ZSD
MCID: ZLL011
MIFTS: 47

Zellweger Spectrum Disorder (ZSD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Zellweger Spectrum Disorder

MalaCards integrated aliases for Zellweger Spectrum Disorder:

Name: Zellweger Spectrum Disorder 24 42 5
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 42 5
Zellweger Spectrum 42 71
Zsd 24 42
Cerebrohepatorenal Syndrome 42
Zellweger Syndrome Spectrum 42
Zellweger Syndrome 71
Pbd, Zss 42
Pbd-Zsd 42

Classifications:



External Ids:

UMLS 71 C0043459 C3658299

Summaries for Zellweger Spectrum Disorder

MedlinePlus Genetics: 42 Zellweger spectrum disorder is a condition that affects many parts of the body. Cases of Zellweger spectrum disorder are often categorizes as severe, intermediate, or mild.Individuals with severe Zellweger spectrum disorder usually have signs and symptoms at birth, which worsen over time. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by reduced 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. Reduced myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with severe Zellweger spectrum disorder also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys, and their liver or spleen may be enlarged. 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 can have eye abnormalities, including clouding of the lenses of the eyes (cataracts) or involuntary, side-to-side movements of the eyes (nystagmus). Severe Zellweger spectrum disorder involves distinctive facial features, including a flattened face, broad nasal bridge, high forehead, and widely spaced eyes (hypertelorism). Children with severe Zellweger spectrum disorder typically do not survive beyond the first year of life.People with intermediate or mild Zellweger spectrum disorder have more variable features that progress more slowly than those with the severe form. Affected children usually do not develop signs and symptoms of the disease until late infancy or early childhood. Children with these intermediate and mild forms often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with the intermediate form survive into childhood, and those with the mild form 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.The severe, intermediate, and mild forms of Zellweger spectrum disorder were once thought to be distinct disorders. The severe form was known as Zellweger syndrome, the intermediate form was neonatal adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a single condition when they were found to be part of the same condition spectrum.

MalaCards based summary: Zellweger Spectrum Disorder, also known as peroxisome biogenesis disorders, zellweger syndrome spectrum, is related to d-bifunctional protein deficiency and refsum disease, infantile form, 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 are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Bile Acids and Salts and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, liver and spleen, and related phenotypes are growth/size/body region and mortality/aging

GeneReviews: NBK1448

Related Diseases for Zellweger Spectrum Disorder

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 133)
# Related Disease Score Top Affiliating Genes
1 d-bifunctional protein deficiency 31.4 PEX6 PEX1
2 refsum disease, infantile form 30.5 PEX1 GATAD1
3 peroxisome biogenesis disorder 1a 30.4 PEX6 PEX1 GATAD1
4 heimler syndrome 1 29.9 PEX6 PEX1 GATAD1
5 leukodystrophy 29.7 PEX6 PEX26 PEX13 PEX10
6 peroxisomal biogenesis disorder 29.6 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
7 neonatal adrenoleukodystrophy 29.4 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
8 peroxisome biogenesis disorder 1b 29.3 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
9 zellweger syndrome 29.1 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
10 fundus dystrophy 29.0 PEX6 PEX26 PEX12 PEX1 GATAD1
11 sensorineural hearing loss 28.9 PEX6 PEX26 PEX2 PEX13 PEX12 PEX10
12 adrenoleukodystrophy 28.6 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
13 refsum disease, classic 27.8 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
14 peroxisomal disease 27.6 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
15 chondrodysplasia punctata syndrome 27.6 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
16 rhizomelic chondrodysplasia punctata 27.3 PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
17 peroxisome biogenesis disorder 3b 11.2
18 peroxisome biogenesis disorder 2a 11.2
19 peroxisome biogenesis disorder 3a 11.2
20 peroxisome biogenesis disorder 8a 11.2
21 peroxisome biogenesis disorder 9b 11.2
22 peroxisome biogenesis disorder 10a 11.2
23 peroxisome biogenesis disorder 11a 11.2
24 peroxisome biogenesis disorder 12a 11.2
25 peroxisome biogenesis disorder 13a 11.2
26 peroxisome biogenesis disorder 2b 11.2
27 peroxisome biogenesis disorder 8b 11.1
28 peroxisome biogenesis disorder 14b 11.1
29 polymicrogyria 11.1
30 peroxisomal acyl-coa oxidase deficiency 11.1
31 premature ovarian failure 7 10.3
32 hypotonia 10.3
33 mental retardation, skeletal dysplasia, and abducens palsy 10.2
34 cholestasis 10.2
35 polyneuropathy 10.2
36 retinitis pigmentosa 10.1
37 peroxisome biogenesis disorder 4b 10.1
38 cystic kidney disease 10.1
39 retinitis 10.1
40 liver disease 10.1
41 pathologic nystagmus 10.1
42 spasticity 10.1
43 bone mineral density quantitative trait locus 3 10.1
44 hepatorenal syndrome 10.1
45 peroxisome biogenesis disorder 6b 10.0
46 gastroesophageal reflux 10.0
47 polycystic kidney disease 1 with or without polycystic liver disease 10.0
48 strabismus 10.0
49 varicose veins 10.0
50 cholestasis, progressive familial intrahepatic, 1 10.0

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



Diseases related to Zellweger Spectrum Disorder

Symptoms & Phenotypes for Zellweger Spectrum Disorder

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 growth/size/body region MP:0005378 9.56 PEX1 PEX10 PEX11B PEX13 PEX16 PEX2
2 mortality/aging MP:0010768 9.23 PEX1 PEX10 PEX11B PEX13 PEX16 PEX2

Drugs & Therapeutics for Zellweger Spectrum Disorder

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 3
2 Gastrointestinal Agents Phase 3
3 Cholic Acids Phase 3
4 Liver Extracts Phase 3
5
Hydroxychloroquine Approved Phase 2 118-42-3 3652
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Rituximab Approved Phase 2 174722-31-7
8
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
9
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Tocopherol Approved, Investigational Phase 2 1406-66-2
14
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
15
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
16
Tocotrienol Investigational Phase 2 6829-55-6 9929901
17 Antirheumatic Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antiprotozoal Agents Phase 2
20 Antiparasitic Agents Phase 2
21 Antimalarials Phase 2
22 Vitamins Phase 2
23 Alpha-lipoic Acid Phase 2
24 Antilymphocyte Serum Phase 2
25 N-monoacetylcystine Phase 2
26 Tocotrienols Phase 2
27 Tocopherols Phase 2
28
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
29
Chenodeoxycholic acid Approved 474-25-9 10133
30 Cathartics
31 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism Completed NCT00007020 Phase 3 Cholic Acids
2 Hydroxychloroquine Administration for Reduction of Pexophagy Completed NCT03856866 Phase 2 Hydroxychloroquine;Placebo
3 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)
4 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
5 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
6 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Zellweger Spectrum Disorder

Genetic Tests for Zellweger Spectrum Disorder

Anatomical Context for Zellweger Spectrum Disorder

Organs/tissues related to Zellweger Spectrum Disorder:

MalaCards : Spinal Cord, Liver, Spleen, Eye, Bone, Heart, Brain

Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

(show top 50) (show all 307)
# Title Authors PMID Year
1
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 62 24 5
29220678 2017
2
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 62 24 5
27302843 2016
3
Cholic acid therapy in Zellweger spectrum disorders. 62 24 5
27469511 2016
4
Low bone mineral density is a common feature of Zellweger spectrum disorders. 62 24 5
26643206 2016
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 62 24 5
22871920 2012
6
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 62 24 5
21031596 2011
7
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 62 24 5
20647552 2010
8
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 62 24 5
19127411 2009
9
Identification of a common PEX1 mutation in Zellweger syndrome. 62 24 5
10447258 1999
10
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 24 5
27872819 2016
11
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 24 5
26387595 2015
12
Mutations in PEX10 are a cause of autosomal recessive ataxia. 24 5
20695019 2010
13
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 24 5
15184617 2004
14
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 24 5
12794690 2003
15
Genotype-phenotype correlations in disorders of peroxisome biogenesis. 24 5
10527683 1999
16
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review. 62 5
33708531 2021
17
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 62 5
30561787 2019
18
Development and validation of a severity scoring system for Zellweger spectrum disorders. 62 5
28857144 2018
19
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 62 5
26287655 2016
20
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 62 5
27882258 2016
21
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. 62 5
24503136 2014
22
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 62 5
24016303 2013
23
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 62 5
23247051 2013
24
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 62 5
23430938 2012
25
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. 62 5
20681997 2011
26
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 62 5
19877282 2010
27
Rational diagnostic strategy for Zellweger syndrome spectrum patients. 62 5
19142205 2009
28
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 62 5
19105186 2009
29
Peroxisome biogenesis disorders. 62 5
17055079 2006
30
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 62 5
17041890 2006
31
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 62 5
16141001 2005
32
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 62 5
16086329 2005
33
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 62 5
16088892 2005
34
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 62 5
15542397 2004
35
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 62 5
12032265 2002
36
Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss. 5
34744965 2021
37
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). 5
32399598 2020
38
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 5
32214227 2020
39
Genetic basis of neurodevelopmental disorders in 103 Jordanian families. 5
32056211 2020
40
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. 5
31980526 2020
41
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. 5
33083013 2020
42
Expanding the clinical and genetic spectrum of Heimler syndrome. 5
31831025 2019
43
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 5
31319225 2019
44
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder. 62 24
31150129 2019
45
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. 5
31374812 2019
46
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26. 5
30366024 2019
47
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 5
30640048 2019
48
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival. 5
30078639 2019
49
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder. 62 24
30519152 2018
50
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 5
29389947 2018

Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

5 (show top 50) (show all 2179)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX10 NM_002617.4(PEX10):c.704dup (p.Leu236fs) DUP Pathogenic
Pathogenic
6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
2 PEX6 NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) SNV Pathogenic
942518 rs1769818844 GRCh37: 6:42934361-42934361
GRCh38: 6:42966623-42966623
3 PEX1 NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) INDEL Pathogenic
965312 rs1792860966 GRCh37: 7:92146994-92147010
GRCh38: 7:92517680-92517696
4 PEX1 NM_000466.3(PEX1):c.1842del (p.Glu615fs) DEL Pathogenic
Pathogenic
371703 rs267608176 GRCh37: 7:92135620-92135620
GRCh38: 7:92506306-92506306
5 PEX1 NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) INDEL Pathogenic
970432 rs1791951634 GRCh37: 7:92131289-92131290
GRCh38: 7:92501975-92501976
6 PEX10 NM_002617.4(PEX10):c.1A>G (p.Met1Val) SNV Pathogenic
280002 rs886041314 GRCh37: 1:2343941-2343941
GRCh38: 1:2412502-2412502
7 PEX1 NM_000466.3(PEX1):c.788_789del (p.Thr263fs) DEL Pathogenic
Pathogenic
1098755 GRCh37: 7:92147040-92147041
GRCh38: 7:92517726-92517727
8 PEX10 NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) SNV Pathogenic
Pathogenic
162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
9 GATAD1, PEX1 NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) DEL Pathogenic
817583 rs1585214453 GRCh37: 7:92120692-92120695
GRCh38: 7:92491378-92491381
10 PEX10 NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) SNV Pathogenic
282334 rs62641225 GRCh37: 1:2338000-2338000
GRCh38: 1:2406561-2406561
11 PEX6 NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) SNV Pathogenic
940761 rs267608212 GRCh37: 6:42941817-42941817
GRCh38: 6:42974079-42974079
12 PEX1 NM_000466.3(PEX1):c.657_660del (p.Ser220fs) DEL Pathogenic
191337 rs786205656 GRCh37: 7:92147169-92147172
GRCh38: 7:92517855-92517858
13 PEX6 NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) MICROSAT Pathogenic
92779 rs398123303 GRCh37: 6:42937434-42937435
GRCh38: 6:42969696-42969697
14 PEX1 NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) SNV Pathogenic
93104 rs398123409 GRCh37: 7:92131390-92131390
GRCh38: 7:92502076-92502076
15 PEX1 NM_000466.3(PEX1):c.1131del (p.Asp378fs) DEL Pathogenic
286796 rs886043479 GRCh37: 7:92146698-92146698
GRCh38: 7:92517384-92517384
16 PEX6 NM_000287.4(PEX6):c.1841del (p.Leu614fs) DEL Pathogenic
217426 rs863225083 GRCh37: 6:42935149-42935149
GRCh38: 6:42967411-42967411
17 GATAD1, PEX1 NM_000466.3(PEX1):c.2859dup (p.Thr954fs) DUP Pathogenic
371706 rs1057517472 GRCh37: 7:92123867-92123868
GRCh38: 7:92494553-92494554
18 PEX1 NM_000466.3(PEX1):c.1927dup (p.Thr643fs) DUP Pathogenic
558710 rs1554372180 GRCh37: 7:92134189-92134190
GRCh38: 7:92504875-92504876
19 PEX1 NM_000466.3(PEX1):c.1522dup (p.Glu508fs) DUP Pathogenic
371689 rs1057517463 GRCh37: 7:92140322-92140323
GRCh38: 7:92511008-92511009
20 GATAD1, PEX1 NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) SNV Pathogenic
371698 rs1057517467 GRCh37: 7:92119090-92119090
GRCh38: 7:92489776-92489776
21 PEX1 NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) SNV Pathogenic
Likely Pathogenic
550841 rs61750409 GRCh37: 7:92135565-92135565
GRCh38: 7:92506251-92506251
22 PEX6 NM_000287.4(PEX6):c.506_507del (p.Glu169fs) MICROSAT Pathogenic
554303 rs1554128461 GRCh37: 6:42946382-42946383
GRCh38: 6:42978644-42978645
23 PEX1 NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) DUP Pathogenic
558642 rs1554372561 GRCh37: 7:92135622-92135623
GRCh38: 7:92506308-92506309
24 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) SNV Pathogenic
810635 rs201415996 GRCh37: 7:92147524-92147524
GRCh38: 7:92518210-92518210
25 PEX6 NM_000287.4(PEX6):c.1415del (p.Pro472fs) DEL Pathogenic
1369876 GRCh37: 6:42936676-42936676
GRCh38: 6:42968938-42968938
26 PEX6 NM_000287.4(PEX6):c.2470del (p.Arg824fs) DEL Pathogenic
1356953 GRCh37: 6:42933420-42933420
GRCh38: 6:42965682-42965682
27 PEX6 NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer) MICROSAT Pathogenic
1357208 GRCh37: 6:42932576-42932580
GRCh38: 6:42964838-42964842
28 PEX6 NM_000287.4(PEX6):c.531del (p.Pro179fs) DEL Pathogenic
1356707 GRCh37: 6:42946358-42946358
GRCh38: 6:42978620-42978620
29 PEX1 NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) MICROSAT Pathogenic
1323432 GRCh37: 7:92132497-92132498
GRCh38: 7:92503183-92503184
30 PEX1 NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) SNV Pathogenic
1324876 GRCh37: 7:92140966-92140966
GRCh38: 7:92511652-92511652
31 PEX6 NM_000287.4(PEX6):c.2T>C (p.Met1Thr) SNV Pathogenic
1380352 GRCh37: 6:42946887-42946887
GRCh38: 6:42979149-42979149
32 PEX1 NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) SNV Pathogenic
1380467 GRCh37: 7:92130888-92130888
GRCh38: 7:92501574-92501574
33 PEX1 NM_000466.3(PEX1):c.2164del (p.Val723fs) DEL Pathogenic
1404596 GRCh37: 7:92132417-92132417
GRCh38: 7:92503103-92503103
34 PEX1 NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) SNV Pathogenic
1404606 GRCh37: 7:92132419-92132419
GRCh38: 7:92503105-92503105
35 GATAD1, PEX1 NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) MICROSAT Pathogenic
1363179 GRCh37: 7:92122318-92122322
GRCh38: 7:92493004-92493008
36 GATAD1, PEX1 NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) DEL Pathogenic
1384557 GRCh37: 7:92120764-92120765
GRCh38: 7:92491450-92491451
37 PEX6 NM_000287.4(PEX6):c.1891del (p.Val631fs) DEL Pathogenic
1363836 GRCh37: 6:42934590-42934590
GRCh38: 6:42966852-42966852
38 PEX6 NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter) SNV Pathogenic
1386889 GRCh37: 6:42932612-42932612
GRCh38: 6:42964874-42964874
39 PEX1 NM_000466.3(PEX1):c.2039del (p.Pro680fs) DEL Pathogenic
1403359 GRCh37: 7:92134078-92134078
GRCh38: 7:92504764-92504764
40 PEX1 NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) SNV Pathogenic
1403370 GRCh37: 7:92146874-92146874
GRCh38: 7:92517560-92517560
41 PEX6 NM_000287.4(PEX6):c.1522del (p.Glu508fs) DEL Pathogenic
1421817 GRCh37: 6:42936194-42936194
GRCh38: 6:42968456-42968456
42 PEX1 NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) SNV Pathogenic
1422035 GRCh37: 7:92136316-92136316
GRCh38: 7:92507002-92507002
43 PEX1 NM_000466.3(PEX1):c.1963_1967del (p.Gln655fs) DEL Pathogenic
1380000 GRCh37: 7:92134150-92134154
GRCh38: 7:92504836-92504840
44 PEX16 NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) SNV Pathogenic
1415802 GRCh37: 11:45935731-45935731
GRCh38: 11:45914180-45914180
45 PEX6 NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter) SNV Pathogenic
1424285 GRCh37: 6:42937700-42937700
GRCh38: 6:42969962-42969962
46 PEX6 NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs) DUP Pathogenic
1384356 GRCh37: 6:42935182-42935183
GRCh38: 6:42967444-42967445
47 PEX6 NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs) MICROSAT Pathogenic
1413170 GRCh37: 6:42941772-42941773
GRCh38: 6:42974034-42974035
48 PEX6 NM_000287.4(PEX6):c.738_741del (p.Glu246fs) DEL Pathogenic
1418343 GRCh37: 6:42946148-42946151
GRCh38: 6:42978410-42978413
49 PEX6 NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) SNV Pathogenic
1362435 GRCh37: 6:42935216-42935216
GRCh38: 6:42967478-42967478
50 GATAD1, PEX1 NM_000466.3(PEX1):c.2977dup (p.Leu993fs) DUP Pathogenic
1415183 GRCh37: 7:92123659-92123660
GRCh38: 7:92494345-92494346

Expression for Zellweger Spectrum Disorder

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

Pathways for Zellweger Spectrum Disorder

GO Terms for Zellweger Spectrum Disorder

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

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 10.09 PEX1 PEX10 PEX11B PEX12 PEX13 PEX16
2 peroxisomal membrane GO:0005778 9.91 PEX1 PEX10 PEX11B PEX12 PEX13 PEX16
3 peroxisomal importomer complex GO:1990429 9.56 PEX13 PEX12
4 obsolete integral component of peroxisomal membrane GO:0005779 9.1 PEX11B PEX12 PEX13 PEX16 PEX2 PEX26

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.86 PEX6 PEX16 PEX12 PEX1
2 peroxisome organization GO:0007031 9.8 PEX1 PEX10 PEX11B PEX12 PEX16 PEX2
3 protein import into peroxisome membrane GO:0045046 9.73 PEX26 PEX16
4 microtubule-based peroxisome localization GO:0060152 9.62 PEX13 PEX1
5 protein to membrane docking GO:0022615 9.58 PEX26 PEX16
6 protein import into peroxisome matrix, receptor recycling GO:0016562 9.55 PEX6 PEX2 PEX12 PEX10 PEX1
7 protein import into peroxisome matrix GO:0016558 9.47 PEX1 PEX10 PEX12 PEX16 PEX2 PEX26
8 protein unfolding GO:0043335 9.37 PEX6 PEX1

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

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.32 PEX6 PEX26 PEX16 PEX12 PEX1
2 protein transporter activity GO:0140318 9.16 PEX6 PEX1
3 ubiquitin-dependent protein binding GO:0140036 8.96 PEX6 PEX1

Sources for Zellweger Spectrum Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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