in childhood sickle cell disease: association with nocturnal hypoxaemia. (11122087)
2000
35
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia. (11102640)
2000
36
The efficacy of G-CSF and GM-CSF in the adjunctive treatment of infections complicating chemotherapy of acute leukemia in children]. (10731945)
1998
37
Imaging of olfactory neuroblastoma--an analysis of 17 cases. (9673731)
1998
38
Regulation of platelet heparanase during inflammation: role of pH and proteinases. (9572470)
1998
39
Tamoxifen modulates protein kinase C via oxidative stress in estrogen receptor-negative breast cancer cells. (8662863)
1996
40
Iron deprivation inhibits cyclin-dependent kinase activity and decreases cyclin D/CDK4 protein levels in asynchronous MDA-MB-453 human breast cancer cells. (8940249)
1996
41
Synthesis and biological activities of flavonoid derivatives as A3 adenosine receptor antagonists. (8691424)
1996
42
Exogenous expression of human granulocyte colony-stimulating factor receptor in a B-lineage acute lymphoblastic leukemia cell line: a possible model for mixed lineage leukemia. (7538617)
1995
43
LAP (NF-IL6) transactivates the collagen alpha 1(I) gene from a 5' regulatory region. (8040336)
1994
44
Membranous glomerulonephritis and malignancy. (8322793)
1993
45
Use of retail pharmacy for common cold preparations in urban Harare. (8181443)
1993
46
A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). (1351867)
1992
47
Heterogeneity of surface antigens in chronic B-cell lymphoid leukemia]. (1987510)
1991
48
Interleukin-4 prevents the induction of G-CSF mRNA in human adherent monocytes in response to endotoxin and IL-1 stimulation. (1716962)
1991
49
Inhibitory effects of the bone-derived growth factors osteoinductive factor and transforming growth factor-beta on isolated osteoclasts. (1693566)
1990
50
Spinal arachnoiditis in Jamaica. (595584)
1977

Variations for Zellweger Syndrome

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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
1
Show member pathways
9.1ABCD3, 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 membraneGO:00057789.4ABCD3, PEX16, PEX3
2peroxisomeGO:00057776.9PEX1, PEX10, PEX12, PEX13, PEX19, PEX3

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

idNameGO IDScoreTop Affiliating Genes
1protein import into peroxisome matrixGO:00165589.7PEX16, PEX5
2protein targeting to peroxisomeGO:00066259.3PEX12, PEX16, PEX5

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.2PEX10, PEX12, PEX5

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