ZSD
MCID: ZLL011
MIFTS: 43

Zellweger Spectrum Disorder (ZSD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Zellweger Spectrum Disorder

MalaCards integrated aliases for Zellweger Spectrum Disorder:

Name: Zellweger Spectrum Disorder 24 25
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 25 29 6
Zellweger Syndrome Spectrum 25 6
Zellweger Spectrum 25 72
Zsd 24 25
Cerebrohepatorenal Syndrome 25
Zellweger Syndrome 72
Pbd, Zss 25
Pbd-Zsd 25

Classifications:



External Ids:

UMLS 72 C0043459 C3658299

Summaries for Zellweger Spectrum Disorder

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 deafness enamel hypoplasia nail defects and peroxisome biogenesis disorder 1a, 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 Gastrointestinal Agents and Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, and related phenotype is liver/biliary system.

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 94)
# Related Disease Score Top Affiliating Genes
1 deafness enamel hypoplasia nail defects 30.8 PEX6 PEX1
2 peroxisome biogenesis disorder 1a 30.4 PEX10 PEX1
3 rhizomelic chondrodysplasia punctata 30.1 PEX5 PEX26
4 peroxisome biogenesis disorder 11a 30.1 PEX13 PEX1
5 peroxisome biogenesis disorder 11b 30.0 PEX13 PEX1
6 peroxisomal disease 29.7 PEX5 PEX2 PEX1
7 rhizomelic chondrodysplasia punctata, type 1 29.6 PEX5 PEX2 PEX12
8 refsum disease, classic 29.4 PEX5 PEX16 PEX14
9 adrenoleukodystrophy 28.3 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
10 zellweger syndrome 27.0 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
11 neonatal adrenoleukodystrophy 24.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 peroxisome biogenesis disorder 1b 24.0 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
13 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.0
14 d-bifunctional protein deficiency 11.3
15 peroxisomal acyl-coa oxidase deficiency 11.3
16 polymicrogyria 11.2
17 adrenomyeloneuropathy 10.3
18 peroxisomal biogenesis disorder 10.2
19 osteoporosis 10.2
20 bone mineral density quantitative trait locus 8 10.2
21 bone mineral density quantitative trait locus 15 10.2
22 chondrodysplasia punctata syndrome 10.2
23 bone mineral density quantitative trait locus 3 10.2
24 polyneuropathy 10.2
25 refsum disease, infantile form 10.2
26 hepatorenal syndrome 10.2
27 peroxisome biogenesis disorder 4b 10.1
28 peroxisome biogenesis disorder 5a 10.1
29 peroxisome biogenesis disorder 5b 10.1
30 alacrima, achalasia, and mental retardation syndrome 10.1
31 peroxisome biogenesis disorder 10b 10.1
32 autosomal recessive disease 10.1
33 sensorineural hearing loss 10.1
34 leukodystrophy 10.1
35 cholestasis 10.1
36 pathologic nystagmus 10.1
37 hypotonia 10.1
38 3-methylglutaconic aciduria, type iii 10.0
39 retinitis pigmentosa 10.0
40 short-rib thoracic dysplasia 4 with or without polydactyly 10.0
41 asphyxiating thoracic dystrophy 10.0
42 neuroretinitis 10.0
43 tuberous sclerosis 10.0
44 retinitis 10.0
45 lymphangiectasis 10.0
46 strabismus 9.9
47 peroxisome biogenesis disorder 2b 9.9
48 peroxisome biogenesis disorder 2a 9.9
49 heimler syndrome 1 9.9
50 peroxisome biogenesis disorder 3b 9.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 PEX1 PEX11B PEX13 PEX2 PEX5

Drugs & Therapeutics for Zellweger Spectrum Disorder

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents Phase 3
2 Cholic Acids Phase 3
3 Bile Acids and Salts Phase 3
4 Liver Extracts Phase 3
5
Hydroxychloroquine Approved Phase 2 118-42-3 3652
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Tocotrienol Investigational Phase 2 6829-55-6
16 Antimalarials Phase 2
17 Antiparasitic Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antiprotozoal Agents Phase 2
20 Antirheumatic Agents Phase 2
21 Alkylating Agents Phase 2
22 Tocotrienols Phase 2
23 Alpha-lipoic Acid Phase 2
24 Antilymphocyte Serum Phase 2
25 Tocopherols Phase 2
26 N-monoacetylcystine Phase 2
27 Immunosuppressive Agents Phase 2
28 Vitamins Phase 2
29 Thioctic Acid Phase 2
30 Antimetabolites Phase 2
31 Immunologic Factors Phase 2
32 Antimetabolites, Antineoplastic Phase 2
33 Antineoplastic Agents, Alkylating Phase 2
34
chenodeoxycholic acid Approved 474-25-9 10133
35
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
36 Cathartics
37 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." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 Completed NCT00007020 Phase 3 Cholic Acids
2 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting 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 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
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

Genetic Tests for Zellweger Spectrum Disorder

Genetic tests related to Zellweger Spectrum Disorder:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum 29

Anatomical Context for Zellweger Spectrum Disorder

MalaCards organs/tissues related to Zellweger Spectrum Disorder:

41
Liver, Brain, Bone, Heart, Kidney, Spinal Cord, Eye

Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Zellweger Spectrum Disorder 38 71
20301621 2003
2
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 38 4
29220678 2017
3
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy. 38 4
25079577 2014
4
Genetics and molecular basis of human peroxisome biogenesis disorders. 71
22871920 2012
5
Peroxisome biogenesis disorders. 71
17055079 2006
6
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 71
10384394 1999
7
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 71
9398847 1997
8
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 71
9398848 1997
9
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. 4
27799409 2017
10
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. 4
27337030 2017
11
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 4
27872819 2016
12
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 4
27302843 2016
13
Cholic acid therapy in Zellweger spectrum disorders. 4
27469511 2016
14
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. 4
27633571 2016
15
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 4
27230853 2016
16
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 4
26604000 2016
17
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. 4
26992161 2016
18
Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. 4
26825290 2016
19
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. 4
26750748 2016
20
Low bone mineral density is a common feature of Zellweger spectrum disorders. 4
26643206 2016
21
Zellweger spectrum disorders: clinical overview and management approach. 4
26627182 2015
22
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 4
26387595 2015
23
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 4
25179809 2014
24
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 4
23105016 2013
25
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. 4
22581968 2012
26
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. 4
21862673 2011
27
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 4
21392394 2011
28
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 4
21031596 2011
29
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 4
20647552 2010
30
Mutations in PEX10 are a cause of autosomal recessive ataxia. 4
20695019 2010
31
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 4
19127411 2009
32
A lethal defect of mitochondrial and peroxisomal fission. 4
17460227 2007
33
Diffusion-weighted MR imaging in leukodystrophies. 4
16021451 2005
34
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection. 4
15635073 2005
35
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 4
15542397 2004
36
PEX1 deficiency presenting as Leber congenital amaurosis. 4
15301838 2004
37
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 4
15184617 2004
38
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 4
15098231 2004
39
Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder. 4
14736770 2004
40
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 4
12851857 2003
41
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 4
12794690 2003
42
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver. 4
14713221 2003
43
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 4
11992258 2002
44
A novel pex2 mutant: catalase-deficient but temperature-sensitive PTS1 and PTS2 import. 4
12054689 2002
45
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. 4
11873320 2002
46
Temperature-sensitive phenotype of Chinese hamster ovary cells defective in PEX5 gene. 4
11606046 2001
47
PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. 4
10968777 2000
48
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. 4
11004248 2000
49
The peroxisome biogenesis factors pex4p, pex22p, pex1p, and pex6p act in the terminal steps of peroxisomal matrix protein import. 4
11003648 2000
50
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. 4
10894227 2000

Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PEX12 NM_000286.3(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 17:33904914-33904914 17:35577895-35577895
2 PEX6 NM_000287.4(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 6:42933000-42933000 6:42965262-42965262
3 PEX6 NM_000287.4(PEX6): c.1947del (p.Ile650fs) deletion Pathogenic rs267608227 6:42934534-42934534 6:42966796-42966796
4 PEX26 NM_017929.6(PEX26): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs62641228 22:18562701-18562701 22:18079935-18079935
5 PEX26 NM_017929.6(PEX26): c.34dup (p.Leu12fs) duplication Pathogenic rs61752129 22:18561176-18561176 22:18078410-18078410
6 PEX10 NM_153818.1(PEX10): c.764dup (p.Leu256fs) duplication Pathogenic rs61750435 1:2338231-2338231 1:2406792-2406792
7 PEX1 NM_000466.3(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 7:92130876-92130876 7:92501562-92501562
8 PEX1 NM_000466.3(PEX1): c.2097dup (p.Ile700fs) duplication Pathogenic rs61750415 7:92132484-92132484 7:92503170-92503170
9 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
10 PEX2 NM_001079867.1(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 8:77896060-77896060 8:76983824-76983824
11 PEX12 NM_000286.3(PEX12): c.886_887CT[1] (p.Leu297fs) short repeat Pathogenic rs398123301 17:33902992-33902993 17:35575973-35575974
12 PEX1 NM_000466.3(PEX1): c.1952_1960dup (p.Met654_Gln655insThrValTrp) duplication Pathogenic rs398123408 7:92134157-92134165 7:92504843-92504851
13 PEX2 NM_001079867.1(PEX2): c.279_283del (p.Arg94fs) deletion Pathogenic rs61752122 8:77896132-77896136 8:76983896-76983900
14 PEX6 NM_000287.4(PEX6): c.1314_1321del (p.Glu439fs) deletion Pathogenic rs267608216 6:42937452-42937459 6:42969714-42969721
15 PEX10 NM_153818.1(PEX10): c.874_875del (p.Leu292fs) deletion Pathogenic rs61752093 1:2338020-2338021 1:2406581-2406582
16 PEX6 NM_000287.4(PEX6): c.1941C> A (p.Cys647Ter) single nucleotide variant Pathogenic 6:42934540-42934540 6:42966802-42966802
17 PEX6 NM_000287.4(PEX6): c.2667-2A> C single nucleotide variant Pathogenic 6:42932669-42932669 6:42964931-42964931
18 PEX1 NM_000466.3(PEX1): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic 7:92131252-92131252 7:92501938-92501938
19 PEX6 NM_000287.4(PEX6): c.2439del (p.Arg814fs) deletion Pathogenic 6:42933451-42933451 6:42965717-42965717
20 PEX6 NM_000287.4(PEX6): c.2074C> T (p.Gln692Ter) single nucleotide variant Pathogenic 6:42934283-42934283 6:42966545-42966545
21 PEX2 NM_001079867.1(PEX2): c.339_345del (p.Gly113_Arg114insTer) deletion Pathogenic/Likely pathogenic rs764771123 8:77896070-77896076 8:76983834-76983840
22 PEX1 NM_000466.3(PEX1): c.2916del (p.Gly973fs) deletion Pathogenic/Likely pathogenic rs61750426 7:92123811-92123811 7:92494497-92494497
23 PEX6 NM_000287.4(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 6:42933450-42933450 6:42965712-42965712
24 PEX1 NM_000466.3(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750428 7:92123645-92123645 7:92494331-92494331
25 PEX1 NM_000466.3(PEX1): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic/Likely pathogenic rs149806989 7:92147282-92147282 7:92517968-92517968
26 PEX12 NM_000286.3(PEX12): c.730_733dup (p.Leu245fs) duplication Pathogenic/Likely pathogenic rs61752107 17:33903148-33903151 17:35576129-35576132
27 PEX12 NM_000286.3(PEX12): c.268_271del (p.Lys90fs) deletion Pathogenic/Likely pathogenic rs61752100 17:33904466-33904469 17:35577447-35577450
28 PEX2 NM_001079867.1(PEX2): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61752124 8:77896042-77896042 8:76983806-76983806
29 PEX12 NM_000286.3(PEX12): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61752106 17:33904112-33904112 17:35577093-35577093
30 PEX6 NM_000287.4(PEX6): c.2362G> A (p.Val788Met) single nucleotide variant Likely pathogenic rs267608240 6:42933782-42933782 6:42966044-42966044
31 PEX6 NM_000287.4(PEX6): c.510dup (p.Gly171fs) duplication Likely pathogenic rs1491384052 6:42946378-42946378 6:42978641-42978641
32 PEX26 NM_017929.6(PEX26): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic rs1556586479 22:18561327-18561327 22:18078561-18078561
33 PEX6 NM_000287.4(PEX6): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs1554127491 6:42937413-42937413 6:42969675-42969675
34 PEX6 NM_000287.4(PEX6): c.1233+1G> A single nucleotide variant Likely pathogenic rs763459576 6:42937622-42937622 6:42969884-42969884
35 PEX6 NM_000287.4(PEX6): c.406_407insT (p.Pro136fs) insertion Likely pathogenic 6:42946482-42946483 6:42978744-42978745
36 PEX12 NM_000286.3(PEX12): c.445_454del (p.Ser149fs) deletion Likely pathogenic 17:33904283-33904292 17:35577266-35577275
37 PEX6 NM_000287.4(PEX6): c.2364_2365del (p.Phe789Cysfs) deletion Likely pathogenic 6:42933525-42933526 6:42965787-42965788
38 PEX1 NM_000466.3(PEX1): c.1900+2T> C single nucleotide variant Likely pathogenic 7:92135560-92135560 7:92506246-92506246
39 PEX12 NM_000286.3(PEX12): c.681-2A> C single nucleotide variant Conflicting interpretations of pathogenicity rs187526749 17:33903202-33903202 17:35576183-35576183
40 PEX6 NM_000287.4(PEX6): c.1677C> A (p.Asp559Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs61732159 6:42936039-42936039 6:42968301-42968301
41 PEX6 NM_000287.4(PEX6): c.853C> G (p.Pro285Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61753220 6:42946036-42946036 6:42978298-42978298
42 PEX6 NM_000287.3(PEX6): c.2095-21_2095-10delCACGCACTTTCC deletion Conflicting interpretations of pathogenicity rs772869377 6:42934195-42934206 6:42966457-42966468
43 PEX12 NM_000286.3(PEX12): c.201_203TCT[1] (p.Leu70del) short repeat Uncertain significance rs61752098 17:33904531-33904533 17:35577512-35577514
44 PEX6 NM_000287.4(PEX6): c.2866G> A (p.Ala956Thr) single nucleotide variant Uncertain significance 6:42932150-42932150 6:42964412-42964412
45 PEX6 NM_000287.4(PEX6): c.202G> A (p.Gly68Ser) single nucleotide variant Uncertain significance 6:42946687-42946687 6:42978949-42978949
46 PEX6 NM_000287.4(PEX6): c.1310G> A (p.Gly437Asp) single nucleotide variant Uncertain significance 6:42937463-42937463 6:42969725-42969725
47 PEX6 NM_000287.4(PEX6): c.1409G> C (p.Gly470Ala) single nucleotide variant Uncertain significance 6:42936682-42936682 6:42968944-42968944
48 PEX6 NM_000287.4(PEX6): c.1234-8_1234-7dup duplication Benign/Likely benign rs200121485 6:42937545-42937546 6:42969807-42969808
49 PEX16 NM_057174.2(PEX16): c.760G> C (p.Val254Leu) single nucleotide variant Benign/Likely benign rs35214605 11:45935689-45935689 11:45914138-45914138
50 PEX6 NM_000287.4(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 6:42946682-42946682 6:42978944-42978944

Expression for Zellweger Spectrum Disorder

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

Pathways for Zellweger Spectrum Disorder

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

# Super pathways Score Top Affiliating Genes
1 11.36 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19

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 protein-containing complex GO:0032991 9.77 PEX5 PEX3 PEX19 PEX14 PEX11B
2 peroxisome GO:0005777 9.77 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
3 integral component of peroxisomal membrane GO:0005779 9.7 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
4 peroxisomal membrane GO:0005778 9.44 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
5 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12
6 membrane GO:0016020 10.13 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
7 integral component of membrane GO:0016021 10.06 PEX3 PEX26 PEX2 PEX16 PEX14 PEX13

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 9.89 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 protein targeting to peroxisome GO:0006625 9.7 PEX6 PEX5 PEX26 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 peroxisome fission GO:0016559 9.51 PEX19 PEX11B
9 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX5 PEX14 PEX13
10 peroxisome membrane biogenesis GO:0016557 9.48 PEX3 PEX16
11 protein import into peroxisome matrix, translocation GO:0016561 9.46 PEX6 PEX14
12 negative regulation of protein homotetramerization GO:1901094 9.43 PEX5 PEX14
13 microtubule-based peroxisome localization GO:0060152 9.4 PEX13 PEX1
14 peroxisome organization GO:0007031 9.36 PEX6 PEX5 PEX3 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

Sources for Zellweger Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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