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ZSD
MCID: ZLL011
MIFTS: 45

Zellweger Spectrum Disorder (ZSD)

Categories: Eye diseases, Fetal diseases, Genetic 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 24 25 29
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 25 29 6
Zellweger Syndrome Spectrum 52 25 6
Zellweger Spectrum 52 25 71
Pbd, Zss 52 25
Pbd-Zsd 52 25
Zsd 24 25
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum 52
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 52
Peroxisome Biogenesis Disorder Spectrum 52
Pbd-Zellweger Spectrum Disorder 52
Peroxisome Biogenesis Disorder 52
Zellweger Spectrum Disorders 52
Cerebrohepatorenal Syndrome 25
Zellweger Syndrome 71
Pbd-Zss 52

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic 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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Genetics Home Reference : 25 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 d-bifunctional protein deficiency and deafness enamel hypoplasia nail defects, 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 Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotype is liver/biliary system.

NIH Rare Diseases : 52 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 134)
# Related Disease Score Top Affiliating Genes
1 d-bifunctional protein deficiency 31.8 PEX6 PEX26 PEX10
2 deafness enamel hypoplasia nail defects 30.8 PEX6 PEX1
3 sensorineural hearing loss 29.8 PEX6 PEX26 PEX12 PEX10
4 rhizomelic chondrodysplasia punctata, type 5 29.6 PEX5 PEX14
5 rhizomelic chondrodysplasia punctata, type 1 29.5 PEX6 PEX5 PEX13
6 zellweger syndrome 27.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
7 refsum disease, classic 26.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX16
8 chondrodysplasia punctata syndrome 26.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX16
9 adrenoleukodystrophy 25.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
10 leukodystrophy 25.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
11 rhizomelic chondrodysplasia punctata 25.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 peroxisome biogenesis disorder 1a 25.3 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
13 neonatal adrenoleukodystrophy 25.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
14 peroxisomal biogenesis disorder 25.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
15 peroxisome biogenesis disorder 1b 25.0 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
16 peroxisomal disease 24.7 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
17 rhizomelic chondrodysplasia punctata, type 3 11.7
18 rhizomelic chondrodysplasia punctata, type 2 11.7
19 peroxisomal acyl-coa oxidase deficiency 11.3
20 polymicrogyria 11.2
21 adrenomyeloneuropathy 10.3
22 leber congenital amaurosis 1 10.3
23 leber congenital amaurosis 2 10.3
24 leber congenital amaurosis 3 10.3
25 leber congenital amaurosis 4 10.3
26 leber congenital amaurosis 5 10.3
27 retinitis pigmentosa 7 10.3
28 leber congenital amaurosis 9 10.3
29 leber congenital amaurosis 12 10.3
30 leber congenital amaurosis 10 10.3
31 leber congenital amaurosis 13 10.3
32 leber congenital amaurosis 14 10.3
33 leber congenital amaurosis 6 10.3
34 leber congenital amaurosis 7 10.3
35 leber congenital amaurosis 8 10.3
36 leber congenital amaurosis 11 10.3
37 leber congenital amaurosis 15 10.3
38 leber congenital amaurosis 16 10.3
39 leber congenital amaurosis 17 10.3
40 leber congenital amaurosis 19 10.3
41 osteoporosis 10.2
42 bone mineral density quantitative trait locus 8 10.2
43 bone mineral density quantitative trait locus 15 10.2
44 bone mineral density quantitative trait locus 3 10.2
45 polyneuropathy 10.2
46 refsum disease, infantile form 10.2
47 hypotonia 10.2
48 hepatorenal syndrome 10.2
49 retinitis pigmentosa 62 10.1 PEX2 PEX1
50 aceruloplasminemia 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

MGI Mouse Phenotypes related to Zellweger Spectrum Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 PEX1 PEX11B PEX13 PEX2 PEX5
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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 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Cholic Acids Phase 3
3 Gastrointestinal Agents Phase 3
4 Bile Acids and Salts Phase 3
5 Hypolipidemic Agents Phase 3
6 Lipid Regulating Agents Phase 3
7 Liver Extracts Phase 3
8
Hydroxychloroquine Approved Phase 2 118-42-3 3652
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Anti-Infective Agents Phase 2
20 Antimalarials Phase 2
21 Antirheumatic Agents Phase 2
22 Antiparasitic Agents Phase 2
23 Antiprotozoal Agents Phase 2
24 Antimetabolites Phase 2
25 Alkylating Agents Phase 2
26 Immunologic Factors Phase 2
27 Alpha-lipoic Acid Phase 2
28 Vitamins Phase 2
29 N-monoacetylcystine Phase 2
30 Antilymphocyte Serum Phase 2
31 Tocotrienols Phase 2
32 Tocopherols Phase 2
33 Immunosuppressive Agents Phase 2
34 Thioctic Acid Phase 2
35
chenodeoxycholic acid Approved 474-25-9 10133
36
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
37 Cathartics
38 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." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 Completed NCT00007020 Phase 3 Cholic Acids
3 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting 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 A Prospective, Observational, Non-Interventional, Post-Marketing, Patient Registry to Collect Data on Routine Clinical Care in Patients Treated With Cholbam®/Kolbam® (Cholic Acid) Recruiting NCT03115086
7 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
8 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, Bone, Brain, Spinal Cord, Heart, Kidney, Eye
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Publications for Zellweger Spectrum Disorder

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Articles related to Zellweger Spectrum Disorder:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Genetics and molecular basis of human peroxisome biogenesis disorders. 6 61
22871920 2012
2
Peroxisome biogenesis disorders. 61 6
17055079 2006
3
Zellweger Spectrum Disorder 6 61
20301621 2003
4
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 61 24
29220678 2017
5
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 61 24
27302843 2016
6
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 24 61
25079577 2014
7
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 61 24
21031596 2011
8
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 24 61
20647552 2010
9
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 24 61
15542397 2004
10
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
11
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
12
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
13
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. 24
27799409 2017
14
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. 24
27337030 2017
15
Newborn Screening for X-Linked Adrenoleukodystrophy. 24
31467997 2016
16
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 24
27872819 2016
17
Cholic acid therapy in Zellweger spectrum disorders. 24
27469511 2016
18
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 24
27633571 2016
19
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 24
27230853 2016
20
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 24
26604000 2016
21
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 24
26992161 2016
22
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. 24
26825290 2016
23
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. 24
26750748 2016
24
Low bone mineral density is a common feature of Zellweger spectrum disorders. 24
26643206 2016
25
Zellweger spectrum disorders: clinical overview and management approach. 24
26627182 2015
26
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 24
26387595 2015
27
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 24
25179809 2014
28
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 24
23105016 2013
29
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 24
22581968 2012
30
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. 24
21862673 2011
31
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 24
21392394 2011
32
Mutations in PEX10 are a cause of autosomal recessive ataxia. 24
20695019 2010
33
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 24
19127411 2009
34
A lethal defect of mitochondrial and peroxisomal fission. 24
17460227 2007
35
Diffusion-weighted MR imaging in leukodystrophies. 24
16021451 2005
36
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection. 24
15635073 2005
37
PEX1 deficiency presenting as Leber congenital amaurosis. 24
15301838 2004
38
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 24
15184617 2004
39
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 24
15098231 2004
40
Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder. 24
14736770 2004
41
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 24
12851857 2003
42
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 24
12794690 2003
43
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver. 24
14713221 2003
44
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 24
11992258 2002
45
A novel pex2 mutant: catalase-deficient but temperature-sensitive PTS1 and PTS2 import. 24
12054689 2002
46
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 24
11873320 2002
47
Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene. 24
11606046 2001
48
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. 24
11004248 2000
49
The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import. 24
11003648 2000
50
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. 24
10968777 2000
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Variations for Zellweger Spectrum Disorder

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ClinVar genetic disease variations for Zellweger Spectrum Disorder:

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX26 NM_017929.6(PEX26):c.292C>T (p.Arg98Trp)SNV Pathogenic 2152 rs62641228 22:18562701-18562701 22:18079935-18079935
2 PEX26 NM_017929.6(PEX26):c.34dup (p.Leu12fs)duplication Pathogenic 2154 rs61752129 22:18561176-18561176 22:18078410-18078410
3 PEX10 NM_002617.3(PEX10):c.704dup (p.Leu236fs)duplication Pathogenic 6774 rs61750435 1:2338231-2338231 1:2406792-2406792
4 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562
5 PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs)duplication Pathogenic 7519 rs61750415 7:92132484-92132484 7:92503170-92503170
6 PEX1 PEX1, 1-BP DEL, 2916Adeletion Pathogenic 7520
7 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)SNV Pathogenic 13704 rs61752123 8:77896060-77896060 8:76983824-76983824
8 PEX12 NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs)short repeat Pathogenic 92776 rs398123301 17:33902992-33902993 17:35575973-35575974
9 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs)deletion Pathogenic 139588 rs61752122 8:77896132-77896136 8:76983896-76983900
10 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)deletion Pathogenic 224321 rs267608216 6:42937452-42937459 6:42969714-42969721
11 PEX10 NM_002617.3(PEX10):c.814_815del (p.Leu272fs)deletion Pathogenic 296273 rs61752093 1:2338020-2338021 1:2406581-2406582
12 PEX12 NM_000286.3(PEX12):c.126+1G>TSNV Pathogenic 371718 rs144259891 17:33904914-33904914 17:35577895-35577895
13 PEX6 NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)SNV Pathogenic 492968 rs61753230 6:42933000-42933000 6:42965262-42965262
14 PEX6 NM_000287.4(PEX6):c.1947del (p.Ile650fs)deletion Pathogenic 495796 rs267608227 6:42934534-42934534 6:42966796-42966796
15 PEX6 NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)SNV Pathogenic 576022 6:42934540-42934540 6:42966802-42966802
16 PEX6 NM_000287.4(PEX6):c.2667-2A>CSNV Pathogenic 575426 6:42932669-42932669 6:42964931-42964931
17 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)SNV Pathogenic 632939 rs61750417 7:92131252-92131252 7:92501938-92501938
18 PEX6 NM_000287.4(PEX6):c.2439del (p.Arg814fs)deletion Pathogenic 653703 6:42933451-42933451 6:42965717-42965717
19 PEX6 NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)SNV Pathogenic 643229 6:42934283-42934283 6:42966545-42966545
20 PEX6 NM_000287.4(PEX6):c.2362G>A (p.Val788Met)SNV Pathogenic/Likely pathogenic 556244 rs267608240 6:42933782-42933782 6:42966044-42966044
21 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)SNV Pathogenic/Likely pathogenic 549898 rs61752124 8:77896042-77896042 8:76983806-76983806
22 PEX12 NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)SNV Pathogenic/Likely pathogenic 555548 rs61752106 17:33904112-33904112 17:35577093-35577093
23 PEX1 NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)SNV Pathogenic/Likely pathogenic 495880 rs61750428 7:92123645-92123645 7:92494331-92494331
24 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)SNV Pathogenic/Likely pathogenic 371782 rs149806989 7:92147282-92147282 7:92517968-92517968
25 PEX12 NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)duplication Pathogenic/Likely pathogenic 371737 rs61752107 17:33903148-33903151 17:35576129-35576132
26 PEX12 NM_000286.3(PEX12):c.268_271del (p.Lys90fs)deletion Pathogenic/Likely pathogenic 501646 rs61752100 17:33904466-33904469 17:35577447-35577450
27 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp)duplication Pathogenic/Likely pathogenic 93102 rs398123408 7:92134157-92134165 7:92504843-92504851
28 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)deletion Pathogenic/Likely pathogenic 287499 rs764771123 8:77896070-77896076 8:76983834-76983840
29 PEX1 NM_000466.3(PEX1):c.2916del (p.Gly973fs)deletion Pathogenic/Likely pathogenic 189043 rs61750426 7:92123811-92123811 7:92494497-92494497
30 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)SNV Pathogenic/Likely pathogenic 194165 rs267608241 6:42933450-42933450 6:42965712-42965712
31 PEX6 NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)SNV Likely pathogenic 495795 rs1554127491 6:42937413-42937413 6:42969675-42969675
32 PEX6 NM_000287.4(PEX6):c.1233+1G>ASNV Likely pathogenic 495794 rs763459576 6:42937622-42937622 6:42969884-42969884
33 PEX26 NM_017929.6(PEX26):c.185G>A (p.Trp62Ter)SNV Likely pathogenic 496444 rs1556586479 22:18561327-18561327 22:18078561-18078561
34 PEX6 NM_000287.4(PEX6):c.510dup (p.Gly171fs)duplication Likely pathogenic 551023 rs1491384052 6:42946378-42946378 6:42978641-42978641
35 PEX6 NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)insertion Likely pathogenic 619217 rs1561830903 6:42946482-42946483 6:42978744-42978745
36 PEX6 NC_000006.12:g.42966524C>Tundetermined variant Likely pathogenic 667387
37 PEX12 NM_000286.3(PEX12):c.445_454del (p.Ser149fs)deletion Likely pathogenic 633349 rs1567730901 17:33904283-33904292 17:35577266-35577275
38 PEX6 NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs)short repeat Likely pathogenic 632941 rs755716911 6:42933525-42933526 6:42965787-42965788
39 PEX1 NM_000466.3(PEX1):c.1900+2T>CSNV Likely pathogenic 632940 rs1562857198 7:92135560-92135560 7:92506246-92506246
40 PEX12 NM_000286.3(PEX12):c.681-2A>CSNV Conflicting interpretations of pathogenicity 497605 rs187526749 17:33903202-33903202 17:35576183-35576183
41 PEX6 NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)SNV Conflicting interpretations of pathogenicity 167464 rs61732159 6:42936039-42936039 6:42968301-42968301
42 PEX6 NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)SNV Conflicting interpretations of pathogenicity 285539 rs61753220 6:42946036-42946036 6:42978298-42978298
43 PEX6 NM_000287.4(PEX6):c.2095-21_2095-10deldeletion Conflicting interpretations of pathogenicity 286981 rs772869377 6:42934195-42934206 6:42966457-42966468
44 PEX12 NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del)short repeat Uncertain significance 548532 rs61752098 17:33904531-33904533 17:35577512-35577514
45 PEX6 NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)SNV Uncertain significance 657186 6:42932150-42932150 6:42964412-42964412
46 PEX6 NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)SNV Uncertain significance 661400 6:42946687-42946687 6:42978949-42978949
47 PEX6 NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)SNV Uncertain significance 579632 6:42937463-42937463 6:42969725-42969725
48 PEX6 NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)SNV Uncertain significance 573090 rs1561823098 6:42936682-42936682 6:42968944-42968944
49 PEX6 NM_000287.4(PEX6):c.1234-8_1234-7dupduplication Benign/Likely benign 356797 rs200121485 6:42937545-42937546 6:42969807-42969808
50 PEX16 NM_057174.2(PEX16):c.760G>C (p.Val254Leu)SNV Benign/Likely benign 304788 rs35214605 11:45935689-45935689 11:45914138-45914138
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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
11.36 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
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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 10.06 PEX3 PEX26 PEX2 PEX16 PEX14 PEX13
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 9.7 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 9.85 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 fatty acid beta-oxidation GO:0006635 9.54 PEX5 PEX2
7 cerebral cortex cell migration GO:0021795 9.52 PEX5 PEX13
8 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX5 PEX14 PEX13
9 peroxisome fission GO:0016559 9.49 PEX19 PEX11B
10 peroxisome membrane biogenesis GO:0016557 9.48 PEX3 PEX16
11 negative regulation of protein homotetramerization GO:1901094 9.46 PEX5 PEX14
12 microtubule-based peroxisome localization GO:0060152 9.43 PEX13 PEX1
13 protein import into peroxisome matrix, translocation GO:0016561 9.4 PEX6 PEX14
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 binding GO:0005515 9.77 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
2 protein-containing complex binding GO:0044877 9.5 PEX6 PEX26 PEX1
3 protein N-terminus binding GO:0047485 9.33 PEX5 PEX19 PEX14
4 ATPase activity, coupled GO:0042623 9.26 PEX6 PEX1
5 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1
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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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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