MCID: PRX096
MIFTS: 23

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Categories: Rare diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

MalaCards integrated aliases for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum:

Name: Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum 53
Zellweger Spectrum 53 72
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum 53
Peroxisome Biogenesis Disorder Spectrum 53
Pbd-Zellweger Spectrum Disorder 53
Peroxisome Biogenesis Disorder 53
Zellweger Spectrum Disorders 53
Zellweger Syndrome Spectrum 53
Pbd, Zss 53
Pbd-Zsd 53
Pbd-Zss 53

Classifications:



External Ids:

UMLS 72 C3658299

Summaries for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

NIH Rare Diseases : 53 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.

MalaCards based summary : Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum, also known as zellweger spectrum, is related to peroxisome biogenesis disorder 1b and peroxisome biogenesis disorder 4a. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain.

Related Diseases for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 13.0
2 peroxisome biogenesis disorder 4a 13.0
3 peroxisome biogenesis disorder 5a 13.0
4 peroxisome biogenesis disorder 1a 13.0
5 peroxisome biogenesis disorder 6a 13.0
6 peroxisome biogenesis disorder 2a 13.0
7 peroxisome biogenesis disorder 11a 13.0
8 peroxisome biogenesis disorder 12a 13.0
9 peroxisome biogenesis disorder 10a 13.0
10 peroxisome biogenesis disorder 3a 13.0
11 peroxisome biogenesis disorder 7a 13.0
12 peroxisome biogenesis disorder 13a 13.0
13 peroxisome biogenesis disorder 8a 13.0
14 peroxisome biogenesis disorder 9b 13.0
15 peroxisome biogenesis disorder 14b 13.0
16 peroxisome biogenesis disorder 6b 12.9
17 peroxisome biogenesis disorder 11b 12.9
18 peroxisome biogenesis disorder 5b 12.9
19 peroxisome biogenesis disorder 7b 12.9
20 peroxisome biogenesis disorder 4b 12.9
21 peroxisome biogenesis disorder 8b 12.9
22 peroxisome biogenesis disorder 3b 12.9
23 peroxisome biogenesis disorder 2b 12.9
24 peroxisome biogenesis disorder 10b 12.9
25 peroxisomal biogenesis disorder 12.8
26 rhizomelic chondrodysplasia punctata, type 1 12.4
27 heimler syndrome 1 12.4
28 heimler syndrome 2 12.4
29 zellweger syndrome 12.3
30 zellweger spectrum disorder 12.0
31 adrenoleukodystrophy 11.7
32 refsum disease, classic 11.7
33 rhizomelic chondrodysplasia punctata 11.7
34 rhizomelic chondrodysplasia punctata, type 3 11.7
35 rhizomelic chondrodysplasia punctata, type 2 11.7
36 refsum disease, infantile form 11.6
37 d-bifunctional protein deficiency 11.2
38 neonatal adrenoleukodystrophy 10.7
39 adrenomyeloneuropathy 10.7
40 chondrodysplasia punctata syndrome 10.5
41 peroxisomal disease 10.5
42 branchiootic syndrome 1 10.4
43 hypotonia 10.4
44 ataxia and polyneuropathy, adult-onset 10.3
45 leber congenital amaurosis 1 10.3
46 leber congenital amaurosis 2 10.3
47 leber congenital amaurosis 3 10.3
48 leber congenital amaurosis 4 10.3
49 leber congenital amaurosis 5 10.3
50 retinitis pigmentosa 7 10.3

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum:



Diseases related to Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Drugs & Therapeutics for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Gastrointestinal Agents Phase 3
3 Lipid Regulating Agents Phase 3
4 Hypolipidemic Agents Phase 3
5 Antimetabolites Phase 3
6
Hydroxychloroquine Approved Phase 2 118-42-3 3652
7 Antimalarials Phase 2
8 Antiparasitic Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Antiprotozoal Agents Phase 2
11 Antirheumatic Agents Phase 2
12 Cholic Acids
13 Bile Acids and Salts

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 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
3 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
4 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
5 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

Search NIH Clinical Center for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Genetic Tests for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Anatomical Context for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum:

41
Liver, Bone, Brain, Eye

Publications for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Articles related to Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. 38
31254513 2019
2
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia. 38
31227335 2019
3
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder. 38
31207289 2019
4
Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders. 38
30898411 2019
5
Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study. 38
30815361 2019
6
Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder. 38
31150129 2019
7
Chondrodysplasia Punctata in Zellweger Spectrum Disorders: Evidence for a Common Finding in Affected Infants. 38
31113714 2019
8
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools. 38
30846882 2019
9
Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids. 38
30362618 2019
10
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy. 38
30793331 2019
11
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 38
30561787 2019
12
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. 38
30446579 2019
13
Inborn Errors of Bile Acid Metabolism. 38
30266156 2018
14
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. 38
29419819 2018
15
Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder. 38
30519152 2018
16
Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders. 38
30057520 2018
17
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). 38
29482424 2018
18
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up. 38
29453832 2018
19
The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy. 38
29766340 2018
20
Renal oxalate stones in children with Zellweger spectrum disorders. 38
29628851 2018
21
Coagulopathy in Zellweger spectrum disorders: a role for vitamin K. 38
29139025 2018
22
Development and validation of a severity scoring system for Zellweger spectrum disorders. 38
28857144 2018
23
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders. 38
28968290 2018
24
Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution. 38
28953533 2018
25
Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study. 38
28902093 2017
26
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 38
29220678 2017
27
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders. 38
28677031 2017
28
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders. 38
28644367 2017
29
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. 38
28673549 2017
30
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. 38
28784167 2017
31
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. 38
28566232 2017
32
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. 38
28649513 2017
33
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. 38
27557811 2017
34
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders. 38
28446956 2017
35
Cholic acid therapy in Zellweger spectrum disorders. 38
27469511 2016
36
Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. 38
27392320 2016
37
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. 38
27089543 2016
38
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 38
27230853 2016
39
Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios. 38
27284103 2016
40
Eye movement abnormalities in a patient with Zellweger spectrum disorder. 38
26850714 2016
41
Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. 38
27331009 2016
42
Role of AAA(+)-proteins in peroxisome biogenesis and function. 38
26453804 2016
43
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. 38
26750748 2016
44
Low bone mineral density is a common feature of Zellweger spectrum disorders. 38
26643206 2016
45
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 38
27882258 2016
46
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. 38
26303611 2016
47
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 38
26287655 2016
48
Zellweger spectrum disorders: clinical overview and management approach. 38
26627182 2015
49
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 38
26220973 2015
50
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 38
26319495 2015

Variations for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Expression for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum.

Pathways for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

GO Terms for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Sources for Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

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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