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ZSD
MCID: ZLL011
MIFTS: 45

Zellweger Spectrum Disorder (ZSD)

Categories: Eye diseases, Fetal diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Zellweger Spectrum Disorder

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MalaCards integrated aliases for Zellweger Spectrum Disorder:

Name: Zellweger Spectrum Disorder 25 43 29 6
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 43 29 6
Zellweger Syndrome Spectrum 20 43 6
Zellweger Spectrum 20 43 71
Pbd, Zss 20 43
Pbd-Zsd 20 43
Zsd 25 43
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum 20
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 20
Peroxisome Biogenesis Disorder Spectrum 20
Pbd-Zellweger Spectrum Disorder 20
Peroxisome Biogenesis Disorder 20
Zellweger Spectrum Disorders 20
Cerebrohepatorenal Syndrome 43
Zellweger Syndrome 71
Pbd-Zss 20

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Nephrological diseases
See all MalaCards categories (disease lists)


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UMLS 71 C0043459 C3658299
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Summaries for Zellweger Spectrum Disorder

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MedlinePlus Genetics : 43 Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild.Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanelles) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life.People with NALD or infantile Refsum disease, which are at the less-severe end of the spectrum, have more variable features than those with Zellweger syndrome and usually do not develop signs and symptoms of the disease until late infancy or early childhood. They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. Children with these less-severe conditions often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with NALD survive into childhood, and those with infantile Refsum disease may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder.

MalaCards based summary : Zellweger Spectrum Disorder, also known as peroxisome biogenesis disorders, zellweger syndrome spectrum, is related to heimler syndrome 1 and rhizomelic chondrodysplasia punctata, type 1, and has symptoms including seizures An important gene associated with Zellweger Spectrum Disorder is PEX6 (Peroxisomal Biogenesis Factor 6), and among its related pathways/superpathways is Peroxisome. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, spinal cord and eye.

GARD : 20 Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.

GeneReviews: NBK1448
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Related Diseases for Zellweger Spectrum Disorder

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Diseases in the Zellweger Syndrome family:

Zellweger Spectrum Disorder

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 heimler syndrome 1 32.5 PEX6 PEX1 GATAD1
2 rhizomelic chondrodysplasia punctata, type 1 32.3 PEX6 PEX5 PEX13
3 fundus dystrophy 29.5 PEX6 PEX26 PEX12 PEX1 GATAD1
4 sensorineural hearing loss 29.5 PEX6 PEX5 PEX26 PEX12 PEX10 PEX1
5 peroxisome biogenesis disorder 1a 28.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 adrenoleukodystrophy 27.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
7 chondrodysplasia punctata syndrome 27.3 PEX6 PEX5 PEX26 PEX2 PEX19 PEX16
8 leukodystrophy 27.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
9 refsum disease, classic 26.7 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
10 peroxisomal biogenesis disorder 26.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
11 neonatal adrenoleukodystrophy 26.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 zellweger syndrome 26.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
13 peroxisome biogenesis disorder 1b 26.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
14 peroxisomal disease 26.3 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
15 rhizomelic chondrodysplasia punctata 26.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
16 peroxisome biogenesis disorder 2a 11.9
17 peroxisome biogenesis disorder 4a 11.9
18 peroxisome biogenesis disorder 11a 11.9
19 peroxisome biogenesis disorder 6a 11.9
20 peroxisome biogenesis disorder 9b 11.9
21 peroxisome biogenesis disorder 10a 11.9
22 peroxisome biogenesis disorder 12a 11.9
23 peroxisome biogenesis disorder 14b 11.9
24 peroxisome biogenesis disorder 7a 11.9
25 peroxisome biogenesis disorder 8a 11.9
26 peroxisome biogenesis disorder 13a 11.9
27 peroxisome biogenesis disorder 3a 11.9
28 peroxisome biogenesis disorder 6b 11.8
29 peroxisome biogenesis disorder 8b 11.8
30 peroxisome biogenesis disorder 2b 11.8
31 peroxisome biogenesis disorder 7b 11.8
32 peroxisome biogenesis disorder 11b 11.8
33 peroxisome biogenesis disorder 3b 11.8
34 heimler syndrome 2 11.7
35 polymicrogyria 11.1
36 d-bifunctional protein deficiency 11.0
37 peroxisomal acyl-coa oxidase deficiency 11.0
38 adrenomyeloneuropathy 10.3
39 cataract 10.3
40 alacrima, achalasia, and mental retardation syndrome 10.2
41 polyneuropathy 10.2
42 refsum disease, infantile form 10.2
43 hypotonia 10.2
44 peripheral nervous system disease 10.1
45 neuropathy 10.1
46 autosomal recessive disease 10.1
47 cholestasis 10.1
48 pathologic nystagmus 10.1
49 bone mineral density quantitative trait locus 3 10.1
50 hepatorenal syndrome 10.1

Graphical network of the top 20 diseases related to Zellweger Spectrum Disorder:



Diseases related to Zellweger Spectrum Disorder
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Symptoms & Phenotypes for Zellweger Spectrum Disorder

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UMLS symptoms related to Zellweger Spectrum Disorder:


seizures
Sources

Drugs & Therapeutics for Zellweger Spectrum Disorder

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7, 6915-17-9 248
2 Gastrointestinal Agents Phase 3
3 Hypolipidemic Agents Phase 3
4 Lipid Regulating Agents Phase 3
5 Antimetabolites Phase 3
6 Bile Acids and Salts Phase 3
7 Cholic Acids Phase 3
8 Liver Extracts Phase 3
9
Hydroxychloroquine Approved Phase 2 118-42-3 3652
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
rituximab Approved Phase 2 174722-31-7 10201696
17
Tocopherol Approved, Investigational Phase 2 1406-66-2
18
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
19 Tocotrienol Investigational Phase 2 6829-55-6
20 Anti-Infective Agents Phase 2
21 Antirheumatic Agents Phase 2
22 Antiparasitic Agents Phase 2
23 Antiprotozoal Agents Phase 2
24 Antimalarials Phase 2
25 Alpha-lipoic Acid Phase 2
26 Vitamins Phase 2
27 Antilymphocyte Serum Phase 2
28 Tocotrienols Phase 2
29 Thioctic Acid Phase 2
30 N-monoacetylcystine Phase 2
31 Tocopherols Phase 2
32
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
33
chenodeoxycholic acid Approved 474-25-9 10133
34 Cathartics
35 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
2 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
3 Hydroxychloroquine Administration for Reduction of Pexophagy Completed NCT03856866 Phase 2 Hydroxychloroquine;Placebo
4 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
5 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
6 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
7 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Zellweger Spectrum Disorder

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Genetic Tests for Zellweger Spectrum Disorder

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Genetic tests related to Zellweger Spectrum Disorder:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 29 PEX12 PEX16 PEX6
2 Zellweger Spectrum Disorder 29
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Anatomical Context for Zellweger Spectrum Disorder

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MalaCards organs/tissues related to Zellweger Spectrum Disorder:

40
Liver, Spinal Cord, Eye
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Publications for Zellweger Spectrum Disorder

About this section

Articles related to Zellweger Spectrum Disorder:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Genetics and molecular basis of human peroxisome biogenesis disorders. 25 6 61
22871920 2012
2
Peroxisome biogenesis disorders. 61 6
17055079 2006
3
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder. 25 61
31150129 2019
4
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder. 25 61
30519152 2018
5
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 61 25
29220678 2017
6
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 61 25
27302843 2016
7
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines. 25 61
25724074 2015
8
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 25 61
25079577 2014
9
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 61 25
21031596 2011
10
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 61 25
20647552 2010
11
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 6
12402331 2002
12
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
13
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. 6
10408779 1999
14
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
15
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
16
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 6
8940266 1996
17
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 6
8670792 1996
18
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
19
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. 25
27799409 2017
20
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. 25
28129423 2017
21
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 25
27872819 2016
22
Newborn Screening for X-Linked Adrenoleukodystrophy. 25
31467997 2016
23
Cholic acid therapy in Zellweger spectrum disorders. 25
27469511 2016
24
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 25
27633571 2016
25
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 25
27230853 2016
26
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 25
26604000 2016
27
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 25
26992161 2016
28
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. 25
26825290 2016
29
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. 25
26750748 2016
30
Low bone mineral density is a common feature of Zellweger spectrum disorders. 25
26643206 2016
31
Zellweger spectrum disorders: clinical overview and management approach. 25
26627182 2015
32
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 25
26387595 2015
33
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25
25655951 2015
34
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 25
25179809 2014
35
Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. 25
24553428 2014
36
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 25
23105016 2013
37
Medical-dental findings and management of a child with infantile Refsum disease: a case report. 25
22591434 2012
38
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 25
22581968 2012
39
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. 25
21862673 2011
40
Infantile refsum disease with enamel defects: a case report. 25
21703082 2011
41
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 25
21392394 2011
42
Mutations in PEX10 are a cause of autosomal recessive ataxia. 25
20695019 2010
43
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. 25
20673864 2010
44
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. 25
19423374 2009
45
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 25
19127411 2009
46
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. 25
18712838 2009
47
A lethal defect of mitochondrial and peroxisomal fission. 25
17460227 2007
48
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. 25
16828324 2006
49
High incidence of hyperoxaluria in generalized peroxisomal disorders. 25
16621644 2006
50
Diffusion-weighted MR imaging in leukodystrophies. 25
16021451 2005
Sources

Variations for Zellweger Spectrum Disorder

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ClinVar genetic disease variations for Zellweger Spectrum Disorder:

6 (show top 50) (show all 368)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX6 NM_000287.4(PEX6):c.2667-2A>C SNV Pathogenic 575426 rs267608249 6:42932669-42932669 6:42964931-42964931
2 PEX6 NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) SNV Pathogenic 576022 rs781475201 6:42934540-42934540 6:42966802-42966802
3 PEX6 NC_000006.12:g.(?_42974865)_(42975048_?)del Deletion Pathogenic 830981 6:42942603-42942786
4 PEX6 NC_000006.12:g.(?_42968280)_(42979253_?)del Deletion Pathogenic 833404 6:42936018-42946991
5 PEX6 NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs) Microsatellite Pathogenic 837284 6:42946651-42946652 6:42978913-42978914
6 PEX26 NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) SNV Pathogenic 928563 22:18566405-18566405 22:18083639-18083639
7 PEX1 NM_000466.3(PEX1):c.2071+1G>T SNV Pathogenic 928942 7:92134045-92134045 7:92504731-92504731
8 PEX6 NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) SNV Pathogenic 643229 rs201306028 6:42934283-42934283 6:42966545-42966545
9 PEX6 NM_000287.4(PEX6):c.2439del (p.Arg814fs) Deletion Pathogenic 653703 rs1554126955 6:42933451-42933451 6:42965713-42965713
10 PEX6 NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) SNV Pathogenic 940761 6:42941817-42941817 6:42974079-42974079
11 PEX6 NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) SNV Pathogenic 942518 6:42934361-42934361 6:42966623-42966623
12 PEX6 NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) SNV Pathogenic 954112 6:42941797-42941797 6:42974059-42974059
13 PEX6 NM_000287.4(PEX6):c.1688+1G>T SNV Pathogenic 962408 6:42936027-42936027 6:42968289-42968289
14 PEX6 NM_000287.4(PEX6):c.656del (p.Gln219fs) Deletion Pathogenic 958409 6:42946233-42946233 6:42978495-42978495
15 PEX6 NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) Indel Pathogenic 598162 rs62653602 6:42933473-42933492 6:42965735-42965754
16 PEX6 NM_000287.4(PEX6):c.685_686AG[4] (p.Ser232fs) Microsatellite Pathogenic 92790 rs398123305 6:42946198-42946199 6:42978460-42978461
17 PEX6 PEX6, IVSAS, G-A, -1, 8-BP DEL Deletion Pathogenic 8119
18 PEX6 PEX6, 20-BP DEL/1-BP INS Indel Pathogenic 8120
19 PEX6 PEX6, 1-BP INS, NT511 Insertion Pathogenic 8121
20 PEX6 NM_000287.4(PEX6):c.1130+1G>A SNV Pathogenic 8122 rs267608213 6:42941740-42941740 6:42974002-42974002
21 PEX6 NM_000287.4(PEX6):c.1688+1G>A SNV Pathogenic 8123 rs112298166 6:42936027-42936027 6:42968289-42968289
22 PEX6 NM_000287.4(PEX6):c.1301del (p.Ser434fs) Deletion Pathogenic 8124 rs62641231 6:42937472-42937472 6:42969734-42969734
23 PEX6 NM_000287.4(PEX6):c.510_511del (p.Asp172fs) Deletion Pathogenic 802216 rs61753211 6:42946378-42946379 6:42978640-42978641
24 PEX6 NM_000287.4(PEX6):c.882+1G>A SNV Pathogenic 973865 6:42946006-42946006 6:42978268-42978268
25 PEX1 PEX1, 1-BP DEL, 2916A Deletion Pathogenic 7520
26 PEX6 NM_000287.4(PEX6):c.1947del (p.Ile650fs) Deletion Pathogenic 495796 rs267608227 6:42934534-42934534 6:42966796-42966796
27 PEX12 NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) Microsatellite Pathogenic 92776 rs398123301 17:33902992-33902993 17:35575973-35575974
28 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) Deletion Pathogenic 287499 rs764771123 8:77896070-77896076 8:76983834-76983840
29 GATAD1 NM_000466.3(PEX1):c.2916del (p.Gly973fs) Deletion Pathogenic 189043 rs61750426 7:92123811-92123811 7:92494497-92494497
30 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 8:77896060-77896060 8:76983824-76983824
31 PEX12 NM_000286.3(PEX12):c.126+1G>T SNV Pathogenic 371718 rs144259891 17:33904914-33904914 17:35577895-35577895
32 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) Deletion Pathogenic 224321 rs267608216 6:42937452-42937459 6:42969714-42969721
33 PEX6 NM_000287.4(PEX6):c.1962-1G>A SNV Pathogenic 550358 rs267608229 6:42934396-42934396 6:42966658-42966658
34 PEX6 NM_000287.4(PEX6):c.802_815del (p.Asp268fs) Deletion Pathogenic 555443 rs63749004 6:42946074-42946087 6:42978336-42978349
35 PEX6 NM_000287.4(PEX6):c.517del (p.Ser173fs) Deletion Pathogenic 557701 rs61753212 6:42946372-42946372 6:42978634-42978634
36 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) SNV Pathogenic 194165 rs267608241 6:42933450-42933450 6:42965712-42965712
37 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) SNV Pathogenic 632939 rs61750417 7:92131252-92131252 7:92501938-92501938
38 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) Duplication Pathogenic 93102 rs398123408 7:92134156-92134157 7:92504842-92504843
39 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) SNV Pathogenic 549898 rs61752124 8:77896042-77896042 8:76983806-76983806
40 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 22:18562701-18562701 22:18079935-18079935
41 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 22:18561170-18561171 22:18078404-18078405
42 PEX6 NM_000287.4(PEX6):c.2362G>A (p.Val788Met) SNV Pathogenic 556244 rs267608240 6:42933782-42933782 6:42966044-42966044
43 PEX10 NM_153818.1(PEX10):c.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 1:2338230-2338231 1:2406791-2406792
44 PEX12 NM_000286.3(PEX12):c.268_271del (p.Lys90fs) Deletion Pathogenic 501646 rs61752100 17:33904466-33904469 17:35577447-35577450
45 PEX12 NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) Duplication Pathogenic 371737 rs61752107 17:33903147-33903148 17:35576128-35576129
46 PEX12 NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) SNV Pathogenic 555548 rs61752106 17:33904112-33904112 17:35577093-35577093
47 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs) Deletion Pathogenic 139588 rs61752122 8:77896132-77896136 8:76983896-76983900
48 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) Deletion Pathogenic 224321 rs267608216 6:42937452-42937459 6:42969714-42969721
49 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) SNV Pathogenic 194165 rs267608241 6:42933450-42933450 6:42965712-42965712
50 PEX6 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) SNV Pathogenic 198709 rs34324426 6:42935188-42935188 6:42967450-42967450
Sources

Expression for Zellweger Spectrum Disorder

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Search GEO for disease gene expression data for Zellweger Spectrum Disorder.
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Pathways for Zellweger Spectrum Disorder

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Pathways related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peroxisome 36
11.35 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
Sources

GO Terms for Zellweger Spectrum Disorder

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Cellular components related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.13 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
2 integral component of membrane GO:0016021 10.1 PEX3 PEX26 PEX2 PEX19 PEX16 PEX14
3 protein-containing complex GO:0032991 9.77 PEX5 PEX3 PEX19 PEX14 PEX11B
4 peroxisomal membrane GO:0005778 9.77 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
5 integral component of peroxisomal membrane GO:0005779 9.76 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
6 peroxisome GO:0005777 9.44 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
7 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12

Biological processes related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 9.91 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 protein import into peroxisome matrix GO:0016558 9.81 PEX6 PEX5 PEX26 PEX2 PEX16 PEX14
4 peroxisome organization GO:0007031 9.7 PEX6 PEX5 PEX3 PEX2 PEX19 PEX16
5 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
6 protein import into peroxisome matrix, docking GO:0016560 9.58 PEX5 PEX14 PEX13
7 fatty acid beta-oxidation GO:0006635 9.54 PEX5 PEX2
8 peroxisome membrane biogenesis GO:0016557 9.54 PEX3 PEX19 PEX16
9 very long-chain fatty acid metabolic process GO:0000038 9.52 PEX5 PEX2
10 protein import into peroxisome matrix, translocation GO:0016561 9.5 PEX6 PEX5 PEX14
11 peroxisome fission GO:0016559 9.49 PEX19 PEX11B
12 cerebral cortex cell migration GO:0021795 9.48 PEX5 PEX13
13 microtubule-based peroxisome localization GO:0060152 9.46 PEX13 PEX1
14 protein targeting to peroxisome GO:0006625 9.36 PEX6 PEX5 PEX26 PEX2 PEX19 PEX16

Molecular functions related to Zellweger Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.33 PEX5 PEX19 PEX14
2 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
3 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19
Sources

Sources for Zellweger Spectrum Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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