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

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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases Bone diseases Liver diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0043459 C3658299

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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

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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:

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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

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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

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Genetic Tests for Zellweger Spectrum Disorder

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Anatomical Context for Zellweger Spectrum Disorder

Organs/tissues related to Zellweger Spectrum Disorder:

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

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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	Falkenberg KD...Waterham HR	29220678	2017
2	Spectrum of PEX1 and PEX6 variants in Heimler syndrome. ⁶² ²⁴ ⁵	Smith CE...Inglehearn CF	27302843	2016
3	Cholic acid therapy in Zellweger spectrum disorders. ⁶² ²⁴ ⁵	Berendse K...Poll-The BT	27469511	2016
4	Low bone mineral density is a common feature of Zellweger spectrum disorders. ⁶² ²⁴ ⁵	Rush ET...Rizzo WB	26643206	2016
5	Genetics and molecular basis of human peroxisome biogenesis disorders. ⁶² ²⁴ ⁵	Waterham HR...Ebberink MS	22871920	2012
6	Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. ⁶² ²⁴ ⁵	Ebberink MS...Waterham HR	21031596	2011
7	Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. ⁶² ²⁴ ⁵	Ebberink MS...Ferdinandusse S	20647552	2010
8	A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. ⁶² ²⁴ ⁵	Steinberg SJ...Moser HW	19127411	2009
9	Identification of a common PEX1 mutation in Zellweger syndrome. ⁶² ²⁴ ⁵	Collins CS...Gould SJ	10447258	1999
10	Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. ²⁴ ⁵	Ventura MJ...Wangler MF	27872819	2016
11	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ²⁴ ⁵	Ratbi I...Van Camp G	26387595	2015
12	Mutations in PEX10 are a cause of autosomal recessive ataxia. ²⁴ ⁵	Regal L...Waterham HR	20695019	2010
13	Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. ²⁴ ⁵	Gootjes J...Ferdinandusse S	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	Shimozawa N...Kondo N	12794690	2003
15	Genotype-phenotype correlations in disorders of peroxisome biogenesis. ²⁴ ⁵	Moser HW	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	Lu P...Cai C	33708531	2021
17	The many faces of peroxisomal disorders: Lessons from a large Arab cohort. ⁶² ⁵	Alshenaifi J...Alkuraya FS	30561787	2019
18	Development and validation of a severity scoring system for Zellweger spectrum disorders. ⁶² ⁵	Klouwer FCC...Poll-The BT	28857144	2018
19	Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. ⁶² ⁵	Berendse K...Poll-The BT	26287655	2016
20	Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. ⁶² ⁵	Gunduz M...Unal O	27882258	2016
21	The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. ⁶² ⁵	Hiebler S...Steinberg SJ	24503136	2014
22	Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. ⁶² ⁵	Berendse K...Waterham HR	24016303	2013
23	Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. ⁶² ⁵	Sun Y...Yi X	23247051	2013
24	Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. ⁶² ⁵	Mignarri A...Federico A	23430938	2012
25	Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. ⁶² ⁵	Shaheen R...Alkuraya FS	20681997	2011
26	Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ⁶² ⁵	Ebberink MS...Waterham HR	19877282	2010
27	Rational diagnostic strategy for Zellweger syndrome spectrum patients. ⁶² ⁵	Krause C...Gartner J	19142205	2009
28	Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ⁶² ⁵	Yik WY...Hacia JG	19105186	2009
29	Peroxisome biogenesis disorders. ⁶² ⁵	Steinberg SJ...Moser HW	17055079	2006
30	Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. ⁶² ⁵	Krause C...Gartner J	17041890	2006
31	Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. ⁶² ⁵	Rosewich H...Gartner J	16141001	2005
32	PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. ⁶² ⁵	Crane DI...Paton BC	16086329	2005
33	Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. ⁶² ⁵	Maxwell MA...Crane DI	16088892	2005
34	The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ⁶² ⁵	Steinberg S...Braverman N	15542397	2004
35	PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. ⁶² ⁵	Preuss N...Gartner J	12032265	2002
36	Peripheral Vestibular Dysfunction Is a Common Occurrence in Children With Non-syndromic and Syndromic Genetic Hearing Loss. ⁵	Wang A...Brodsky JR	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	Tucker EJ...Sinclair AH	32399598	2020
38	First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. ⁵	Hengel H...Schols L	32214227	2020
39	Genetic basis of neurodevelopmental disorders in 103 Jordanian families. ⁵	Froukh T...Buchert R	32056211	2020
40	Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. ⁵	Hou YC...Caskey CT	31980526	2020
41	Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. ⁵	Cheema H...Rolfs A	33083013	2020
42	Expanding the clinical and genetic spectrum of Heimler syndrome. ⁵	Gao FJ...Wu JH	31831025	2019
43	Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. ⁵	Isik E...Ozkinay F	31319225	2019
44	Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder. ⁶² ²⁴	Berendse K...Poll-The BT	31150129	2019
45	Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. ⁵	Schieferdecker A...Wendler P	31374812	2019
46	Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26. ⁵	Guder P...Gersting SW	30366024	2019
47	Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. ⁵	Zhang C...Cao L	30640048	2019
48	Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival. ⁵	Zaabi NA...Al-Dirbashi OY	30078639	2019
49	Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder. ⁶² ²⁴	Heubi JE...Bishop WP	30519152	2018
50	Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. ⁵	Cordoba M...Kauffman MA	29389947	2018

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Genes for Zellweger Spectrum Disorder

Genes related to Zellweger Spectrum Disorder (8 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	432.56	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	8670792 10408779 11355018 (more) 15542397 15858711 16199547 19105186 19142205 19763152 19877282 20307669 21031596 21520333 22406018 22894767 24016303 26387595 26669662 27302843 27604308 27779215 28857144 29220678 31831025 31980526 32399598 8940266 31374812
2	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	432.22	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Publications (show sections)	9398847 9398848 10384394 (more) 10447258 11389485 11439091 12032265 12402331 15542397 16086329 16088892 16141001 16199547 17055079 19105186 19877282 21031596 21844578 21846392 22871920 23247051 24503136 26287655 26387595 26643206 27090541 27302843 27469511 27872819 27882258 28468868 30561787 31319225 31374812 31831025 32056211 32214227 33083013 33708531 34744965 9536098 17576681 20952722 25525159 27124789 27231023
3	GATAD1	GATA Zinc Finger Domain Containing 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9398847 10447258 11389485 (more) 12032265 12402331 15542397 16086329 16088892 16141001 16199547 19105186 21031596 26387595 27302843 31831025 33083013 33708531 9536098 17576681 20952722 21844578 25525159 27124789 27469511 30561787
4	PEX10	Peroxisomal Biogenesis Factor 10	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9683594 10862081 12794690 (more) 15542397 17041890 17702006 19105186 19127411 20695019 21031596 21465523 30640048 10527683
5	PEX12	Peroxisomal Biogenesis Factor 12	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9090384 9632816 9792857 (more) 10527683 10562279 10837480 14630978 15184617 15241794 15542397 19105186 19127411 19877282 21031596 21465523 24627108 25287621 29389947
6	PEX16	Peroxisomal Biogenesis Factor 16	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9837814 11890679 20647552 (more) 20681997 16199547 27391121 30078639
7	PEX2	Peroxisomal Biogenesis Factor 2	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9585609 10528859 14630978 (more) 15542397 21031596 21465523 23430938 23829372 28089346
8	PEX26	Peroxisomal Biogenesis Factor 26	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	12851857 15542397 16257970 (more) 19877282 21031596 30366024
9	PEX11B	Peroxisomal Biogenesis Factor 11 Beta	Protein Coding	25	Likely pathogenic ⁵
10	PEX13	Peroxisomal Biogenesis Factor 13	Protein Coding	25	Likely pathogenic ⁵

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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

Sources

Expression for Zellweger Spectrum Disorder

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

Sources

Pathways for Zellweger Spectrum Disorder

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

#	Super pathways	Score	Top Affiliating Genes
1	Peroxisomal lipid metabolism ⁶⁶ Show member pathways Alpha-oxidation of phytanate ⁶⁶ Beta-oxidation of pristanoyl-CoA ⁶⁶ Beta-oxidation of very long chain fatty acids ⁶⁶ Class I peroxisomal membrane protein import ⁶⁶ Mitochondrial protein import ⁶⁶ Peroxisomal beta-oxidation of tetracosanoyl-CoA ⁷⁴ Peroxisomal protein import ⁶⁶ phytol degradation ⁶¹ Protein localization ⁶⁶ TYSND1 cleaves peroxisomal proteins ⁶⁶	11.85	PEX6 PEX26 PEX2 PEX16 PEX13 PEX12
2	Protein ubiquitination ⁶⁶ Show member pathways E3 ubiquitin ligases ubiquitinate target proteins ⁶⁶	11.4	PEX2 PEX13 PEX12 PEX10
3	Ether lipid biosynthesis ⁷⁴	10.46	PEX16 PEX1

Sources

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

Sources for Zellweger Spectrum Disorder

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
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Zellweger Spectrum Disorder (ZSD)

Aliases & Classifications for Zellweger Spectrum Disorder

MalaCards integrated aliases for Zellweger Spectrum Disorder:

Classifications:

External Ids:

Summaries for Zellweger Spectrum Disorder

Related Diseases for Zellweger Spectrum Disorder

Diseases in the Zellweger Syndrome family:

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

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

Symptoms & Phenotypes for Zellweger Spectrum Disorder

UMLS symptoms related to Zellweger Spectrum Disorder:

MGI Mouse Phenotypes related to Zellweger Spectrum Disorder:

Drugs & Therapeutics for Zellweger Spectrum Disorder

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

Interventional clinical trials:

Genetic Tests for Zellweger Spectrum Disorder

Anatomical Context for Zellweger Spectrum Disorder

Organs/tissues related to Zellweger Spectrum Disorder:

Publications for Zellweger Spectrum Disorder

Articles related to Zellweger Spectrum Disorder:

Genes for Zellweger Spectrum Disorder

Genes related to Zellweger Spectrum Disorder (8 elite genes):

Variations for Zellweger Spectrum Disorder

ClinVar genetic disease variations for Zellweger Spectrum Disorder:

Expression for Zellweger Spectrum Disorder

Pathways for Zellweger Spectrum Disorder

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

GO Terms for Zellweger Spectrum Disorder

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

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

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

Sources for Zellweger Spectrum Disorder