PBD1B
MCID: PRX045
MIFTS: 61

Peroxisome Biogenesis Disorder 1b (PBD1B)

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 1b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 1b:

Name: Peroxisome Biogenesis Disorder 1b 57 72 29 13 6
Infantile Refsum Disease 12 53 58 72 36 6 15 70
Peroxisome Biogenesis Disorder 57 58 72 36 6 39
Infantile Phytanic Acid Storage Disease 57 12 53 72
Peroxisome Biogenesis Disorders 29 54 6
Refsum Disease, Infantile 57 44
Pbd1b 57 72
Adrenoleukodystrophy, Autosomal Neonatal 57
Peroxisome Biogenesis Disorder Spectrum 58
Autosomal Neonatal Adrenoleukodystrophy 72
Peroxisome Biogenesis Disorder, Type 1b 39
Refsum Disease - Infantile 53
Infantile Refsum's Disease 29
Refsum Disease Infantile 54
Ird 58

Characteristics:

Orphanet epidemiological data:

58
infantile refsum disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;
peroxisome biogenesis disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
survival into adulthood
disorder is progressive in some patients


HPO:

31
peroxisome biogenesis disorder 1b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Peroxisome Biogenesis Disorder 1b

NINDS : 53 Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements.  PBDs are part of a larger group of disorders called the leukodystrophies.  The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function.  When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers..  IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome.  Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood.  Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin.  At the mildest extreme of the disorder, intellect may be preserved.  Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different gene defects.

MalaCards based summary : Peroxisome Biogenesis Disorder 1b, also known as infantile refsum disease, is related to peroxisome biogenesis disorder 6a and peroxisome biogenesis disorder 6b, and has symptoms including seizures and decreased tendon reflex. An important gene associated with Peroxisome Biogenesis Disorder 1b is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. The drugs Betaine and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and brain, and related phenotypes are failure to thrive and global developmental delay

Disease Ontology : 12 A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes.

OMIM® : 57 Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, 214100) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see 214100. (601539) (Updated 20-May-2021)

KEGG : 36 Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), Infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1). Zellweger syndrome is the most severe form and results in neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar symptoms, but they survive considerably longer than ZS. NALD is the intermediate form and IRD is the mildest form.

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 1B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Related Diseases for Peroxisome Biogenesis Disorder 1b

Diseases in the Peroxisome Biogenesis Disorder 2b family:

Peroxisome Biogenesis Disorder 1a Peroxisome Biogenesis Disorder 2a
Peroxisome Biogenesis Disorder 3b Peroxisome Biogenesis Disorder 1b
Peroxisome Biogenesis Disorder 3a Peroxisome Biogenesis Disorder 4a
Peroxisome Biogenesis Disorder 4b Peroxisome Biogenesis Disorder 5a
Peroxisome Biogenesis Disorder 5b Peroxisome Biogenesis Disorder 6a
Peroxisome Biogenesis Disorder 6b Peroxisome Biogenesis Disorder 7a
Peroxisome Biogenesis Disorder 7b Peroxisome Biogenesis Disorder 8a
Peroxisome Biogenesis Disorder 8b Peroxisome Biogenesis Disorder 9b
Peroxisome Biogenesis Disorder 10a Peroxisome Biogenesis Disorder 11a
Peroxisome Biogenesis Disorder 11b Peroxisome Biogenesis Disorder 12a
Peroxisome Biogenesis Disorder 13a Peroxisome Biogenesis Disorder 14b
Peroxisome Biogenesis Disorder 10b

Diseases related to Peroxisome Biogenesis Disorder 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 6a 33.4 PLCH2 PEX10
2 peroxisome biogenesis disorder 6b 33.3 PLCH2 PEX10
3 rhizomelic chondrodysplasia punctata, type 1 33.1 PEX7 PEX6 PEX5 PEX13 HSD17B4
4 heimler syndrome 1 33.1 PEX6 PEX1 GATAD1
5 peroxisome biogenesis disorder 1a 33.0 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
6 zellweger spectrum disorder 32.5 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
7 zellweger syndrome 32.0 PLCH2 PIPOX PHEX PEX7 PEX6 PEX5
8 rhizomelic chondrodysplasia punctata 31.6 PIPOX PEX7 PEX6 PEX5 PEX3 PEX26
9 refsum disease, classic 31.2 PIPOX PEX7 PEX6 PEX5 PEX3 PEX26
10 peroxisomal biogenesis disorder 30.8 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
11 rhizomelic chondrodysplasia punctata, type 2 30.7 PEX7 PEX5 PEX16
12 neonatal adrenoleukodystrophy 30.7 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
13 rhizomelic chondrodysplasia punctata, type 3 30.7 PEX7 PEX5
14 adrenoleukodystrophy 30.6 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
15 sensorineural hearing loss 30.4 PEX6 PEX5 PEX26 PEX2 PEX13 PEX12
16 rhizomelic chondrodysplasia punctata, type 5 30.4 PEX7 PEX5
17 chondrodysplasia punctata syndrome 30.2 PEX7 PEX6 PEX5 PEX26 PEX2 PEX19
18 leukodystrophy 30.1 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
19 peroxisomal disease 29.9 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
20 peroxisome biogenesis disorder 2a 11.9
21 peroxisome biogenesis disorder 4a 11.9
22 peroxisome biogenesis disorder 11a 11.9
23 peroxisome biogenesis disorder 5a 11.9
24 peroxisome biogenesis disorder 9b 11.9
25 peroxisome biogenesis disorder 10a 11.9
26 peroxisome biogenesis disorder 12a 11.9
27 peroxisome biogenesis disorder 7a 11.9
28 peroxisome biogenesis disorder 8a 11.9
29 peroxisome biogenesis disorder 13a 11.9
30 peroxisome biogenesis disorder 3a 11.9
31 peroxisome biogenesis disorder 4b 11.9
32 peroxisome biogenesis disorder 2b 11.8
33 peroxisome biogenesis disorder 5b 11.8
34 peroxisome biogenesis disorder 8b 11.8
35 peroxisome biogenesis disorder 7b 11.8
36 peroxisome biogenesis disorder 11b 11.8
37 peroxisome biogenesis disorder 3b 11.8
38 peroxisome biogenesis disorder 10b 11.7
39 heimler syndrome 2 11.7
40 peroxisome biogenesis disorder 14b 10.9
41 refsum disease, infantile form 10.4
42 hypomagnesemia 1, intestinal 10.4 PEX26 PEX12 PEX1
43 keratosis follicularis spinulosa decalvans 10.4 PEX3 PEX19 PEX16
44 acatalasemia 10.4 PEX3 PEX19 CAT
45 adrenomyeloneuropathy 10.4
46 alpha-methylacyl-coa racemase deficiency 10.4 PEX6 PEX16 PEX11B HSD17B4
47 mulibrey nanism 10.3 PEX7 PEX5 PEX1
48 branchiootic syndrome 1 10.3
49 cataract 10.3
50 fundus dystrophy 10.2 PEX7 PEX6 PEX3 PEX26 PEX12 PEX1

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 1b:



Diseases related to Peroxisome Biogenesis Disorder 1b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 1b

Human phenotypes related to Peroxisome Biogenesis Disorder 1b:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
6 very long chain fatty acid accumulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008167
7 rod-cone dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000510
8 progressive muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003323
9 elevated levels of phytanic acid 58 31 hallmark (90%) Very frequent (99-80%) HP:0010571
10 constriction of peripheral visual field 31 hallmark (90%) HP:0001133
11 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
15 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
16 hypotonia 31 frequent (33%) HP:0001252
17 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
18 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
19 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
20 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
21 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
22 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
23 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
24 seizure 31 occasional (7.5%) HP:0001250
25 seizures 58 Occasional (29-5%)
26 muscular hypotonia 58 Frequent (79-30%)
27 hearing impairment 58 Frequent (79-30%)
28 wide nasal bridge 31 HP:0000431
29 delayed speech and language development 31 HP:0000750
30 visual impairment 58 Very frequent (99-80%)
31 neonatal hypotonia 31 HP:0001319
32 epiphyseal stippling 31 HP:0010655
33 epicanthus 31 HP:0000286
34 hepatic fibrosis 31 HP:0001395
35 cirrhosis 31 HP:0001394
36 abnormality of the face 58 Occasional (29-5%)
37 convex nasal ridge 31 HP:0000444
38 midface retrusion 31 HP:0011800
39 leukodystrophy 31 HP:0002415
40 psychomotor retardation 31 HP:0025356
41 renal cyst 31 HP:0000107
42 generalized hypotonia 31 HP:0001290
43 concentric narrowing of visual fields 58 Very frequent (99-80%)
44 hyperoxaluria 31 HP:0003159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
leukodystrophy
psychomotor retardation
developmental delay

Abdomen Liver:
hepatomegaly
hepatic fibrosis
cirrhosis

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
beaked nose

Head And Neck Ears:
hearing impairment

Head And Neck Eyes:
optic atrophy
epicanthal folds
retinitis pigmentosa

Head And Neck Face:
midface hypoplasia
dysmorphic features

Laboratory Abnormalities:
peroxisome biogenesis disorder complementation group 1, cg1
peroxisome biogenesis disorder complementation group e, cge
increased very long chain fatty acids (vlcfas)
varying degrees of catalase import into peroxisomes

Clinical features from OMIM®:

601539 (Updated 20-May-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 1b:


seizures; decreased tendon reflex

MGI Mouse Phenotypes related to Peroxisome Biogenesis Disorder 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 HSD17B4 PEX1 PEX10 PEX11B PEX13 PEX2
2 liver/biliary system MP:0005370 9.56 HSD17B4 PEX1 PEX11B PEX13 PEX2 PEX5
3 mortality/aging MP:0010768 9.44 CAT HSD17B4 PEX1 PEX10 PEX11B PEX13

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1b

Drugs for Peroxisome Biogenesis Disorder 1b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7, 6915-17-9 248
2 Liver Extracts Phase 3
3 Gastrointestinal Agents Phase 3
4 Antimetabolites Phase 3
5 Hypolipidemic Agents Phase 3
6 Lipid Regulating Agents Phase 3
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Tocopherol Approved, Investigational Phase 2 1406-66-2
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
16 Tocotrienol Investigational Phase 2 6829-55-6
17 Alpha-lipoic Acid Phase 2
18 Tocotrienols Phase 2
19 Antilymphocyte Serum Phase 2
20 Vitamins Phase 2
21 N-monoacetylcystine Phase 2
22 Thioctic Acid Phase 2
23 Tocopherols Phase 2
24
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
25
chenodeoxycholic acid Approved 474-25-9 10133
26 Cholic Acids
27 Bile Acids and Salts
28 Cathartics
29 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 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
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 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
5 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisome Biogenesis Disorder 1b

Cochrane evidence based reviews: refsum disease, infantile

Genetic Tests for Peroxisome Biogenesis Disorder 1b

Genetic tests related to Peroxisome Biogenesis Disorder 1b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorders 29
2 Peroxisome Biogenesis Disorder 1b 29 PEX1
3 Infantile Refsum's Disease 29 PEX12

Anatomical Context for Peroxisome Biogenesis Disorder 1b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 1b:

40
Eye, Liver, Brain, Cortex, Smooth Muscle, Fetal Liver, Kidney

Publications for Peroxisome Biogenesis Disorder 1b

Articles related to Peroxisome Biogenesis Disorder 1b:

(show top 50) (show all 233)
# Title Authors PMID Year
1
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 6 57 61
15098231 2004
2
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6 57 54
9398847 1997
3
Genetics and molecular basis of human peroxisome biogenesis disorders. 57 6
22871920 2012
4
Peroxisome biogenesis disorders. 57 6
17055079 2006
5
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 61 6 54
16086329 2005
6
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 54 6 61
14630978 2004
7
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 54 6 61
14571262 2004
8
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 54 61 6
12402331 2002
9
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 6 61
27090541 2016
10
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 61 6
16257970 2006
11
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 6 61
16088892 2005
12
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 6 54
16141001 2005
13
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 6 54
15184617 2004
14
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 61 6
12851857 2003
15
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 6 61
12794690 2003
16
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 6 61
11389485 2001
17
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 6 61
11439091 2001
18
Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. 6 54
10837480 2000
19
Infantile refsum disease in four Amish sibs. 61 57
10607947 2000
20
Genotype-phenotype correlations in disorders of peroxisome biogenesis. 61 6
10527683 1999
21
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 6 61
10528859 1999
22
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 54 6
10384394 1999
23
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. 6 54
10408779 1999
24
Identification of a common PEX1 mutation in Zellweger syndrome. 6 61
10447258 1999
25
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 54 6
9398848 1997
26
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 54 6
8940266 1996
27
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 6 54
8670792 1996
28
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 61 57
7541833 1995
29
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. 61 57
7533834 1995
30
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. 57 61
2445576 1987
31
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. 61 57
2430454 1986
32
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. 61 57
2429839 1986
33
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. 57 61
2426710 1986
34
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). 6
32399598 2020
35
Expanding the clinical and genetic spectrum of Heimler syndrome. 6
31831025 2019
36
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
37
Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia. 6
31227335 2019
38
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26. 6
30366024 2019
39
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 6
30640048 2019
40
The many faces of peroxisomal disorders: Lessons from a large Arab cohort. 6
30561787 2019
41
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival. 6
30078639 2019
42
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 6
29389947 2018
43
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 6
29220678 2017
44
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
45
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 6
27763634 2017
46
Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry. 6
28089346 2017
47
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 6
27124789 2016
48
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 6
27872819 2016
49
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 6
27302843 2016
50
Cholic acid therapy in Zellweger spectrum disorders. 6
27469511 2016

Variations for Peroxisome Biogenesis Disorder 1b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1b:

6 (show top 50) (show all 448)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX6 NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) SNV Pathogenic 643229 rs201306028 GRCh37: 6:42934283-42934283
GRCh38: 6:42966545-42966545
2 PEX6 NM_000287.4(PEX6):c.2439del (p.Arg814fs) Deletion Pathogenic 653703 rs1554126955 GRCh37: 6:42933451-42933451
GRCh38: 6:42965713-42965713
3 PEX6 NM_000287.4(PEX6):c.2667-2A>C SNV Pathogenic 575426 rs267608249 GRCh37: 6:42932669-42932669
GRCh38: 6:42964931-42964931
4 PEX6 NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) SNV Pathogenic 576022 rs781475201 GRCh37: 6:42934540-42934540
GRCh38: 6:42966802-42966802
5 PEX6 NC_000006.12:g.(?_42974865)_(42975048_?)del Deletion Pathogenic 830981 GRCh37: 6:42942603-42942786
GRCh38:
6 PEX6 NC_000006.12:g.(?_42968280)_(42979253_?)del Deletion Pathogenic 833404 GRCh37: 6:42936018-42946991
GRCh38:
7 PEX6 NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs) Microsatellite Pathogenic 837284 GRCh37: 6:42946651-42946652
GRCh38: 6:42978913-42978914
8 PEX6 NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) SNV Pathogenic 940761 GRCh37: 6:42941817-42941817
GRCh38: 6:42974079-42974079
9 PEX6 NM_000287.4(PEX6):c.685_686AG[4] (p.Ser232fs) Microsatellite Pathogenic 92790 rs398123305 GRCh37: 6:42946198-42946199
GRCh38: 6:42978460-42978461
10 PEX6 NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) SNV Pathogenic 942518 GRCh37: 6:42934361-42934361
GRCh38: 6:42966623-42966623
11 PEX6 NM_000287.4(PEX6):c.1688+1G>T SNV Pathogenic 962408 GRCh37: 6:42936027-42936027
GRCh38: 6:42968289-42968289
12 PEX6 NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) Indel Pathogenic 598162 rs62653602 GRCh37: 6:42933473-42933492
GRCh38: 6:42965735-42965754
13 PEX6 NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) SNV Pathogenic 954112 GRCh37: 6:42941797-42941797
GRCh38: 6:42974059-42974059
14 PEX6 NM_000287.4(PEX6):c.656del (p.Gln219fs) Deletion Pathogenic 958409 GRCh37: 6:42946233-42946233
GRCh38: 6:42978495-42978495
15 GATAD1 , PEX1 NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) Duplication Pathogenic 928943 GRCh37: 7:92122293-92122294
GRCh38: 7:92492979-92492980
16 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) SNV Pathogenic 371782 rs149806989 GRCh37: 7:92147282-92147282
GRCh38: 7:92517968-92517968
17 PEX6 NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) SNV Pathogenic 573090 rs1561823098 GRCh37: 6:42936682-42936682
GRCh38: 6:42968944-42968944
18 PEX26 NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) SNV Pathogenic 928563 GRCh37: 22:18566405-18566405
GRCh38: 22:18083639-18083639
19 PEX1 NM_000466.3(PEX1):c.2071+1G>T SNV Pathogenic 928942 GRCh37: 7:92134045-92134045
GRCh38: 7:92504731-92504731
20 PEX1 PEX1, 1-BP DEL, 2916A Deletion Pathogenic 7520 GRCh37:
GRCh38:
21 PEX6 NM_000287.4(PEX6):c.1947del (p.Ile650fs) Deletion Pathogenic 495796 rs267608227 GRCh37: 6:42934534-42934534
GRCh38: 6:42966796-42966796
22 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) Deletion Pathogenic 287499 rs764771123 GRCh37: 8:77896070-77896076
GRCh38: 8:76983834-76983840
23 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 GRCh37: 8:77896060-77896060
GRCh38: 8:76983824-76983824
24 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
25 PEX10 NM_153818.1(PEX10):c.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
26 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs) Deletion Pathogenic 139588 rs61752122 GRCh37: 8:77896132-77896136
GRCh38: 8:76983896-76983900
27 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) Deletion Pathogenic 224321 rs267608216 GRCh37: 6:42937452-42937459
GRCh38: 6:42969714-42969721
28 PEX6 NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) SNV Pathogenic 492968 rs61753230 GRCh37: 6:42933000-42933000
GRCh38: 6:42965262-42965262
29 PEX6 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) SNV Pathogenic 194165 rs267608241 GRCh37: 6:42933450-42933450
GRCh38: 6:42965712-42965712
30 PEX1 NM_000466.3(PEX1):c.130-2A>G SNV Pathogenic 635303 rs1585260993 GRCh37: 7:92151561-92151561
GRCh38: 7:92522247-92522247
31 GATAD1 , PEX1 NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) Microsatellite Pathogenic 188981 rs769836601 GRCh37: 7:92118678-92118681
GRCh38: 7:92489364-92489367
32 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) Deletion Pathogenic 813403 rs267608178 GRCh37: 7:92132492-92132496
GRCh38: 7:92503178-92503182
33 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) Duplication Pathogenic 93102 rs398123408 GRCh37: 7:92134156-92134157
GRCh38: 7:92504842-92504843
34 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) Microsatellite Pathogenic 188984 rs786204606 GRCh37: 7:92136394-92136395
GRCh38: 7:92507080-92507081
35 PEX1 NM_000466.3(PEX1):c.1126del (p.Glu376fs) Deletion Pathogenic 813450 rs751829426 GRCh37: 7:92146703-92146703
GRCh38: 7:92517389-92517389
36 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) Deletion Pathogenic 188910 rs749067142 GRCh37: 7:92147046-92147047
GRCh38: 7:92517732-92517733
37 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) SNV Pathogenic 810635 rs201415996 GRCh37: 7:92147524-92147524
GRCh38: 7:92518210-92518210
38 PEX1 NM_000466.3(PEX1):c.358-1G>T SNV Pathogenic 371714 rs1057517479 GRCh37: 7:92147570-92147570
GRCh38: 7:92518256-92518256
39 PEX1 NM_000466.3(PEX1):c.130-1G>T SNV Pathogenic 813453 rs1028247729 GRCh37: 7:92151560-92151560
GRCh38: 7:92522246-92522246
40 PEX6 NM_000287.4(PEX6):c.2082del (p.Gly695fs) Deletion Pathogenic 553235 rs766483138 GRCh37: 6:42934275-42934275
GRCh38: 6:42966537-42966537
41 PEX6 NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) Microsatellite Pathogenic 555544 rs1554128501 GRCh37: 6:42946501-42946504
GRCh38: 6:42978763-42978766
42 PEX10 NM_153818.1(PEX10):c.600+1G>A SNV Pathogenic 6770 rs267608183 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
43 PEX1 NM_000466.3(PEX1):c.2T>C (p.Met1Thr) SNV Pathogenic 371746 rs766020928 GRCh37: 7:92157748-92157748
GRCh38: 7:92528434-92528434
44 PEX6 NM_000287.4(PEX6):c.517del (p.Ser173fs) Deletion Pathogenic 557701 rs61753212 GRCh37: 6:42946372-42946372
GRCh38: 6:42978634-42978634
45 PEX6 NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) SNV Pathogenic 217424 rs61753219 GRCh37: 6:42946068-42946068
GRCh38: 6:42978330-42978330
46 PEX1 NM_000466.3(PEX1):c.1108dup (p.Ile370fs) Duplication Pathogenic 644707 rs61750406 GRCh37: 7:92146720-92146721
GRCh38: 7:92517406-92517407
47 PEX1 NM_000466.3(PEX1):c.2730del (p.Leu910fs) Deletion Pathogenic 188971 rs61750423 GRCh37: 7:92126080-92126080
GRCh38: 7:92496766-92496766
48 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) Deletion Pathogenic 188910 rs749067142 GRCh37: 7:92147046-92147047
GRCh38: 7:92517732-92517733
49 PEX1 NM_000466.3(PEX1):c.1842del (p.Glu615fs) Deletion Pathogenic 371703 rs267608176 GRCh37: 7:92135620-92135620
GRCh38: 7:92506306-92506306
50 GATAD1 , PEX1 NM_000466.3(PEX1):c.2926+1G>A SNV Pathogenic 188729 rs267608179 GRCh37: 7:92123800-92123800
GRCh38: 7:92494486-92494486

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 1b:

72
# Symbol AA change Variation ID SNP ID
1 PEX1 p.Leu664Pro VAR_008876 rs121434455
2 PEX1 p.Gly843Asp VAR_008877 rs61750420
3 PEX1 p.Ile989Thr VAR_077503 rs61750427
4 PEX1 p.Arg998Gln VAR_077504 rs61750429

Expression for Peroxisome Biogenesis Disorder 1b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 1b.

Pathways for Peroxisome Biogenesis Disorder 1b

Pathways related to Peroxisome Biogenesis Disorder 1b according to KEGG:

36
# Name Kegg Source Accession
1 Peroxisome hsa04146

Pathways related to Peroxisome Biogenesis Disorder 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.47 PIPOX PEX7 PEX6 PEX5 PEX3 PEX26

GO Terms for Peroxisome Biogenesis Disorder 1b

Cellular components related to Peroxisome Biogenesis Disorder 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 PLCH2 PHEX PEX6 PEX5 PEX3 PEX26
2 protein-containing complex GO:0032991 9.88 PEX5 PEX3 PEX19 PEX14 PEX11B CAT
3 peroxisomal membrane GO:0005778 9.86 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
4 integral component of peroxisomal membrane GO:0005779 9.76 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
5 peroxisomal matrix GO:0005782 9.65 PIPOX PEX7 PEX5 HSD17B4 CAT
6 peroxisome GO:0005777 9.55 PIPOX PEX7 PEX6 PEX5 PEX3 PEX26
7 peroxisomal importomer complex GO:1990429 9.5 PEX14 PEX13 PEX12

Biological processes related to Peroxisome Biogenesis Disorder 1b according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.99 PEX7 PEX5 PEX26 PEX14 PEX13 PEX1
2 protein ubiquitination GO:0016567 9.97 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
3 protein import into peroxisome matrix GO:0016558 9.85 PEX7 PEX6 PEX5 PEX26 PEX2 PEX16
4 fatty acid beta-oxidation GO:0006635 9.73 PEX7 PEX5 PEX2 HSD17B4
5 peroxisome organization GO:0007031 9.73 PEX7 PEX6 PEX5 PEX3 PEX2 PEX19
6 neuron migration GO:0001764 9.72 PEX7 PEX5 PEX13
7 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
8 very long-chain fatty acid metabolic process GO:0000038 9.63 PEX5 PEX2 HSD17B4
9 protein import into peroxisome matrix, docking GO:0016560 9.58 PEX5 PEX14 PEX13
10 peroxisome fission GO:0016559 9.54 PEX19 PEX11B
11 peroxisome membrane biogenesis GO:0016557 9.54 PEX3 PEX19 PEX16
12 cerebral cortex cell migration GO:0021795 9.52 PEX5 PEX13
13 protein import into peroxisome matrix, translocation GO:0016561 9.5 PEX6 PEX5 PEX14
14 protein targeting to peroxisome GO:0006625 9.5 PIPOX PEX7 PEX6 PEX5 PEX26 PEX2
15 microtubule-based peroxisome localization GO:0060152 9.48 PEX13 PEX1

Molecular functions related to Peroxisome Biogenesis Disorder 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.43 PEX5 PEX19 PEX14
2 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
3 peroxisome targeting sequence binding GO:0000268 9.16 PEX5 CAT
4 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19

Sources for Peroxisome Biogenesis Disorder 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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