Zellweger Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ZLL001 MIFTS: 56	Zellweger Syndrome Categories: Rare diseases, Metabolic diseases
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Aliases & Classifications for Zellweger Syndrome

MalaCards integrated aliases for Zellweger Syndrome:

Name: Zellweger Syndrome ¹² ⁷⁶ ⁵³ ⁵⁴ ³⁷ ²⁹ ⁵⁵ ⁶ ⁴⁴ ¹⁵ ⁷³

Cerebrohepatorenal Syndrome ¹² ⁵³

Zellweger Leukodystrophy ⁵³ ⁷³

Peroxisome Biogenesis Disorder ¹²

Congenital Iron Overload ¹²

Zws ⁵³

Chr ⁵³

Zs ⁵³

Characteristics:

HPO:

³²

zellweger syndrome:
Mortality/Aging death in infancy

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:905

ICD10 ³³ E71.510

MeSH ⁴⁴ D015211

NCIt ⁵⁰ C85239

SNOMED-CT ⁶⁸ 88469006

KEGG ³⁷ H01342

SNOMED-CT via HPO ⁶⁹ 204962002 82525005 204878001 more

UMLS ⁷³ C0043459 C2930852

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Summaries for Zellweger Syndrome

NINDS : ⁵⁴ Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form). Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.

MalaCards based summary : Zellweger Syndrome, also known as cerebrohepatorenal syndrome, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 11a, and has symptoms including seizures An important gene associated with Zellweger Syndrome is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisome and Peroxisomal lipid metabolism. The drugs Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and brain, and related phenotypes are multicystic kidney dysplasia and cryptorchidism

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵³ 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.

Wikipedia : ⁷⁶ Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized... more...

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Related Diseases for Zellweger Syndrome

Diseases in the Zellweger Syndrome family:

Zellweger Spectrum Disorder

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

(show top 50) (show all 66)

#	Related Disease	Score	Top Affiliating Genes
1	peroxisome biogenesis disorder 1a	33.7	PEX1 PEX10
2	peroxisome biogenesis disorder 11a	32.4	PEX1 PEX13
3	d-bifunctional protein deficiency	31.9	EHHADH PEX5
4	peroxisome biogenesis disorder 11b	31.9	PEX1 PEX13
5	zellweger spectrum disorder	30.9	PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
6	refsum disease, classic	30.8	GNPAT PEX14 PEX16 PEX5
7	chondrodysplasia punctata syndrome	30.1	GNPAT PEX5
8	peroxisomal disease	28.7	AGPS GNPAT PEX1 PEX2 PEX5
9	rhizomelic chondrodysplasia punctata	28.7	AGPS GNPAT PEX26 PEX5
10	peroxisomal biogenesis disorders	27.9	PEX1 PEX10 PEX12 PEX13 PEX2 PEX3
11	adrenoleukodystrophy	27.3	ABCD3 EHHADH PEX1 PEX10 PEX19 PEX26
12	neonatal adrenoleukodystrophy	26.1	EHHADH PEX1 PEX10 PEX12 PEX13 PEX14
13	peroxisome biogenesis disorder 1b	25.8	ABCD3 GNPAT PEX1 PEX10 PEX12 PEX13
14	peroxisome biogenesis disorder-zellweger syndrome spectrum	12.3
15	peroxisome biogenesis disorder 5a	11.6
16	alpha-methylacetoacetic aciduria	11.3
17	refsum disease, infantile form	11.2
18	peroxisome biogenesis disorder 2a	11.1
19	peroxisome biogenesis disorder 3a	11.1
20	peroxisome biogenesis disorder 4a	11.1
21	peroxisome biogenesis disorder 6a	11.1
22	peroxisome biogenesis disorder 7a	11.1
23	peroxisome biogenesis disorder 8a	11.1
24	peroxisome biogenesis disorder 10a	11.1
25	peroxisome biogenesis disorder 12a	11.1
26	peroxisome biogenesis disorder 13a	11.1
27	peroxisome biogenesis disorder 14b	10.9
28	mental retardation, skeletal dysplasia, and abducens palsy	10.9
29	peroxisome biogenesis disorder 2b	10.8
30	peroxisome biogenesis disorder 3b	10.8
31	peroxisome biogenesis disorder 4b	10.8
32	peroxisome biogenesis disorder 5b	10.8
33	peroxisome biogenesis disorder 6b	10.8
34	peroxisome biogenesis disorder 7b	10.8
35	peroxisome biogenesis disorder 8b	10.8
36	peroxisome biogenesis disorder 9b	10.8
37	deafness enamel hypoplasia nail defects	10.4	PEX1 PEX6
38	mulibrey nanism	10.3	PEX1 PEX5
39	peroxisome disorders	10.2
40	neuronitis	10.1
41	mitochondrial myopathy	10.0
42	myopathy	10.0
43	aging	9.9
44	hepatitis	9.9
45	neuronal migration disorders	9.9
46	hypercarotenemia and vitamin a deficiency, autosomal dominant	9.7
47	hydrops fetalis, nonimmune	9.7
48	band heterotopia	9.7
49	hydrops fetalis, nonimmune, and/or atrial septal defect	9.7
50	keratomalacia	9.7

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

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Symptoms & Phenotypes for Zellweger Syndrome

Human phenotypes related to Zellweger Syndrome:

³² (show top 50) (show all 54)

#	Description	HPO Frequency	HPO Source Accession
1	multicystic kidney dysplasia ³²	frequent (33%)	HP:0000003
2	cryptorchidism ³²	frequent (33%)	HP:0000028
3	hypospadias ³²	frequent (33%)	HP:0000047
4	hydronephrosis ³²	frequent (33%)	HP:0000126
5	abnormality of the tongue ³²	occasional (7.5%)	HP:0000157
6	high palate ³²	frequent (33%)	HP:0000218
7	microcephaly ³²	frequent (33%)	HP:0000252
8	macrocephaly ³²	frequent (33%)	HP:0000256
9	wide anterior fontanel ³²	hallmark (90%)	HP:0000260
10	epicanthus ³²	hallmark (90%)	HP:0000286
11	micrognathia ³²	frequent (33%)	HP:0000347
12	high forehead ³²	hallmark (90%)	HP:0000348
13	sensorineural hearing impairment ³²	frequent (33%)	HP:0000407
14	wide nasal bridge ³²	hallmark (90%)	HP:0000431
15	thickened nuchal skin fold ³²	occasional (7.5%)	HP:0000474
16	glaucoma ³²	occasional (7.5%)	HP:0000501
17	visual impairment ³²	frequent (33%)	HP:0000505
18	cataract ³²	frequent (33%)	HP:0000518
19	abnormal chorioretinal morphology ³²	frequent (33%)	HP:0000532
20	upslanted palpebral fissure ³²	hallmark (90%)	HP:0000582
21	posterior embryotoxon ³²	frequent (33%)	HP:0000627
22	nystagmus ³²	frequent (33%)	HP:0000639
23	optic atrophy ³²	frequent (33%)	HP:0000648
24	jaundice ³²	hallmark (90%)	HP:0000952
25	brushfield spots ³²	occasional (7.5%)	HP:0001088
26	seizures ³²	frequent (33%)	HP:0001250
27	reduced tendon reflexes ³²	hallmark (90%)	HP:0001315
28	hepatic failure ³²	hallmark (90%)	HP:0001399
29	failure to thrive ³²	hallmark (90%)	HP:0001508
30	premature birth ³²	frequent (33%)	HP:0001622
31	ventricular septal defect ³²	occasional (7.5%)	HP:0001629
32	abnormality of coagulation ³²	occasional (7.5%)	HP:0001928
33	pyloric stenosis ³²	frequent (33%)	HP:0002021
34	malabsorption ³²	frequent (33%)	HP:0002024
35	respiratory insufficiency ³²	hallmark (90%)	HP:0002093
36	polymicrogyria ³²	frequent (33%)	HP:0002126
37	hepatomegaly ³²	hallmark (90%)	HP:0002240
38	eeg abnormality ³²	hallmark (90%)	HP:0002353
39	skeletal dysplasia ³²	hallmark (90%)	HP:0002652
40	short stature ³²	hallmark (90%)	HP:0004322
41	depressed nasal bridge ³²	hallmark (90%)	HP:0005280
42	flat occiput ³²	frequent (33%)	HP:0005469
43	severe muscular hypotonia ³²	hallmark (90%)	HP:0006829
44	corneal opacity ³²	hallmark (90%)	HP:0007957
45	very long chain fatty acid accumulation ³²	hallmark (90%)	HP:0008167
46	primary adrenal insufficiency ³²	occasional (7.5%)	HP:0008207
47	external ear malformation ³²	hallmark (90%)	HP:0008572
48	clitoral hypertrophy ³²	frequent (33%)	HP:0008665
49	feeding difficulties in infancy ³²	hallmark (90%)	HP:0008872
50	underdeveloped supraorbital ridges ³²	frequent (33%)	HP:0009891

UMLS symptoms related to Zellweger Syndrome:

seizures

MGI Mouse Phenotypes related to Zellweger Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.9	PEX5 ABCD3 AGPS EHHADH GNPAT PEX1
2	liver/biliary system	MP:0005370	9.43	ABCD3 EHHADH PEX1 PEX13 PEX2 PEX5
3	mortality/aging	MP:0010768	9.32	AGPS EHHADH GNPAT PEX1 PEX10 PEX13

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Drugs & Therapeutics for Zellweger Syndrome

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

(show all 30)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cholic Acids

Phase 3,Not Applicable

Gastrointestinal Agents

Phase 3,Not Applicable

Liver Extracts

Phase 3

Bile Acids and Salts

Phase 3,Not Applicable

rituximab

Approved

Phase 2

174722-31-7

10201696

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Busulfan

Approved, Investigational

Phase 2

55-98-1

2478

Acetylcysteine

Approved, Investigational

Phase 2

616-91-1

12035

Tocopherol

Approved, Investigational, Nutraceutical

Phase 2

1406-66-2

14986

Vitamin E

Approved, Nutraceutical, Vet_approved

Phase 2

59-02-9

14985

Alkylating Agents

Phase 2

Thioctic Acid

Phase 2

Tocopherols

Phase 2

Tocotrienols

Phase 2

N-monoacetylcystine

Phase 2

Vitamins

Phase 2

Immunosuppressive Agents

Phase 2

Antilymphocyte Serum

Phase 2

Antimetabolites

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Tocotrienol

Investigational, Nutraceutical

Phase 2

6829-55-6

Alpha-lipoic Acid

Nutraceutical

Phase 2

chenodeoxycholic acid

Approved

Not Applicable

474-25-9

10133

Ursodeoxycholic acid

Approved, Investigational

Not Applicable

128-13-2

31401

Cathartics

Not Applicable

Laxatives

Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid	Completed	NCT00007020	Phase 3	Cholic Acids
2	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	Recruiting	NCT02171104	Phase 2	IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
3	Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders	Recruiting	NCT03440905
4	Study of Bile Acids in Patients With Peroxisomal Disorders	Terminated	NCT00004442	Not Applicable	chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Zellweger Syndrome

Cochrane evidence based reviews: zellweger syndrome

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Genetic Tests for Zellweger Syndrome

Genetic tests related to Zellweger Syndrome:

#	Genetic test	Affiliating Genes
1	Zellweger Syndrome ²⁹	PEX1

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Anatomical Context for Zellweger Syndrome

MalaCards organs/tissues related to Zellweger Syndrome:

⁴¹

Liver, Kidney, Brain, Eye, Bone, Heart, Skin

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Publications for Zellweger Syndrome

Articles related to Zellweger Syndrome:

(show top 50) (show all 270)

#	Title	Authors	Year
1	Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes. ( 29773809 )	Soliman K....GAortner J.	2018
2	Stippled Chondral Calcifications of the Patella in Zellweger Syndrome. ( 29246349 )	Rife E....Andersson H.C.	2018
3	Scimitar-like ossification of patellae led to diagnosis of Zellweger syndrome in newborn: a case report. ( 29414506 )	Smitthimedhin A....Otero H.J.	2018
4	Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease. ( 29619570 )	Quintas-Neves M....Soares-Fernandes J.P.	2018
5	Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )	Stowe R.C....Agarwal S.	2017
6	Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. ( 28432012 )	Ge M.M....Zhou W.	2017
7	Biochemical and Clinical Profiles of 52 Tunisian Patients Affected by Zellweger Syndrome. ( 28330580 )	Nasrallah F....Kaabachi N.	2017
8	Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. ( 29047053 )	Rydzanicz M....Tylki-SzymaA8ska A.	2017
9	Zellweger syndrome: Depiction of MRI findings in early infancy at 3.0 Tesla. ( 28452594 )	Pfeifer C.M....Martinot C.A.	2017
10	Mitochondrial changes and oxidative stress in a mouse model of Zellweger syndrome neuropathogenesis. ( 27514574 )	Rahim R.S....Crane D.I.	2016
11	Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. ( 27090541 )	Cardoso P....Garcia P.	2016
12	Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients. ( 27488561 )	Rosewich H....GAortner J.	2016
13	Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome. ( 26615381 )	Najafi Sani M....Rezaei N.	2015
14	First Japanese case of Zellweger syndrome with a mutation in PEX14. ( 26627464 )	Komatsuzaki S....Ohura T.	2015
15	Violent death in a rare peroxisomal disease-Zellweger syndrome. ( 26235911 )	Malinescu B....Pelin A.M.	2015
16	Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome. ( 24881576 )	Rahim R.S....Crane D.I.	2014
17	Zellweger syndrome and secondary mitochondrial myopathy. ( 25287621 )	Salpietro V....Kinali M.	2014
18	Revisiting the neuropathogenesis of Zellweger syndrome. ( 24607700 )	Crane D.I.	2014
19	Clinical utility gene card for: Zellweger syndrome spectrum. ( 25407003 )	Rosewich H....GAortner J.	2014
20	Very-long-chain polyunsaturated fatty acids accumulate in phosphatidylcholine of fibroblasts from patients with Zellweger syndrome and acyl-CoA oxidase1 deficiency. ( 24418004 )	Abe Y....Fujiki Y.	2014
21	Fetal echogenic bowel in association with Zellweger syndrome. ( 24888952 )	Aydemir O....Demirel N.	2014
22	Oral manifestations and dental management of a child with Zellweger syndrome. ( 24382371 )	Lertsirivorakul J....Treesuwan P.	2014
23	Child neurology: Zellweger syndrome. ( 23671347 )	Lee P.R....Raymond G.V.	2013
24	A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. ( 23590336 )	Fedick A....Treff N.	2013
25	Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. ( 24030027 )	Kumar S....Marwaha R.K.	2013
26	Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. ( 23933200 )	Miyazaki C....Mizuguchi M.	2013
27	Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. ( 23716570 )	Krause C....GAortner J.	2013
28	Zellweger syndrome: an older child with progressive foot deformity. ( 27625860 )	Westberry D....Pugh L.	2013
29	Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ( 23247051 )	Sun Y....Yi X.	2013
30	Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses. ( 23299724 )	Segers K....Debray F.G.	2013
31	Zellweger syndrome - a lethal peroxisome biogenesis disorder. ( 23327810 )	Rafique M....Mostafa O.A.	2013
32	Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome. ( 24122089 )	Hama K....Yokoyama K.	2013
33	A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. ( 22894767 )	Levesque S....Braverman N.E.	2012
34	Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. ( 22378672 )	Mohebbi M.R....Banagale R.C.	2012
35	Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )	Kanzawa N....Kinoshita T.	2012
36	PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress. ( 20959636 )	MA1ller C.C....Crane D.I.	2011
37	Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. ( 21826223 )	Nakayama M....Matsuno K.	2011
38	Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ( 21031596 )	Ebberink M.S....Waterham H.R.	2011
39	Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. ( 21844578 )	Cho S.Y....Jin D.K.	2011
40	An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. ( 21848015 )	Ezgu F....Dalgic B.	2011
41	Germinal matrix hemorrhage in Zellweger syndrome. ( 20952722 )	Takenouchi T....Raju G.P.	2010
42	The I94-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome. ( 20828389 )	Martinez M....Roesler W.	2010
43	Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ( 19877282 )	Ebberink M.S....Waterham H.R.	2010
44	Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. ( 19013214 )	Saitoh M....Iwamori M.	2009
45	Rational diagnostic strategy for Zellweger syndrome spectrum patients. ( 19142205 )	Krause C....GAortner J.	2009
46	Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails. ( 20033294 )	Dursun A....Waterham H.R.	2009
47	Identification of a novel PEX14 mutation in Zellweger syndrome. ( 21686775 )	Huybrechts S.J....Cassiman D.	2009
48	Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. ( 19449432 )	Al-Dirbashi O.Y....Alkuraya F.S.	2009
49	Corneal ulceration due to vitamin A deficiency in Zellweger syndrome. ( 19541270 )	Colburn J.D....Donahue S.P.	2009
50	Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ( 19105186 )	Yik W.Y....Hacia J.G.	2009

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Genes for Zellweger Syndrome

Genes related to Zellweger Syndrome (2 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	601.59	Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	10480353 9671729 10447258 (more) 9539740 14680974
2	PEX10	Peroxisomal Biogenesis Factor 10	Protein Coding	467.24	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9683594 10862081
3	PEX2	Peroxisomal Biogenesis Factor 2	Protein Coding	79.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	9452066 9765053 9183994 (more) 10891359 11330042 8020947 8507691 9382874
4	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	73.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Gene name Summaries Proteins Variants (show sections)	10447258 8577752 9765053 (more) 8453064 9266848 1301993
5	PEX5	Peroxisomal Biogenesis Factor 5	Protein Coding	68.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11583975 11161709 11939592 (more) 7790377 14680974
6	PEX12	Peroxisomal Biogenesis Factor 12	Protein Coding	67.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9632816 10562279
7	PEX3	Peroxisomal Biogenesis Factor 3	Protein Coding	67.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10958759 10871277 10968777 (more) 10942428
8	PEX16	Peroxisomal Biogenesis Factor 16	Protein Coding	67.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9837814 11890679 14680974
9	PEX19	Peroxisomal Biogenesis Factor 19	Protein Coding	64.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	14680974 10051604
10	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	58.19	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	8940266 9671729 10408779 (more) 11330042 19877282
11	PEX13	Peroxisomal Biogenesis Factor 13	Protein Coding	56.64	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	PEX26	Peroxisomal Biogenesis Factor 26	Protein Coding	56.55	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	PEX14	Peroxisomal Biogenesis Factor 14	Protein Coding	55.11	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
14	EHHADH	Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase	Protein Coding	40.47	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Summaries Proteins (show sections)	8967760 9501266
15	AGPS	Alkylglycerone Phosphate Synthase	Protein Coding	39.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	10683770
16	GNPAT	Glyceronephosphate O-Acyltransferase	Protein Coding	37.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	1679469 8186247

Sources

Variations for Zellweger Syndrome

ClinVar genetic disease variations for Zellweger Syndrome:

⁶

(show top 50) (show all 1255)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh37	Chromosome 7, 92130876: 92130876
2	PEX1	NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)	single nucleotide variant	Pathogenic	rs61750420	GRCh38	Chromosome 7, 92501562: 92501562
3	PEX1	NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro)	single nucleotide variant	Likely pathogenic	rs121434455	GRCh37	Chromosome 7, 92134126: 92134126
4	PEX1	NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro)	single nucleotide variant	Likely pathogenic	rs121434455	GRCh38	Chromosome 7, 92504812: 92504812
5	PEX1	NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del)	deletion	Pathogenic
6	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh37	Chromosome 7, 92132484: 92132484
7	PEX1	NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs)	duplication	Pathogenic	rs61750415	GRCh38	Chromosome 7, 92503170: 92503170
8	PEX1	PEX1, 1-BP DEL, 2916A	deletion	Pathogenic
9	PEX6	NM_000287.3(PEX6): c.2426C> T (p.Ala809Val)	single nucleotide variant	Benign/Likely benign	rs35830695	GRCh37	Chromosome 6, 42933464: 42933464
10	PEX6	NM_000287.3(PEX6): c.2426C> T (p.Ala809Val)	single nucleotide variant	Benign/Likely benign	rs35830695	GRCh38	Chromosome 6, 42965726: 42965726
11	PEX1	NM_000466.2(PEX1): c.627G> A (p.Met209Ile)	single nucleotide variant	Uncertain significance	rs200752969	GRCh37	Chromosome 7, 92147202: 92147202
12	PEX1	NM_000466.2(PEX1): c.627G> A (p.Met209Ile)	single nucleotide variant	Uncertain significance	rs200752969	GRCh38	Chromosome 7, 92517888: 92517888
13	PEX14	NM_004565.2(PEX14): c.1014C> T (p.Asp338=)	single nucleotide variant	Benign/Likely benign	rs2128414	GRCh37	Chromosome 1, 10689924: 10689924
14	PEX14	NM_004565.2(PEX14): c.1014C> T (p.Asp338=)	single nucleotide variant	Benign/Likely benign	rs2128414	GRCh38	Chromosome 1, 10629867: 10629867
15	PEX14	NM_004565.2(PEX14): c.1032G> T (p.Gly344=)	single nucleotide variant	Benign/Likely benign	rs11539794	GRCh37	Chromosome 1, 10689942: 10689942
16	PEX14	NM_004565.2(PEX14): c.1032G> T (p.Gly344=)	single nucleotide variant	Benign/Likely benign	rs11539794	GRCh38	Chromosome 1, 10629885: 10629885
17	PEX26	NM_017929.5(PEX26): c.*10C> T	single nucleotide variant	Benign/Likely benign	rs117472525	GRCh37	Chromosome 22, 18570851: 18570851
18	PEX26	NM_017929.5(PEX26): c.*10C> T	single nucleotide variant	Benign/Likely benign	rs117472525	GRCh38	Chromosome 22, 18088085: 18088085
19	PEX1	NM_000466.2(PEX1): c.2926+2T> C	single nucleotide variant	Likely pathogenic	rs267608180	GRCh38	Chromosome 7, 92494485: 92494485
20	PEX1	NM_000466.2(PEX1): c.2926+2T> C	single nucleotide variant	Likely pathogenic	rs267608180	GRCh37	Chromosome 7, 92123799: 92123799
21	PEX1	NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs)	deletion	Likely pathogenic	rs769836601	GRCh37	Chromosome 7, 92118678: 92118681
22	PEX1	NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs)	deletion	Likely pathogenic	rs769836601	GRCh38	Chromosome 7, 92489364: 92489367
23	PEX1	NM_000466.2(PEX1): c.2926+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs267608179	GRCh37	Chromosome 7, 92123800: 92123800
24	PEX1	NM_000466.2(PEX1): c.2926+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs267608179	GRCh38	Chromosome 7, 92494486: 92494486
25	PEX1	NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs)	deletion	Pathogenic/Likely pathogenic	rs61750426	GRCh37	Chromosome 7, 92123811: 92123811
26	PEX1	NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs)	deletion	Pathogenic/Likely pathogenic	rs61750426	GRCh38	Chromosome 7, 92494497: 92494497
27	PEX1	NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs)	deletion	Likely pathogenic	rs61750423	GRCh37	Chromosome 7, 92126080: 92126080
28	PEX1	NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs)	deletion	Likely pathogenic	rs61750423	GRCh38	Chromosome 7, 92496766: 92496766
29	PEX1	NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs)	deletion	Likely pathogenic	rs61750414	GRCh37	Chromosome 7, 92131228: 92131229
30	PEX1	NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs)	deletion	Likely pathogenic	rs61750414	GRCh38	Chromosome 7, 92501914: 92501915
31	PEX1	NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs61750418	GRCh37	Chromosome 7, 92131237: 92131237
32	PEX1	NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs61750418	GRCh38	Chromosome 7, 92501923: 92501923
33	PEX1	NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs)	deletion	Likely pathogenic	rs786204606	GRCh38	Chromosome 7, 92507080: 92507081
34	PEX1	NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs)	deletion	Likely pathogenic	rs786204606	GRCh37	Chromosome 7, 92136394: 92136395
35	PEX1	NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs)	deletion	Likely pathogenic	rs786204743	GRCh37	Chromosome 7, 92140343: 92140344
36	PEX1	NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs)	deletion	Likely pathogenic	rs786204743	GRCh38	Chromosome 7, 92511029: 92511030
37	PEX1	NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs)	deletion	Likely pathogenic	rs786204638	GRCh37	Chromosome 7, 92146917: 92146918
38	PEX1	NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs)	deletion	Likely pathogenic	rs786204638	GRCh38	Chromosome 7, 92517603: 92517604
39	PEX1	NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs)	deletion	Likely pathogenic	rs749067142	GRCh37	Chromosome 7, 92147046: 92147047
40	PEX1	NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs)	deletion	Likely pathogenic	rs749067142	GRCh38	Chromosome 7, 92517732: 92517733
41	PEX1	NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs)	deletion	Likely pathogenic	rs786204544	GRCh37	Chromosome 7, 92147182: 92147186
42	PEX1	NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs)	deletion	Likely pathogenic	rs786204544	GRCh38	Chromosome 7, 92517868: 92517872
43	PEX1	NM_000466.2(PEX1): c.3G> A (p.Met1Ile)	single nucleotide variant	Likely pathogenic	rs786204704	GRCh37	Chromosome 7, 92157747: 92157747
44	PEX1	NM_000466.2(PEX1): c.3G> A (p.Met1Ile)	single nucleotide variant	Likely pathogenic	rs786204704	GRCh38	Chromosome 7, 92528433: 92528433
45	PEX6	NM_000287.3(PEX6): c.870G> C (p.Glu290Asp)	single nucleotide variant	Uncertain significance	rs150358700	GRCh37	Chromosome 6, 42946019: 42946019
46	PEX6	NM_000287.3(PEX6): c.870G> C (p.Glu290Asp)	single nucleotide variant	Uncertain significance	rs150358700	GRCh38	Chromosome 6, 42978281: 42978281
47	PEX13	NM_002618.3(PEX13): c.-6G> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147461642	GRCh37	Chromosome 2, 61244889: 61244889
48	PEX13	NM_002618.3(PEX13): c.-6G> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147461642	GRCh38	Chromosome 2, 61017754: 61017754
49	PEX6	NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu)	single nucleotide variant	Uncertain significance	rs142899308	GRCh37	Chromosome 6, 42934097: 42934097
50	PEX6	NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu)	single nucleotide variant	Uncertain significance	rs142899308	GRCh38	Chromosome 6, 42966359: 42966359

Copy number variations for Zellweger Syndrome from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	215229	6	73300000	149100000	Copy number	PEX3	Zellweger syndrome

Sources

Expression for Zellweger Syndrome

Search GEO for disease gene expression data for Zellweger Syndrome.

Sources

Pathways for Zellweger Syndrome

Pathways related to Zellweger Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Peroxisome	hsa04146

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

#	Super pathways	Score	Top Affiliating Genes
1	Peroxisome ³⁷	11.45	ABCD3 AGPS EHHADH GNPAT PEX1 PEX10
2	Peroxisomal lipid metabolism ⁶⁶ Show member pathways Alpha-oxidation of phytanate ⁶⁶ Beta-oxidation of pristanoyl-CoA ⁶⁶ Beta-oxidation of very long chain fatty acids ⁶⁶ fatty acid alpha-oxidation ¹	10.86	AGPS EHHADH GNPAT
3	Glycerophospholipid Biosynthetic Pathway ¹ Show member pathways Plasmalogen biosynthesis ⁶⁶	10.52	AGPS GNPAT

Sources

GO Terms for Zellweger Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	peroxisomal membrane	GO:0005778	9.83	ABCD3 AGPS GNPAT PEX1 PEX10 PEX12
2	peroxisomal matrix	GO:0005782	9.62	ABCD3 AGPS EHHADH GNPAT
3	peroxisomal importomer complex	GO:1990429	9.43	PEX12 PEX13 PEX14
4	integral component of peroxisomal membrane	GO:0005779	9.17	PEX10 PEX12 PEX13 PEX16 PEX2 PEX26
5	membrane	GO:0016020	10.24	ABCD3 AGPS GNPAT PEX1 PEX10 PEX12
6	peroxisome	GO:0005777	10.06	ABCD3 AGPS EHHADH GNPAT PEX1 PEX10

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	9.92	PEX1 PEX13 PEX14 PEX26 PEX5
2	peroxisome organization	GO:0007031	9.7	ABCD3 PEX1 PEX10 PEX12 PEX14 PEX16
3	fatty acid beta-oxidation	GO:0006635	9.67	ABCD3 EHHADH PEX2 PEX5
4	protein targeting to peroxisome	GO:0006625	9.65	PEX1 PEX12 PEX16 PEX19 PEX6
5	protein import into peroxisome membrane	GO:0045046	9.55	PEX16 PEX19 PEX26 PEX3 PEX5
6	cellular lipid metabolic process	GO:0044255	9.54	GNPAT PEX5
7	cerebral cortex cell migration	GO:0021795	9.51	PEX13 PEX5
8	protein import into peroxisome matrix, docking	GO:0016560	9.5	PEX13 PEX14 PEX5
9	ether lipid biosynthetic process	GO:0008611	9.49	AGPS GNPAT
10	peroxisome membrane biogenesis	GO:0016557	9.48	PEX16 PEX3
11	microtubule-based peroxisome localization	GO:0060152	9.46	PEX1 PEX13
12	protein import into peroxisome matrix, translocation	GO:0016561	9.43	PEX14 PEX6
13	negative regulation of protein homotetramerization	GO:1901094	9.4	PEX14 PEX5
14	protein import into peroxisome matrix	GO:0016558	9.23	PEX1 PEX10 PEX12 PEX14 PEX16 PEX2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.83	ABCD3 AGPS EHHADH PEX1 PEX10 PEX12
2	protein-containing complex binding	GO:0044877	9.5	PEX1 PEX26 PEX6
3	protein N-terminus binding	GO:0047485	9.33	PEX14 PEX19 PEX5
4	ATPase activity, coupled	GO:0042623	9.26	PEX1 PEX6
5	protein C-terminus binding	GO:0008022	9.02	PEX1 PEX12 PEX16 PEX26 PEX6

Sources

Sources for Zellweger Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia