PBD1B
MCID: PRX045
MIFTS: 61

Peroxisome Biogenesis Disorder 1b (PBD1B)

Categories: Endocrine 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 74 29 13 6
Infantile Refsum Disease 12 54 59 74 37 15 72
Peroxisome Biogenesis Disorder 57 59 74 37 6 40
Infantile Phytanic Acid Storage Disease 57 12 54 74
Peroxisome Biogenesis Disorders 29 55
Infantile Refsum's Disease 29 6
Refsum Disease, Infantile 57 44
Pbd1b 57 74
Adrenoleukodystrophy, Autosomal Neonatal 57
Peroxisome Biogenesis Disorder Spectrum 59
Autosomal Neonatal Adrenoleukodystrophy 74
Peroxisome Biogenesis Disorder, Type 1b 40
Refsum Disease - Infantile 54
Refsum Disease Infantile 55
Ird 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
survival into adulthood
disorder is progressive in some patients


HPO:

32
peroxisome biogenesis disorder 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050444
MeSH 44 D052919
NCIt 50 C84789
ICD10 33 G60.1
MESH via Orphanet 45 C536664 D052919
ICD10 via Orphanet 34 G60.1
UMLS via Orphanet 73 C0282527 C1832200
UMLS 72 C0282527

Summaries for Peroxisome Biogenesis Disorder 1b

NINDS : 54 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 11a and peroxisome biogenesis disorder 1a, 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 Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, eye 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)

KEGG : 37
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 : 74 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 128)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 11a 35.2 PEX13 PEX1 GATAD1
2 peroxisome biogenesis disorder 1a 35.2 PEX10 PEX1
3 peroxisome biogenesis disorder 11b 35.1 PEX13 PEX1 GATAD1
4 zellweger spectrum disorder 32.6 PEX6 PEX3 PEX2 PEX16 PEX12 PEX10
5 rhizomelic chondrodysplasia punctata, type 3 32.5 PEX7 PEX5 GNPAT
6 rhizomelic chondrodysplasia punctata 32.4 PEX7 PEX5 PEX26 GNPAT
7 rhizomelic chondrodysplasia punctata, type 1 32.1 PHEX PEX7 PEX5 PEX2 PEX12 HSD17B4
8 adrenoleukodystrophy 32.0 PEX6 PEX5 PEX26 PEX19 PEX10 PEX1
9 rhizomelic chondrodysplasia punctata, type 2 31.6 PHEX PEX7 PEX5 GNPAT CAT
10 deafness enamel hypoplasia nail defects 31.2 PEX6 PEX1 GATAD1
11 zellweger syndrome 30.7 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 chondrodysplasia punctata syndrome 30.7 PEX7 PEX5 GNPAT
13 refsum disease, classic 30.2 PEX7 PEX5 PEX16 PEX14 HSD17B4 GNPAT
14 rhizomelic chondrodysplasia punctata, type 5 29.4 PHEX PEX7 PEX5 GNPAT
15 peroxisomal disease 29.4 PEX7 PEX5 PEX2 PEX1 HSD17B4 GNPAT
16 neonatal adrenoleukodystrophy 27.6 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
17 peroxisome biogenesis disorder 4a 13.0
18 peroxisome biogenesis disorder 5a 13.0
19 peroxisome biogenesis disorder 6a 13.0
20 peroxisome biogenesis disorder 2a 13.0
21 peroxisome biogenesis disorder 12a 13.0
22 peroxisome biogenesis disorder 10a 13.0
23 peroxisome biogenesis disorder 3a 13.0
24 peroxisome biogenesis disorder 7a 13.0
25 peroxisome biogenesis disorder 13a 13.0
26 peroxisome biogenesis disorder 8a 13.0
27 peroxisome biogenesis disorder 9b 13.0
28 peroxisome biogenesis disorder 6b 12.9
29 peroxisome biogenesis disorder 5b 12.9
30 peroxisome biogenesis disorder 7b 12.9
31 peroxisome biogenesis disorder 4b 12.9
32 peroxisome biogenesis disorder 8b 12.9
33 peroxisome biogenesis disorder 3b 12.9
34 peroxisome biogenesis disorder 2b 12.9
35 peroxisome biogenesis disorder 10b 12.9
36 peroxisomal biogenesis disorder 12.8
37 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.7
38 heimler syndrome 1 12.4
39 heimler syndrome 2 12.4
40 refsum disease, infantile form 11.9
41 respiratory distress syndrome in premature infants 11.5
42 respiratory distress syndrome, infant 11.3
43 peroxisome biogenesis disorder 14b 11.2
44 adrenomyeloneuropathy 10.7
45 pneumothorax 10.5
46 bronchopulmonary dysplasia 10.5
47 branchiootic syndrome 1 10.4
48 hypotonia 10.4
49 ataxia and polyneuropathy, adult-onset 10.3
50 interstitial emphysema 10.3

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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
6 rod-cone dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000510
7 very long chain fatty acid accumulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008167
8 progressive muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003323
9 elevated levels of phytanic acid 59 32 hallmark (90%) Very frequent (99-80%) HP:0010571
10 constriction of peripheral visual field 32 hallmark (90%) HP:0001133
11 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
12 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
13 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
14 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
15 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
16 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
17 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
20 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
21 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
22 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
23 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
24 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
25 hearing impairment 59 Frequent (79-30%)
26 wide nasal bridge 32 HP:0000431
27 delayed speech and language development 32 HP:0000750
28 visual impairment 59 Very frequent (99-80%)
29 neonatal hypotonia 32 HP:0001319
30 generalized hypotonia 32 HP:0001290
31 epicanthus 32 HP:0000286
32 cirrhosis 32 HP:0001394
33 epiphyseal stippling 32 HP:0010655
34 hepatic fibrosis 32 HP:0001395
35 abnormality of the face 59 Occasional (29-5%)
36 midface retrusion 32 HP:0011800
37 convex nasal ridge 32 HP:0000444
38 leukodystrophy 32 HP:0002415
39 renal cyst 32 HP:0000107
40 hyperoxaluria 32 HP:0003159
41 concentric narrowing of visual fields 59 Very frequent (99-80%)
42 psychomotor retardation 32 HP:0025356

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
leukodystrophy
psychomotor retardation
developmental delay

Abdomen Liver:
hepatomegaly
cirrhosis
hepatic fibrosis

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

UMLS symptoms related to Peroxisome Biogenesis Disorder 1b:


seizures, decreased tendon reflex

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CAT GATAD1 GNPAT HSD17B4 PEX1 PEX10

MGI Mouse Phenotypes related to Peroxisome Biogenesis Disorder 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B
2 growth/size/body region MP:0005378 10.06 GNPAT HSD17B4 PEX1 PEX10 PEX11B PEX13
3 endocrine/exocrine gland MP:0005379 9.97 GNPAT HSD17B4 PEX13 PEX2 PEX3 PEX5
4 mortality/aging MP:0010768 9.77 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B
5 liver/biliary system MP:0005370 9.76 HSD17B4 PEX1 PEX11B PEX13 PEX2 PEX5
6 nervous system MP:0003631 9.32 GNPAT 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 34)
# 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 Cholic Acids Phase 3
4 Bile Acids and Salts Phase 3
5 Liver Extracts Phase 3
6 Antimetabolites Phase 3
7 Lipid Regulating Agents Phase 3
8 Hypolipidemic Agents Phase 3
9
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
rituximab Approved Phase 2 174722-31-7 10201696
14
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Alkylating Agents Phase 2
20 Tocotrienols Phase 2
21 Alpha-lipoic Acid Phase 2
22 Antilymphocyte Serum Phase 2
23 Tocopherols Phase 2
24 N-monoacetylcystine Phase 2
25 Immunosuppressive Agents Phase 2
26 Vitamins Phase 2
27 Thioctic Acid Phase 2
28 Immunologic Factors Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Antineoplastic Agents, Alkylating Phase 2
31
chenodeoxycholic acid Approved 474-25-9 10133
32
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
33 Cathartics
34 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 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 Infantile Refsum's Disease 29
2 Peroxisome Biogenesis Disorders 29
3 Peroxisome Biogenesis Disorder 1b 29 PEX1

Anatomical Context for Peroxisome Biogenesis Disorder 1b

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

41
Liver, Eye, Brain, Bone, Kidney, Skin, Cortex

Publications for Peroxisome Biogenesis Disorder 1b

Articles related to Peroxisome Biogenesis Disorder 1b:

(show top 50) (show all 171)
# Title Authors PMID Year
1
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 9 38 71
12402331 2002
2
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 38 8
15098231 2004
3
Zellweger Spectrum Disorder 38 71
20301621 2003
4
Infantile refsum disease in four Amish sibs. 38 8
10607947 2000
5
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9 8
9398847 1997
6
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 38 8
7541833 1995
7
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. 38 8
7533834 1995
8
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. 38 8
2445576 1987
9
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. 38 8
2430454 1986
10
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. 38 8
2426710 1986
11
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. 38 8
2429839 1986
12
Genetics and molecular basis of human peroxisome biogenesis disorders. 8
22871920 2012
13
Peroxisome biogenesis disorders. 8
17055079 2006
14
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). 8
14974078 2004
15
PEX genes on the rise. 8
9090374 1997
16
Peroxisome biogenesis. 8
9008417 1997
17
A unified nomenclature for peroxisome biogenesis factors. 8
8858157 1996
18
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. 8
7605563 1993
19
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. 8
1700075 1990
20
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 8
2454948 1988
21
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. 8
3469675 1987
22
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. 8
3515938 1986
23
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. 8
2419755 1986
24
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases. 8
2427794 1986
25
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. 8
2427795 1986
26
Absence of hepatic peroxisomes in a case of infantile Refsum's disease. 8
2417305 1985
27
Antenatal diagnosis of infantile Refsum's disease. 8
2408795 1985
28
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? 8
6209040 1984
29
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. 8
6517102 1984
30
Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. 8
6207587 1984
31
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. 8
6709009 1984
32
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. 8
6188882 1982
33
Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings. 8
7299546 1981
34
New form of adrenoleukodystrophy. 8
7287005 1981
35
Metabolic pathways in peroxisomes and glyoxysomes. 8
7023357 1981
36
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 9 38
16086329 2005
37
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 9 38
14630978 2004
38
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 9 38
14571262 2004
39
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. 9 38
10960480 2000
40
Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1. 9 38
11004248 2000
41
Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. 9 38
10462504 1999
42
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. 9 38
9671729 1998
43
Biogenesis of peroxisomes in fetal liver. 9 38
9408912 1997
44
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). 38
29482424 2018
45
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up. 38
29453832 2018
46
Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. 38
27886192 2017
47
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. 38
27221287 2016
48
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 38
27090541 2016
49
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. 38
26303611 2016
50
Audiological findings in Infantile Refsum disease. 38
26055198 2015

Variations for Peroxisome Biogenesis Disorder 1b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1b:

6 (show top 50) (show all 150)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PEX1 NM_000466.3(PEX1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs766020928 7:92157748-92157748 7:92528434-92528434
2 PEX12 NM_000286.3(PEX12): c.126+1G> T single nucleotide variant Pathogenic rs144259891 17:33904914-33904914 17:35577895-35577895
3 PEX6 NM_000287.4(PEX6): c.2578C> T (p.Arg860Trp) single nucleotide variant Pathogenic rs61753230 6:42933000-42933000 6:42965262-42965262
4 PEX6 NM_000287.4(PEX6): c.1947del (p.Ile650fs) deletion Pathogenic rs267608227 6:42934534-42934534 6:42966796-42966796
5 PEX12 NM_000286.3(PEX12): c.604C> T (p.Arg202Ter) single nucleotide variant Pathogenic rs61752105 17:33904133-33904133 17:35577114-35577114
6 PEX12 NM_000286.3(PEX12): c.744dup (p.Thr249fs) duplication Pathogenic rs61752108 17:33903136-33903136 17:35576118-35576118
7 PEX26 NM_017929.6(PEX26): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs62641228 22:18562701-18562701 22:18079935-18079935
8 PEX26 NM_017929.6(PEX26): c.34dup (p.Leu12fs) duplication Pathogenic rs61752129 22:18561176-18561176 22:18078410-18078410
9 PEX10 NM_153818.1(PEX10): c.764dup (p.Leu256fs) duplication Pathogenic rs61750435 1:2338231-2338231 1:2406792-2406792
10 PEX1 NM_000466.3(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 7:92130876-92130876 7:92501562-92501562
11 PEX1 NM_000466.3(PEX1): c.2097dup (p.Ile700fs) duplication Pathogenic rs61750415 7:92132484-92132484 7:92503170-92503170
12 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
13 PEX12 NM_000286.3(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 17:33904199-33904199 17:35577180-35577180
14 PEX2 NM_001079867.1(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 8:77896060-77896060 8:76983824-76983824
15 PEX12 NM_000286.3(PEX12): c.886_887CT[1] (p.Leu297fs) short repeat Pathogenic rs398123301 17:33902992-33902993 17:35575973-35575974
16 PEX1 NM_000466.3(PEX1): c.1952_1960dup (p.Met654_Gln655insThrValTrp) duplication Pathogenic rs398123408 7:92134157-92134165 7:92504843-92504851
17 PEX2 NM_001079867.1(PEX2): c.279_283del (p.Arg94fs) deletion Pathogenic rs61752122 8:77896132-77896136 8:76983896-76983900
18 PEX1 NM_000466.3(PEX1): c.3379dup (p.Arg1127fs) duplication Pathogenic rs794729652 7:92120645-92120645 7:92491331-92491331
19 PEX6 NM_000287.4(PEX6): c.1314_1321del (p.Glu439fs) deletion Pathogenic rs267608216 6:42937452-42937459 6:42969714-42969721
20 PEX10 NM_153818.1(PEX10): c.874_875del (p.Leu292fs) deletion Pathogenic rs61752093 1:2338020-2338021 1:2406581-2406582
21 PEX6 NM_000287.4(PEX6): c.1941C> A (p.Cys647Ter) single nucleotide variant Pathogenic 6:42934540-42934540 6:42966802-42966802
22 PEX6 NM_000287.4(PEX6): c.2667-2A> C single nucleotide variant Pathogenic 6:42932669-42932669 6:42964931-42964931
23 PEX1 NM_000466.3(PEX1): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic 7:92131252-92131252 7:92501938-92501938
24 PEX1 NM_000466.3(PEX1): c.130-2A> G single nucleotide variant Pathogenic 7:92151561-92151561 7:92522247-92522247
25 PEX6 NM_000287.4(PEX6): c.2439del (p.Arg814fs) deletion Pathogenic 6:42933451-42933451 6:42965717-42965717
26 PEX6 NM_000287.4(PEX6): c.2074C> T (p.Gln692Ter) single nucleotide variant Pathogenic 6:42934283-42934283 6:42966545-42966545
27 PEX2 NM_001079867.1(PEX2): c.339_345del (p.Gly113_Arg114insTer) deletion Pathogenic/Likely pathogenic rs764771123 8:77896070-77896076 8:76983834-76983840
28 PEX1 NM_000466.3(PEX1): c.2916del (p.Gly973fs) deletion Pathogenic/Likely pathogenic rs61750426 7:92123811-92123811 7:92494497-92494497
29 PEX12 NM_000286.3(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 17:33904403-33904403 17:35577384-35577384
30 PEX6 NM_000287.4(PEX6): c.2440C> T (p.Arg814Ter) single nucleotide variant Pathogenic/Likely pathogenic rs267608241 6:42933450-42933450 6:42965712-42965712
31 PEX12 NM_000286.3(PEX12): c.894del (p.Lys299_Met300insTer) deletion Pathogenic/Likely pathogenic rs398123302 17:33902987-33902987 17:35575968-35575968
32 PEX12 NM_000286.3(PEX12): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61752106 17:33904112-33904112 17:35577093-35577093
33 PEX1 NM_000466.3(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750428 7:92123645-92123645 7:92494331-92494331
34 PEX12 NM_000286.3(PEX12): c.268_271del (p.Lys90fs) deletion Pathogenic/Likely pathogenic rs61752100 17:33904466-33904469 17:35577447-35577450
35 PEX12 NM_000286.3(PEX12): c.530_532AAC[1] (p.Gln178del) short repeat Pathogenic/Likely pathogenic rs61752102 17:33904202-33904204 17:35577183-35577185
36 PEX2 NM_001079867.1(PEX2): c.373C> T (p.Arg125Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61752124 8:77896042-77896042 8:76983806-76983806
37 PEX1 NM_000466.3(PEX1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057517501 7:92157749-92157749 7:92528435-92528435
38 PEX12 NM_000286.3(PEX12): c.730_733dup (p.Leu245fs) duplication Pathogenic/Likely pathogenic rs61752107 17:33903148-33903151 17:35576129-35576132
39 PEX1 NM_000466.3(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 7:92120817-92120817 7:92491503-92491503
40 PEX1 NM_000466.3(PEX1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766020928 7:92157748-92157748 7:92528434-92528434
41 PEX1 NM_000466.3(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 7:92119090-92119090 7:92489776-92489776
42 PEX1 NM_000466.3(PEX1): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic/Likely pathogenic rs149806989 7:92147282-92147282 7:92517968-92517968
43 PEX1 NM_000466.3(PEX1): c.2922del (p.Leu974fs) deletion Pathogenic/Likely pathogenic rs762324548 7:92123805-92123805 7:92494491-92494491
44 PEX1 NM_000466.3(PEX1): c.1908del (p.Arg636fs) deletion Pathogenic/Likely pathogenic rs1057517478 7:92134209-92134209 7:92504895-92504895
45 PEX1 NM_000466.3(PEX1): c.1842del (p.Glu615fs) deletion Likely pathogenic rs267608176 7:92135620-92135620 7:92506306-92506306
46 PEX1 NM_000466.3(PEX1): c.1765G> T (p.Gly589Ter) single nucleotide variant Likely pathogenic rs1057517489 7:92136346-92136346 7:92507032-92507032
47 PEX1 NM_000466.3(PEX1): c.1670+1G> T single nucleotide variant Likely pathogenic rs1057517490 7:92138642-92138642 7:92509328-92509328
48 PEX1 NM_000466.3(PEX1): c.1670+1G> A single nucleotide variant Likely pathogenic rs1057517490 7:92138642-92138642 7:92509328-92509328
49 PEX1 NM_000466.3(PEX1): c.1587+1G> A single nucleotide variant Likely pathogenic rs1057517469 7:92140257-92140257 7:92510943-92510943
50 PEX1 NM_000466.3(PEX1): c.1528G> T (p.Glu510Ter) single nucleotide variant Likely pathogenic rs754983126 7:92140317-92140317 7:92511003-92511003

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

74
# 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:

37
# 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 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2

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 peroxisome GO:0005777 9.89 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
2 protein-containing complex GO:0032991 9.8 PEX5 PEX3 PEX19 PEX14 PEX11B
3 integral component of peroxisomal membrane GO:0005779 9.7 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
4 peroxisomal matrix GO:0005782 9.62 PEX7 HSD17B4 GNPAT CAT
5 peroxisomal membrane GO:0005778 9.55 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
6 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12
7 membrane GO:0016020 10.3 PHEX PEX6 PEX5 PEX3 PEX26 PEX2

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

(show all 19)
# 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 neuron migration GO:0001764 9.74 PEX7 PEX5 PEX13
5 peroxisome organization GO:0007031 9.73 PEX7 PEX6 PEX5 PEX3 PEX2 PEX19
6 fatty acid beta-oxidation GO:0006635 9.67 PEX7 PEX5 PEX2 HSD17B4
7 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
8 cellular lipid metabolic process GO:0044255 9.58 PEX5 GNPAT
9 response to fatty acid GO:0070542 9.58 GNPAT CAT
10 very long-chain fatty acid metabolic process GO:0000038 9.56 PEX2 HSD17B4
11 cerebral cortex cell migration GO:0021795 9.55 PEX5 PEX13
12 peroxisome fission GO:0016559 9.54 PEX19 PEX11B
13 ether lipid biosynthetic process GO:0008611 9.52 PEX7 GNPAT
14 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX5 PEX14 PEX13
15 protein targeting to peroxisome GO:0006625 9.5 PEX7 PEX6 PEX5 PEX26 PEX2 PEX19
16 peroxisome membrane biogenesis GO:0016557 9.48 PEX3 PEX16
17 protein import into peroxisome matrix, translocation GO:0016561 9.46 PEX6 PEX14
18 negative regulation of protein homotetramerization GO:1901094 9.43 PEX5 PEX14
19 microtubule-based peroxisome localization GO:0060152 9.4 PEX13 PEX1

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.26 PEX14 CAT
2 ATPase activity, coupled GO:0042623 9.16 PEX6 PEX1
3 protein N-terminus binding GO:0047485 9.13 PEX5 PEX19 PEX14
4 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1

Sources for Peroxisome Biogenesis Disorder 1b

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
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51 NDF-RT
54 NINDS
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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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