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 56 73 29 13 6
Infantile Refsum Disease 12 53 58 73 36 15 71
Peroxisome Biogenesis Disorder 56 58 73 36 6 39
Infantile Phytanic Acid Storage Disease 56 12 53 73
Peroxisome Biogenesis Disorders 29 54
Infantile Refsum's Disease 29 6
Refsum Disease, Infantile 56 43
Pbd1b 56 73
Adrenoleukodystrophy, Autosomal Neonatal 56
Peroxisome Biogenesis Disorder Spectrum 58
Autosomal Neonatal Adrenoleukodystrophy 73
Peroxisome Biogenesis Disorder, Type 1b 39
Refsum Disease - Infantile 53
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:

56
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 1a and heimler syndrome 1, 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 global developmental delay and hepatomegaly

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 : 56 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 : 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 : 73 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 127)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1a 34.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
2 heimler syndrome 1 34.5 PEX6 PEX1
3 rhizomelic chondrodysplasia punctata, type 1 34.2 PEX7 PEX6 PEX5 PEX13 HSD17B4
4 peroxisomal biogenesis disorder 33.6 SLC25A17 PHEX PEX7 PEX6 PEX5 PEX3
5 zellweger spectrum disorder 33.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
6 rhizomelic chondrodysplasia punctata, type 2 33.1 PEX7 PEX5 PEX16 PEX13
7 rhizomelic chondrodysplasia punctata, type 3 33.1 PEX7 PEX5
8 zellweger syndrome 32.7 SLC25A17 PIPOX PHEX PEX7 PEX6 PEX5
9 adrenoleukodystrophy 32.2 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
10 rhizomelic chondrodysplasia punctata 32.1 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
11 refsum disease, classic 31.5 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
12 neonatal adrenoleukodystrophy 30.9 PEX7 PEX6 PEX5 PEX3 PEX26 PEX2
13 chondrodysplasia punctata syndrome 30.9 SLC25A17 PEX7 PEX6 PEX5 PEX26 PEX2
14 sensorineural hearing loss 30.7 PEX6 PEX26 PEX12 PEX10 PEX1
15 rhizomelic chondrodysplasia punctata, type 5 30.6 PEX7 PEX5
16 peroxisomal disease 30.2 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
17 leukodystrophy 30.2 SLC25A17 PEX6 PEX5 PEX3 PEX26 PEX2
18 peroxisome biogenesis disorder 4a 13.0
19 peroxisome biogenesis disorder 5a 13.0
20 peroxisome biogenesis disorder 2a 13.0
21 peroxisome biogenesis disorder 11a 13.0
22 peroxisome biogenesis disorder 6a 13.0
23 peroxisome biogenesis disorder 12a 13.0
24 peroxisome biogenesis disorder 10a 13.0
25 peroxisome biogenesis disorder 3a 13.0
26 peroxisome biogenesis disorder 7a 13.0
27 peroxisome biogenesis disorder 13a 13.0
28 peroxisome biogenesis disorder 8a 13.0
29 peroxisome biogenesis disorder 6b 13.0
30 peroxisome biogenesis disorder 11b 13.0
31 peroxisome biogenesis disorder 5b 13.0
32 peroxisome biogenesis disorder 7b 13.0
33 peroxisome biogenesis disorder 4b 12.9
34 peroxisome biogenesis disorder 8b 12.9
35 peroxisome biogenesis disorder 2b 12.9
36 peroxisome biogenesis disorder 3b 12.9
37 peroxisome biogenesis disorder 9b 12.9
38 peroxisome biogenesis disorder 10b 12.8
39 heimler syndrome 2 12.5
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 mulibrey nanism 10.5 PEX7 PEX5 PEX1
48 hypomagnesemia 1, intestinal 10.5 PEX26 PEX1
49 acatalasemia 10.4 SLC25A17 PEX5 PEX3 CAT
50 branchiootic syndrome 1 10.4

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 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
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 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
12 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
13 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
14 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
15 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
16 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
17 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
18 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
19 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
20 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
21 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
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 hearing impairment 58 Frequent (79-30%)
26 wide nasal bridge 31 HP:0000431
27 delayed speech and language development 31 HP:0000750
28 seizures 58 Occasional (29-5%)
29 visual impairment 58 Very frequent (99-80%)
30 neonatal hypotonia 31 HP:0001319
31 epiphyseal stippling 31 HP:0010655
32 cirrhosis 31 HP:0001394
33 epicanthus 31 HP:0000286
34 hepatic fibrosis 31 HP:0001395
35 abnormality of the face 58 Occasional (29-5%)
36 convex nasal ridge 31 HP:0000444
37 midface retrusion 31 HP:0011800
38 leukodystrophy 31 HP:0002415
39 renal cyst 31 HP:0000107
40 generalized hypotonia 31 HP:0001290
41 concentric narrowing of visual fields 58 Very frequent (99-80%)
42 hyperoxaluria 31 HP:0003159
43 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing impairment

Neurologic Central Nervous System:
seizures
leukodystrophy
psychomotor retardation
developmental delay

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
beaked nose

Abdomen Liver:
hepatomegaly
cirrhosis
hepatic fibrosis

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 Decreased viability GR00240-S-1 9.58 PEX16 PEX26
2 Decreased viability GR00249-S 9.58 PEX3 PIPOX SLC25A17
3 Decreased viability GR00386-A-1 9.58 PEX13 PEX16 PEX19 PEX26 PIPOX SLC25A17
4 Decreased viability GR00402-S-2 9.58 PEX10 PEX12 PEX13 PEX2 PEX26 PEX7

MGI Mouse Phenotypes related to Peroxisome Biogenesis Disorder 1b:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 CAT HSD17B4 PEX1 PEX10 PEX11B PEX13
2 endocrine/exocrine gland MP:0005379 9.86 HSD17B4 PEX1 PEX13 PEX2 PEX3 PEX5
3 liver/biliary system MP:0005370 9.56 HSD17B4 PEX1 PEX11B PEX13 PEX2 PEX5
4 mortality/aging MP:0010768 9.4 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 3 107-43-7 247
2 Gastrointestinal Agents Phase 3
3 Cholic Acids Phase 3
4 Bile Acids and Salts Phase 3
5 Liver Extracts Phase 3
6 Hypolipidemic Agents Phase 3
7 Lipid Regulating Agents Phase 3
8 Antimetabolites Phase 3
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
12
rituximab Approved Phase 2 174722-31-7 10201696
13
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Alpha-lipoic Acid Phase 2
20 Vitamins Phase 2
21 Thioctic Acid Phase 2
22 Tocopherols Phase 2
23 Tocotrienols Phase 2
24 N-monoacetylcystine Phase 2
25 Antilymphocyte Serum Phase 2
26
chenodeoxycholic acid Approved 474-25-9 10133
27
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
28 Laxatives
29 Cathartics

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 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
Liver, Eye, Brain, Bone, Kidney, Fetal Liver

Publications for Peroxisome Biogenesis Disorder 1b

Articles related to Peroxisome Biogenesis Disorder 1b:

(show top 50) (show all 116)
# Title Authors PMID Year
1
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 54 56
9398847 1997
2
Genetics and molecular basis of human peroxisome biogenesis disorders. 56
22871920 2012
3
Peroxisome biogenesis disorders. 56
17055079 2006
4
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 56
15098231 2004
5
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). 56
14974078 2004
6
Zellweger Spectrum Disorder 6
20301621 2003
7
Infantile refsum disease in four Amish sibs. 56
10607947 2000
8
PEX genes on the rise. 56
9090374 1997
9
Peroxisome biogenesis. 56
9008417 1997
10
A unified nomenclature for peroxisome biogenesis factors. 56
8858157 1996
11
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 56
7541833 1995
12
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. 56
7533834 1995
13
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy. 56
7605563 1993
14
Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report. 56
1700075 1990
15
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 56
2454948 1988
16
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. 56
2445576 1987
17
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy. 56
3469675 1987
18
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. 56
2430454 1986
19
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. 56
2426710 1986
20
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. 56
2429839 1986
21
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. 56
3515938 1986
22
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. 56
2419755 1986
23
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases. 56
2427794 1986
24
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. 56
2427795 1986
25
Absence of hepatic peroxisomes in a case of infantile Refsum's disease. 56
2417305 1985
26
Antenatal diagnosis of infantile Refsum's disease. 56
2408795 1985
27
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy. 56
6517102 1984
28
Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? 56
6209040 1984
29
Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome. 56
6207587 1984
30
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. 56
6709009 1984
31
Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. 56
6188882 1982
32
Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings. 56
7299546 1981
33
New form of adrenoleukodystrophy. 56
7287005 1981
34
Metabolic pathways in peroxisomes and glyoxysomes. 56
7023357 1981
35
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. 54 61
18712838 2009
36
Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder. 54 61
15184617 2004
37
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 54 61
14630978 2004
38
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 54 61
14571262 2004
39
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 61 54
12402331 2002
40
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 54 61
12325024 2002
41
Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder. 54 61
10960480 2000
42
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. 54 61
10673331 2000
43
Localization of a portion of extranuclear ATM to peroxisomes. 61 54
10567403 1999
44
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. 54 61
10408779 1999
45
Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. 54 61
9878256 1998
46
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans. 61 54
8940266 1996
47
The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 61 54
8670792 1996
48
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing. 61
31724321 2020
49
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina. 61
32003821 2020
50
Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics. 61
31555682 2019

Variations for Peroxisome Biogenesis Disorder 1b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1b:

6 (show top 50) (show all 267) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX6 NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)SNV Pathogenic 492968 rs61753230 6:42933000-42933000 6:42965262-42965262
2 PEX6 NM_000287.4(PEX6):c.1947del (p.Ile650fs)deletion Pathogenic 495796 rs267608227 6:42934534-42934534 6:42966796-42966796
3 PEX12 NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)SNV Pathogenic 551647 rs61752105 17:33904133-33904133 17:35577114-35577114
4 PEX6 NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)SNV Pathogenic 576022 rs781475201 6:42934540-42934540 6:42966802-42966802
5 PEX6 NM_000287.4(PEX6):c.2667-2A>CSNV Pathogenic 575426 rs267608249 6:42932669-42932669 6:42964931-42964931
6 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)SNV Pathogenic 632939 rs61750417 7:92131252-92131252 7:92501938-92501938
7 PEX1 NM_000466.3(PEX1):c.130-2A>GSNV Pathogenic 635303 7:92151561-92151561 7:92522247-92522247
8 PEX6 NM_000287.4(PEX6):c.2439del (p.Arg814fs)deletion Pathogenic 653703 6:42933451-42933451 6:42965713-42965713
9 PEX6 NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)SNV Pathogenic 643229 6:42934283-42934283 6:42966545-42966545
10 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)SNV Pathogenic 810635 7:92147524-92147524 7:92518210-92518210
11 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)deletion Pathogenic 813403 7:92132492-92132496 7:92503178-92503182
12 PEX1 NM_000466.3(PEX1):c.1126del (p.Glu376fs)deletion Pathogenic 813450 7:92146703-92146703 7:92517389-92517389
13 PEX1 NM_000466.3(PEX1):c.130-1G>TSNV Pathogenic 813453 7:92151560-92151560 7:92522246-92522246
14 PEX6 NC_000006.12:g.(?_42968280)_(42979253_?)deldeletion Pathogenic 833404 6:42936018-42946991
15 PEX6 NC_000006.12:g.(?_42974865)_(42975048_?)deldeletion Pathogenic 830981 6:42942603-42942786
16 PEX6 NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs)short repeat Pathogenic 837284 6:42946651-42946652 6:42978913-42978914
17 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)SNV Pathogenic 2152 rs62641228 22:18562701-18562701 22:18079935-18079935
18 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs)duplication Pathogenic 2154 rs61752129 22:18561170-18561171 22:18078404-18078405
19 PEX10 NM_002617.3(PEX10):c.704dup (p.Leu236fs)duplication Pathogenic 6774 rs61750435 1:2338230-2338231 1:2406791-2406792
20 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562
21 PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs)duplication Pathogenic 7519 rs61750415 7:92132483-92132484 7:92503169-92503170
22 PEX1 PEX1, 1-BP DEL, 2916Adeletion Pathogenic 7520
23 PEX12 NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)SNV Pathogenic 7774 rs61752103 17:33904199-33904199 17:35577180-35577180
24 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)SNV Pathogenic 13704 rs61752123 8:77896060-77896060 8:76983824-76983824
25 PEX12 NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs)short repeat Pathogenic 92776 rs398123301 17:33902992-33902993 17:35575973-35575974
26 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs)deletion Pathogenic 139588 rs61752122 8:77896132-77896136 8:76983896-76983900
27 PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)duplication Pathogenic 203390 rs794729652 7:92120644-92120645 7:92491330-92491331
28 PEX1 NM_000466.3(PEX1):c.1239+1G>TSNV Pathogenic 217430 rs756876301 7:92146589-92146589 7:92517275-92517275
29 PEX6 NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)SNV Pathogenic 224323 rs61753224 6:42935275-42935275 6:42967537-42967537
30 PEX6 NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)deletion Pathogenic 224321 rs267608216 6:42937452-42937459 6:42969714-42969721
31 PEX1 NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)SNV Pathogenic 265395 rs61750422 7:92129122-92129122 7:92499808-92499808
32 PEX1 NM_000466.3(PEX1):c.1131del (p.Asp378fs)deletion Pathogenic 286796 rs886043479 7:92146698-92146698 7:92517384-92517384
33 PEX10 NM_153818.1(PEX10):c.874_875del (p.Leu292fs)deletion Pathogenic 296273 rs61752093 1:2338020-2338021 1:2406581-2406582
34 PEX1 NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)SNV Pathogenic 371698 rs1057517467 7:92119090-92119090 7:92489776-92489776
35 PEX1 NM_000466.3(PEX1):c.2T>C (p.Met1Thr)SNV Pathogenic 371746 rs766020928 7:92157748-92157748 7:92528434-92528434
36 PEX1 NM_000466.3(PEX1):c.1A>T (p.Met1Leu)SNV Pathogenic 371744 rs1057517501 7:92157749-92157749 7:92528435-92528435
37 PEX12 NM_000286.3(PEX12):c.126+1G>TSNV Pathogenic 371718 rs144259891 17:33904914-33904914 17:35577895-35577895
38 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)SNV Pathogenic/Likely pathogenic 371782 rs149806989 7:92147282-92147282 7:92517968-92517968
39 PEX1 NM_000466.3(PEX1):c.2T>G (p.Met1Arg)SNV Pathogenic/Likely pathogenic 371688 rs766020928 7:92157748-92157748 7:92528434-92528434
40 PEX12 NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)duplication Pathogenic/Likely pathogenic 371737 rs61752107 17:33903147-33903148 17:35576128-35576129
41 PEX1 NM_000466.3(PEX1):c.358-1G>TSNV Pathogenic/Likely pathogenic 371714 rs1057517479 7:92147570-92147570 7:92518256-92518256
42 PEX1 NM_000466.3(PEX1):c.1908del (p.Arg636fs)deletion Pathogenic/Likely pathogenic 371713 rs1057517478 7:92134209-92134209 7:92504895-92504895
43 PEX1 NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)SNV Pathogenic/Likely pathogenic 371716 rs1057517481 7:92123852-92123852 7:92494538-92494538
44 PEX1 NM_000466.3(PEX1):c.3208-1G>ASNV Pathogenic/Likely pathogenic 371765 rs1057517518 7:92120817-92120817 7:92491503-92491503
45 PEX1 NM_000466.3(PEX1):c.2032_2033CA[1] (p.His678fs)short repeat Pathogenic/Likely pathogenic 371692 rs61750412 7:92134082-92134083 7:92504768-92504769
46 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp)duplication Pathogenic/Likely pathogenic 93102 rs398123408 7:92134156-92134157 7:92504842-92504843
47 PEX1 NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)duplication Pathogenic/Likely pathogenic 287046 rs886043558 7:92120719-92120720 7:92491405-92491406
48 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)deletion Pathogenic/Likely pathogenic 287499 rs764771123 8:77896070-77896076 8:76983834-76983840
49 PEX1 NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs)short repeat Pathogenic/Likely pathogenic 188981 rs769836601 7:92118678-92118681 7:92489364-92489367
50 PEX1 NM_000466.3(PEX1):c.2916del (p.Gly973fs)deletion Pathogenic/Likely pathogenic 189043 rs61750426 7:92123811-92123811 7:92494497-92494497

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

73
# 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 11.5 SLC25A17 PIPOX PEX7 PEX6 PEX5 PEX3

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 SLC25A17 PHEX PEX6 PEX5 PEX3 PEX26
2 peroxisomal membrane GO:0005778 9.89 SLC25A17 PEX7 PEX6 PEX5 PEX3 PEX26
3 protein-containing complex GO:0032991 9.88 PEX5 PEX3 PEX19 PEX14 PEX11B CAT
4 integral component of peroxisomal membrane GO:0005779 9.76 SLC25A17 PEX3 PEX26 PEX2 PEX16 PEX13
5 peroxisomal matrix GO:0005782 9.62 PIPOX PEX7 HSD17B4 CAT
6 peroxisome GO:0005777 9.58 SLC25A17 PIPOX PEX7 PEX6 PEX5 PEX3
7 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12

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

(show all 16)
# 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 9.73 PEX7 PEX5 PEX13
5 peroxisome organization GO:0007031 9.73 PEX7 PEX6 PEX5 PEX3 PEX2 PEX19
6 fatty acid beta-oxidation GO:0006635 9.72 SLC25A17 PEX7 PEX5 PEX2 HSD17B4
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 9.58 PEX5 PEX2 HSD17B4
9 cerebral cortex cell migration GO:0021795 9.55 PEX5 PEX13
10 peroxisome fission GO:0016559 9.54 PEX19 PEX11B
11 protein import into peroxisome matrix, docking GO:0016560 9.54 PEX5 PEX14 PEX13
12 fatty acid alpha-oxidation GO:0001561 9.52 SLC25A17 PEX13
13 protein targeting to peroxisome GO:0006625 9.5 PIPOX PEX7 PEX6 PEX5 PEX26 PEX2
14 peroxisome membrane biogenesis GO:0016557 9.48 PEX3 PEX16
15 microtubule-based peroxisome localization GO:0060152 9.46 PEX13 PEX1
16 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX6 PEX14

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 ATPase activity, coupled GO:0042623 9.32 PEX6 PEX1
3 peroxisome targeting sequence binding GO:0000268 9.16 PEX5 CAT
4 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1
5 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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