MCID: PRX045
MIFTS: 56

Peroxisome Biogenesis Disorder 1b

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 1b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 1b:

Name: Peroxisome Biogenesis Disorder 1b 57 75 29 13 6
Infantile Refsum Disease 12 54 59 75 37 15 73
Infantile Phytanic Acid Storage Disease 57 12 54 75
Peroxisome Biogenesis Disorder 57 75 37 40
Infantile Refsum's Disease 29 6
Refsum Disease, Infantile 57 44
Pbd1b 57 75
Peroxisome Biogenesis Disorder, Type 1b ) 40
Adrenoleukodystrophy, Autosomal Neonatal 57
Autosomal Neonatal Adrenoleukodystrophy 75
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;

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:



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 refsum disease, classic and neonatal adrenoleukodystrophy, and has symptoms including seizures 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 Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and kidney, and related phenotypes are sensorineural hearing impairment and visual impairment

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)

UniProtKB/Swiss-Prot : 75 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 all 24)
# Related Disease Score Top Affiliating Genes
1 refsum disease, classic 28.5 CAT GNPAT HSD17B4 PEX14 PEX16 PEX5
2 neonatal adrenoleukodystrophy 26.4 CAT PEX1 PEX10 PEX11B PEX12 PEX13
3 refsum disease, infantile form 12.3
4 peroxisome biogenesis disorder 14b 10.9
5 deafness enamel hypoplasia nail defects 10.6 GATAD1 PEX1 PEX6
6 peroxisome biogenesis disorder 11a 10.5 GATAD1 PEX1 PEX13
7 peroxisome biogenesis disorder 11b 10.5 GATAD1 PEX1 PEX13
8 peroxisome biogenesis disorder 1a 10.4 PEX1 PEX10
9 mulibrey nanism 10.0 PEX1 PEX5 PEX7
10 phacogenic glaucoma 10.0 PEX19 PHEX
11 rhizomelic chondrodysplasia punctata, type 3 9.8 GNPAT PEX5 PEX7
12 iris disease 9.7 PEX19 PHEX
13 peroxisomal acyl-coa oxidase deficiency 9.7 CAT HSD17B4 PEX5
14 chondrodysplasia punctata syndrome 9.7 GNPAT PEX5 PEX7
15 d-bifunctional protein deficiency 9.6 CAT HSD17B4 PEX5
16 rhizomelic chondrodysplasia punctata 9.6 GNPAT PEX26 PEX5 PEX7
17 zellweger spectrum disorder 9.5 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
18 rhizomelic chondrodysplasia punctata, type 5 9.4 GNPAT PEX5 PEX7 PHEX
19 adrenoleukodystrophy 9.2 CAT PEX1 PEX10 PEX19 PEX26 PEX5
20 rhizomelic chondrodysplasia punctata, type 2 8.9 CAT GNPAT PEX5 PEX7 PHEX
21 peroxisomal disease 8.3 CAT GNPAT HSD17B4 PEX1 PEX2 PEX5
22 rhizomelic chondrodysplasia punctata, type 1 8.2 GNPAT HSD17B4 PEX12 PEX2 PEX5 PEX7
23 zellweger syndrome 7.3 GNPAT PEX1 PEX10 PEX12 PEX13 PEX14
24 peroxisomal biogenesis disorders 6.9 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13

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

Symptoms via clinical synopsis from OMIM:

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

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

Human phenotypes related to Peroxisome Biogenesis Disorder 1b:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
2 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
3 rod-cone dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000510
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
6 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
7 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
8 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
9 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
11 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
12 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
13 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
14 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
15 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
16 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
17 progressive muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003323
18 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
19 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
20 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
21 very long chain fatty acid accumulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008167
22 elevated levels of phytanic acid 59 32 hallmark (90%) Very frequent (99-80%) HP:0010571
23 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
24 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
25 abnormality of the face 59 Occasional (29-5%)
26 hearing impairment 59 Frequent (79-30%)
27 concentric narrowing of visual fields 59 Very frequent (99-80%)
28 renal cyst 32 HP:0000107
29 epicanthus 32 HP:0000286
30 wide nasal bridge 32 HP:0000431
31 convex nasal ridge 32 HP:0000444
32 delayed speech and language development 32 HP:0000750
33 generalized hypotonia 32 HP:0001290
34 neonatal hypotonia 32 HP:0001319
35 cirrhosis 32 HP:0001394
36 hepatic fibrosis 32 HP:0001395
37 leukodystrophy 32 HP:0002415
38 hyperoxaluria 32 HP:0003159
39 epiphyseal stippling 32 HP:0010655
40 midface retrusion 32 HP:0011800
41 constriction of peripheral visual field 32 hallmark (90%) HP:0001133

UMLS symptoms related to Peroxisome Biogenesis Disorder 1b:


seizures

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 10.02 PEX16 PEX26
2 Decreased viability GR00381-A-1 10.02 GNPAT
3 Decreased viability GR00402-S-2 10.02 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5
4 no effect GR00402-S-1 9.62 HSD17B4 PEX1 PEX10 PEX11B PEX12 PEX13

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 PEX1 PEX10 PEX11B PEX13 PEX2 PEX26
2 growth/size/body region MP:0005378 10.06 GNPAT HSD17B4 PEX1 PEX10 PEX11B PEX13
3 mortality/aging MP:0010768 9.77 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B
4 liver/biliary system MP:0005370 9.7 PEX5 PEX7 HSD17B4 PEX1 PEX11B PEX13
5 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
2 Bile Acids and Salts Phase 3,Not Applicable
3 Cholic Acids Phase 3,Not Applicable
4 Gastrointestinal Agents Phase 3,Not Applicable
5 Liver Extracts Phase 3
6 Antimetabolites Phase 3,Phase 2
7 Hypolipidemic Agents Phase 3
8 Lipid Regulating Agents Phase 3
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
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
16
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Alkylating Agents Phase 2
19 Antilymphocyte Serum Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antineoplastic Agents, Alkylating Phase 2
22 Immunosuppressive Agents Phase 2
23 N-monoacetylcystine Phase 2
24 Thioctic Acid Phase 2
25 Tocopherols Phase 2
26 Tocotrienols Phase 2
27 Vitamins Phase 2
28 Alpha-lipoic Acid Nutraceutical Phase 2
29 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
30
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
31
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
32 Cathartics Not Applicable
33 Laxatives Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
2 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
3 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis 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 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable 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 PEX12
2 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, Kidney, Brain, Bone, Monocytes, Smooth Muscle

Publications for Peroxisome Biogenesis Disorder 1b

Articles related to Peroxisome Biogenesis Disorder 1b:

(show all 25)
# Title Authors Year
1
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). ( 29482424 )
2018
2
Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated I^-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease. ( 27886192 )
2017
3
Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease. ( 27221287 )
2016
4
Conventional and advanced MR imaging in infantile Refsum disease. ( 26701952 )
2015
5
Audiological findings in Infantile Refsum disease. ( 26055198 )
2015
6
Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels. ( 26303611 )
2015
7
Infantile refsum disease in a young adult: case presentation and brief review. ( 25372210 )
2014
8
Medical-dental findings and management of a child with infantile Refsum disease: a case report. ( 22591434 )
2012
9
Infantile refsum disease with enamel defects: a case report. ( 21703082 )
2011
10
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. ( 15902563 )
2005
11
Infantile Refsum disease: serial evaluation with MRI. ( 15480616 )
2005
12
Infantile refsum disease: case report. ( 14625237 )
2003
13
Infantile refsum disease in four Amish sibs. ( 10607947 )
2000
14
Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. ( 9671729 )
1998
15
Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder. ( 7533834 )
1995
16
Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line. ( 7519689 )
1994
17
Autopsy findings in two siblings with infantile Refsum disease. ( 1373019 )
1992
18
Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease. ( 1279267 )
1992
19
Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder. ( 1374125 )
1992
20
MR findings in infantile Refsum disease: case report of two family members. ( 1722384 )
1991
21
Infantile Refsum disease. ( 1722385 )
1991
22
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. ( 2445576 )
1987
23
Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins. ( 2429839 )
1986
24
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. ( 2430454 )
1986
25
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. ( 2426710 )
1986

Variations for Peroxisome Biogenesis Disorder 1b

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

75
# 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

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1b:

6
(show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
2 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
3 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
4 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
5 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
6 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
7 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
8 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh38 Chromosome 7, 92491331: 92491331
9 PEX1 NM_000466.2(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 GRCh37 Chromosome 7, 92119090: 92119090
10 PEX1 NM_000466.2(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 GRCh38 Chromosome 7, 92489776: 92489776
11 PEX1 NM_000466.2(PEX1): c.3547G> T (p.Glu1183Ter) single nucleotide variant Likely pathogenic rs1057517480 GRCh38 Chromosome 7, 92489803: 92489803
12 PEX1 NM_000466.2(PEX1): c.3547G> T (p.Glu1183Ter) single nucleotide variant Likely pathogenic rs1057517480 GRCh37 Chromosome 7, 92119117: 92119117
13 PEX1 NM_000466.2(PEX1): c.3455_3456delCT (p.Ser1152Cysfs) deletion Likely pathogenic rs759183382 GRCh38 Chromosome 7, 92489894: 92489895
14 PEX1 NM_000466.2(PEX1): c.3455_3456delCT (p.Ser1152Cysfs) deletion Likely pathogenic rs759183382 GRCh37 Chromosome 7, 92119208: 92119209
15 PEX1 NM_000466.2(PEX1): c.3237_3238delAA (p.Leu1081Valfs) deletion Likely pathogenic rs1057517509 GRCh38 Chromosome 7, 92491472: 92491473
16 PEX1 NM_000466.2(PEX1): c.3237_3238delAA (p.Leu1081Valfs) deletion Likely pathogenic rs1057517509 GRCh37 Chromosome 7, 92120786: 92120787
17 PEX1 NM_000466.2(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 GRCh37 Chromosome 7, 92120817: 92120817
18 PEX1 NM_000466.2(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 GRCh38 Chromosome 7, 92491503: 92491503
19 PEX1 NM_000466.2(PEX1): c.2927-2A> G single nucleotide variant Likely pathogenic rs1057517531 GRCh37 Chromosome 7, 92123712: 92123712
20 PEX1 NM_000466.2(PEX1): c.2927-2A> G single nucleotide variant Likely pathogenic rs1057517531 GRCh38 Chromosome 7, 92494398: 92494398
21 PEX1 NM_000466.2(PEX1): c.2922delA (p.Leu974Phefs) deletion Pathogenic/Likely pathogenic rs762324548 GRCh38 Chromosome 7, 92494491: 92494491
22 PEX1 NM_000466.2(PEX1): c.2922delA (p.Leu974Phefs) deletion Pathogenic/Likely pathogenic rs762324548 GRCh37 Chromosome 7, 92123805: 92123805
23 PEX1 NM_000466.2(PEX1): c.2875C> T (p.Arg959Ter) single nucleotide variant Likely pathogenic rs1057517481 GRCh38 Chromosome 7, 92494538: 92494538
24 PEX1 NM_000466.2(PEX1): c.2875C> T (p.Arg959Ter) single nucleotide variant Likely pathogenic rs1057517481 GRCh37 Chromosome 7, 92123852: 92123852
25 PEX1 NM_000466.2(PEX1): c.2859dupT (p.Thr954Tyrfs) duplication Likely pathogenic rs1057517472 GRCh38 Chromosome 7, 92494554: 92494554
26 PEX1 NM_000466.2(PEX1): c.2859dupT (p.Thr954Tyrfs) duplication Likely pathogenic rs1057517472 GRCh37 Chromosome 7, 92123868: 92123868
27 PEX1 NM_000466.2(PEX1): c.2798dupA (p.Pro934Alafs) duplication Likely pathogenic rs1057517484 GRCh38 Chromosome 7, 92494615: 92494615
28 PEX1 NM_000466.2(PEX1): c.2798dupA (p.Pro934Alafs) duplication Likely pathogenic rs1057517484 GRCh37 Chromosome 7, 92123929: 92123929
29 PEX1 NM_000466.2(PEX1): c.2723delC (p.Pro908Glnfs) deletion Likely pathogenic rs1057517503 GRCh38 Chromosome 7, 92496773: 92496773
30 PEX1 NM_000466.2(PEX1): c.2723delC (p.Pro908Glnfs) deletion Likely pathogenic rs1057517503 GRCh37 Chromosome 7, 92126087: 92126087
31 PEX1 NM_000466.2(PEX1): c.2686C> T (p.Arg896Ter) single nucleotide variant Likely pathogenic rs1057517485 GRCh38 Chromosome 7, 92499736: 92499736
32 PEX1 NM_000466.2(PEX1): c.2686C> T (p.Arg896Ter) single nucleotide variant Likely pathogenic rs1057517485 GRCh37 Chromosome 7, 92129050: 92129050
33 PEX1 NM_000466.2(PEX1): c.2617C> T (p.Gln873Ter) single nucleotide variant Likely pathogenic rs1057517470 GRCh38 Chromosome 7, 92499805: 92499805
34 PEX1 NM_000466.2(PEX1): c.2617C> T (p.Gln873Ter) single nucleotide variant Likely pathogenic rs1057517470 GRCh37 Chromosome 7, 92129119: 92129119
35 PEX1 NM_000466.2(PEX1): c.2162_2166delTACTT (p.Leu721Cysfs) deletion Likely pathogenic rs1057517499 GRCh38 Chromosome 7, 92503101: 92503105
36 PEX1 NM_000466.2(PEX1): c.2162_2166delTACTT (p.Leu721Cysfs) deletion Likely pathogenic rs1057517499 GRCh37 Chromosome 7, 92132415: 92132419
37 PEX1 NM_000466.2(PEX1): c.2137C> T (p.Gln713Ter) single nucleotide variant Likely pathogenic rs1057517468 GRCh37 Chromosome 7, 92132444: 92132444
38 PEX1 NM_000466.2(PEX1): c.2137C> T (p.Gln713Ter) single nucleotide variant Likely pathogenic rs1057517468 GRCh38 Chromosome 7, 92503130: 92503130
39 PEX1 NM_000466.2(PEX1): c.2034_2035delCA (p.His678Glnfs) deletion Likely pathogenic rs61750412 GRCh38 Chromosome 7, 92504768: 92504769
40 PEX1 NM_000466.2(PEX1): c.2034_2035delCA (p.His678Glnfs) deletion Likely pathogenic rs61750412 GRCh37 Chromosome 7, 92134082: 92134083
41 PEX1 NM_000466.2(PEX1): c.1964_1970dupAGCCATC (p.Val658Alafs) duplication Likely pathogenic rs1057517486 GRCh37 Chromosome 7, 92134147: 92134153
42 PEX1 NM_000466.2(PEX1): c.1964_1970dupAGCCATC (p.Val658Alafs) duplication Likely pathogenic rs1057517486 GRCh38 Chromosome 7, 92504833: 92504839
43 PEX1 NM_000466.2(PEX1): c.1926_1927delAAinsC (p.Lys642Asnfs) indel Likely pathogenic rs1057517529 GRCh37 Chromosome 7, 92134190: 92134191
44 PEX1 NM_000466.2(PEX1): c.1926_1927delAAinsC (p.Lys642Asnfs) indel Likely pathogenic rs1057517529 GRCh38 Chromosome 7, 92504876: 92504877
45 PEX1 NM_000466.2(PEX1): c.1921C> T (p.Gln641Ter) single nucleotide variant Likely pathogenic rs1057517464 GRCh38 Chromosome 7, 92504882: 92504882
46 PEX1 NM_000466.2(PEX1): c.1921C> T (p.Gln641Ter) single nucleotide variant Likely pathogenic rs1057517464 GRCh37 Chromosome 7, 92134196: 92134196
47 PEX1 NM_000466.2(PEX1): c.1908delG (p.Arg636Serfs) deletion Likely pathogenic rs1057517478 GRCh37 Chromosome 7, 92134209: 92134209
48 PEX1 NM_000466.2(PEX1): c.1908delG (p.Arg636Serfs) deletion Likely pathogenic rs1057517478 GRCh38 Chromosome 7, 92504895: 92504895
49 PEX1 NM_000466.2(PEX1): c.1842delA (p.Glu615Lysfs) deletion Likely pathogenic rs267608176 GRCh37 Chromosome 7, 92135620: 92135620
50 PEX1 NM_000466.2(PEX1): c.1842delA (p.Glu615Lysfs) deletion Likely pathogenic rs267608176 GRCh38 Chromosome 7, 92506306: 92506306

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 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B

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 peroxisomal membrane GO:0005778 9.86 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B
2 protein-containing complex GO:0032991 9.8 PEX11B PEX14 PEX19 PEX3 PEX5
3 peroxisomal matrix GO:0005782 9.62 CAT GNPAT HSD17B4 PEX7
4 peroxisomal importomer complex GO:1990429 9.43 PEX12 PEX13 PEX14
5 integral component of peroxisomal membrane GO:0005779 9.23 PEX10 PEX11B PEX12 PEX13 PEX16 PEX2
6 membrane GO:0016020 10.3 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B
7 peroxisome GO:0005777 10.09 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.99 PEX1 PEX13 PEX14 PEX26 PEX5 PEX7
2 peroxisome organization GO:0007031 9.93 PEX1 PEX10 PEX11B PEX12 PEX14 PEX16
3 neuron migration GO:0001764 9.72 PEX13 PEX5 PEX7
4 fatty acid beta-oxidation GO:0006635 9.67 HSD17B4 PEX2 PEX5 PEX7
5 protein import into peroxisome membrane GO:0045046 9.65 PEX16 PEX19 PEX26 PEX3 PEX5
6 protein import into peroxisome matrix GO:0016558 9.61 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
7 cellular lipid metabolic process GO:0044255 9.57 GNPAT PEX5
8 response to fatty acid GO:0070542 9.56 CAT GNPAT
9 cerebral cortex cell migration GO:0021795 9.54 PEX13 PEX5
10 peroxisome fission GO:0016559 9.52 PEX11B PEX19
11 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX13 PEX14 PEX5
12 ether lipid biosynthetic process GO:0008611 9.49 GNPAT PEX7
13 peroxisome membrane biogenesis GO:0016557 9.48 PEX16 PEX3
14 microtubule-based peroxisome localization GO:0060152 9.46 PEX1 PEX13
15 protein import into peroxisome matrix, translocation GO:0016561 9.43 PEX14 PEX6
16 negative regulation of protein homotetramerization GO:1901094 9.4 PEX14 PEX5
17 protein targeting to peroxisome GO:0006625 9.1 PEX1 PEX12 PEX16 PEX19 PEX6 PEX7

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

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

Sources for Peroxisome Biogenesis Disorder 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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