PBD1B
MCID: PRX045
MIFTS: 59

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 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 peroxisome biogenesis disorder 11a and peroxisome biogenesis disorder 1a, 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 brain, and related phenotypes are abnormality of epiphysis morphology and nystagmus

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)

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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 11a 34.4 GATAD1 PEX1 PEX13
2 peroxisome biogenesis disorder 1a 34.3 PEX1 PEX10
3 peroxisome biogenesis disorder 11b 34.3 GATAD1 PEX1 PEX13
4 peroxisomal biogenesis disorders 32.6 CAT HSD17B4 PEX1 PEX10 PEX12 PEX13
5 rhizomelic chondrodysplasia punctata, type 1 32.4 GNPAT HSD17B4 PEX12 PEX2 PEX5 PEX7
6 zellweger spectrum disorder 32.1 PEX1 PEX10 PEX12 PEX16 PEX2 PEX3
7 adrenoleukodystrophy 32.0 CAT PEX1 PEX10 PEX19 PEX26 PEX5
8 zellweger syndrome 31.9 GNPAT PEX1 PEX10 PEX12 PEX13 PEX14
9 rhizomelic chondrodysplasia punctata, type 3 31.8 GNPAT PEX5 PEX7
10 rhizomelic chondrodysplasia punctata, type 2 31.4 CAT GNPAT PEX5 PEX7 PHEX
11 refsum disease, classic 30.8 CAT GNPAT HSD17B4 PEX14 PEX16 PEX5
12 neonatal adrenoleukodystrophy 30.4 CAT PEX1 PEX10 PEX11B PEX12 PEX13
13 chondrodysplasia punctata syndrome 29.9 GNPAT PEX5 PEX7
14 rhizomelic chondrodysplasia punctata 29.9 GNPAT PEX26 PEX5 PEX7
15 peroxisomal disease 29.3 CAT GNPAT HSD17B4 PEX1 PEX2 PEX5
16 peroxisome biogenesis disorder 4a 12.8
17 peroxisome biogenesis disorder 5a 12.8
18 peroxisome biogenesis disorder 9b 12.8
19 peroxisome biogenesis disorder 2a 12.7
20 peroxisome biogenesis disorder 6a 12.7
21 peroxisome biogenesis disorder 10a 12.7
22 peroxisome biogenesis disorder 12a 12.7
23 peroxisome biogenesis disorder 3a 12.7
24 peroxisome biogenesis disorder 7a 12.7
25 peroxisome biogenesis disorder 8a 12.7
26 peroxisome biogenesis disorder 13a 12.7
27 peroxisome biogenesis disorder 4b 12.7
28 peroxisome biogenesis disorder 5b 12.7
29 peroxisome biogenesis disorder 6b 12.7
30 peroxisome biogenesis disorder 7b 12.7
31 peroxisome biogenesis disorder 8b 12.7
32 peroxisome biogenesis disorder 3b 12.7
33 peroxisome biogenesis disorder 2b 12.6
34 peroxisome biogenesis disorder 10b 12.6
35 peroxisome biogenesis disorder-zellweger syndrome spectrum 12.5
36 heimler syndrome 1 12.0
37 heimler syndrome 2 12.0
38 refsum disease, infantile form 11.4
39 respiratory distress syndrome, infant 11.1
40 peroxisome biogenesis disorder 14b 11.1
41 respiratory distress syndrome in premature infants 11.0
42 deafness enamel hypoplasia nail defects 10.2 GATAD1 PEX1 PEX6
43 bronchopulmonary dysplasia 10.1
44 acatalasemia 10.1 CAT PEX5
45 mulibrey nanism 10.1 PEX1 PEX5 PEX7
46 phacogenic glaucoma 10.0 PEX19 PHEX
47 retinitis pigmentosa-deafness syndrome 10.0
48 cataract 10.0
49 usher syndrome 10.0
50 peroxisome disorders 10.0

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

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 CAT GATAD1 GNPAT HSD17B4 PEX1 PEX10
4 no effect GR00402-S-1 9.62 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 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 Lipid Regulating Agents Phase 3
7 Antimetabolites Phase 3,Phase 2
8 Hypolipidemic Agents Phase 3
9
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
16
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Tocopherols Phase 2
20 Antilymphocyte Serum Phase 2
21 Vitamins Phase 2
22 Immunosuppressive Agents Phase 2
23 Antimetabolites, Antineoplastic Phase 2
24 Tocotrienols Phase 2
25 N-monoacetylcystine Phase 2
26 Alpha-lipoic Acid Phase 2
27 Antineoplastic Agents, Alkylating Phase 2
28 Alkylating Agents Phase 2
29 Immunologic Factors Phase 2
30 Thioctic Acid Phase 2
31
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
32
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
33 Cathartics Not Applicable
34 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, Brain, Kidney, Bone, Smooth Muscle, Monocytes

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
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease. ( 2426710 )
1986
25
Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases. ( 2430454 )
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 196)
# 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.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh37 Chromosome 17, 33904199: 33904199
4 PEX12 NM_000286.2(PEX12): c.538C> T (p.Arg180Ter) single nucleotide variant Pathogenic rs61752103 GRCh38 Chromosome 17, 35577180: 35577180
5 PEX12 NM_000286.2(PEX12): c.949C> T (p.Leu317Phe) single nucleotide variant Uncertain significance rs61752112 GRCh37 Chromosome 17, 33902932: 33902932
6 PEX12 NM_000286.2(PEX12): c.949C> T (p.Leu317Phe) single nucleotide variant Uncertain significance rs61752112 GRCh38 Chromosome 17, 35575913: 35575913
7 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh37 Chromosome 17, 33902992: 33902993
8 PEX12 NM_000286.2(PEX12): c.888_889delCT (p.Leu297Thrfs) deletion Pathogenic rs398123301 GRCh38 Chromosome 17, 35575973: 35575974
9 PEX12 NM_000286.2(PEX12): c.894delC (p.Met300Terfs) deletion Pathogenic/Likely pathogenic rs398123302 GRCh37 Chromosome 17, 33902987: 33902987
10 PEX12 NM_000286.2(PEX12): c.894delC (p.Met300Terfs) deletion Pathogenic/Likely pathogenic rs398123302 GRCh38 Chromosome 17, 35575968: 35575968
11 PEX12 NM_000286.2(PEX12): c.-26G> A single nucleotide variant Uncertain significance rs727504080 GRCh37 Chromosome 17, 33905066: 33905066
12 PEX12 NM_000286.2(PEX12): c.-26G> A single nucleotide variant Uncertain significance rs727504080 GRCh38 Chromosome 17, 35578047: 35578047
13 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
14 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
15 PEX12 NM_000286.2(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 GRCh37 Chromosome 17, 33904403: 33904403
16 PEX12 NM_000286.2(PEX12): c.334C> T (p.Gln112Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776731688 GRCh38 Chromosome 17, 35577384: 35577384
17 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh37 Chromosome 7, 92120645: 92120645
18 PEX1 NM_000466.2(PEX1): c.3379dupC (p.Arg1127Profs) duplication Pathogenic rs794729652 GRCh38 Chromosome 7, 92491331: 92491331
19 PEX12 NM_000286.2(PEX12): c.349A> G (p.Ile117Val) single nucleotide variant Uncertain significance rs767207001 GRCh37 Chromosome 17, 33904388: 33904388
20 PEX12 NM_000286.2(PEX12): c.349A> G (p.Ile117Val) single nucleotide variant Uncertain significance rs767207001 GRCh38 Chromosome 17, 35577369: 35577369
21 PEX12 NM_000286.2(PEX12): c.353T> C (p.Met118Thr) single nucleotide variant Uncertain significance rs879075660 GRCh38 Chromosome 17, 35577365: 35577365
22 PEX12 NM_000286.2(PEX12): c.353T> C (p.Met118Thr) single nucleotide variant Uncertain significance rs879075660 GRCh37 Chromosome 17, 33904384: 33904384
23 PEX1 NM_000466.2(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 GRCh37 Chromosome 7, 92119090: 92119090
24 PEX1 NM_000466.2(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 GRCh38 Chromosome 7, 92489776: 92489776
25 PEX1 NM_000466.2(PEX1): c.3547G> T (p.Glu1183Ter) single nucleotide variant Likely pathogenic rs1057517480 GRCh38 Chromosome 7, 92489803: 92489803
26 PEX1 NM_000466.2(PEX1): c.3547G> T (p.Glu1183Ter) single nucleotide variant Likely pathogenic rs1057517480 GRCh37 Chromosome 7, 92119117: 92119117
27 PEX1 NM_000466.2(PEX1): c.3455_3456delCT (p.Ser1152Cysfs) deletion Likely pathogenic rs759183382 GRCh38 Chromosome 7, 92489894: 92489895
28 PEX1 NM_000466.2(PEX1): c.3455_3456delCT (p.Ser1152Cysfs) deletion Likely pathogenic rs759183382 GRCh37 Chromosome 7, 92119208: 92119209
29 PEX1 NM_000466.2(PEX1): c.3237_3238delAA (p.Leu1081Valfs) deletion Likely pathogenic rs1057517509 GRCh38 Chromosome 7, 92491472: 92491473
30 PEX1 NM_000466.2(PEX1): c.3237_3238delAA (p.Leu1081Valfs) deletion Likely pathogenic rs1057517509 GRCh37 Chromosome 7, 92120786: 92120787
31 PEX1 NM_000466.2(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 GRCh37 Chromosome 7, 92120817: 92120817
32 PEX1 NM_000466.2(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 GRCh38 Chromosome 7, 92491503: 92491503
33 PEX1 NM_000466.2(PEX1): c.2927-2A> G single nucleotide variant Likely pathogenic rs1057517531 GRCh37 Chromosome 7, 92123712: 92123712
34 PEX1 NM_000466.2(PEX1): c.2927-2A> G single nucleotide variant Likely pathogenic rs1057517531 GRCh38 Chromosome 7, 92494398: 92494398
35 PEX1 NM_000466.2(PEX1): c.2922delA (p.Leu974Phefs) deletion Pathogenic/Likely pathogenic rs762324548 GRCh38 Chromosome 7, 92494491: 92494491
36 PEX1 NM_000466.2(PEX1): c.2922delA (p.Leu974Phefs) deletion Pathogenic/Likely pathogenic rs762324548 GRCh37 Chromosome 7, 92123805: 92123805
37 PEX1 NM_000466.2(PEX1): c.2875C> T (p.Arg959Ter) single nucleotide variant Likely pathogenic rs1057517481 GRCh38 Chromosome 7, 92494538: 92494538
38 PEX1 NM_000466.2(PEX1): c.2875C> T (p.Arg959Ter) single nucleotide variant Likely pathogenic rs1057517481 GRCh37 Chromosome 7, 92123852: 92123852
39 PEX1 NM_000466.2(PEX1): c.2859dupT (p.Thr954Tyrfs) duplication Likely pathogenic rs1057517472 GRCh38 Chromosome 7, 92494554: 92494554
40 PEX1 NM_000466.2(PEX1): c.2859dupT (p.Thr954Tyrfs) duplication Likely pathogenic rs1057517472 GRCh37 Chromosome 7, 92123868: 92123868
41 PEX1 NM_000466.2(PEX1): c.2798dupA (p.Pro934Alafs) duplication Likely pathogenic rs1057517484 GRCh38 Chromosome 7, 92494615: 92494615
42 PEX1 NM_000466.2(PEX1): c.2798dupA (p.Pro934Alafs) duplication Likely pathogenic rs1057517484 GRCh37 Chromosome 7, 92123929: 92123929
43 PEX1 NM_000466.2(PEX1): c.2723delC (p.Pro908Glnfs) deletion Likely pathogenic rs1057517503 GRCh38 Chromosome 7, 92496773: 92496773
44 PEX1 NM_000466.2(PEX1): c.2723delC (p.Pro908Glnfs) deletion Likely pathogenic rs1057517503 GRCh37 Chromosome 7, 92126087: 92126087
45 PEX1 NM_000466.2(PEX1): c.2686C> T (p.Arg896Ter) single nucleotide variant Likely pathogenic rs1057517485 GRCh38 Chromosome 7, 92499736: 92499736
46 PEX1 NM_000466.2(PEX1): c.2686C> T (p.Arg896Ter) single nucleotide variant Likely pathogenic rs1057517485 GRCh37 Chromosome 7, 92129050: 92129050
47 PEX1 NM_000466.2(PEX1): c.2617C> T (p.Gln873Ter) single nucleotide variant Likely pathogenic rs1057517470 GRCh38 Chromosome 7, 92499805: 92499805
48 PEX1 NM_000466.2(PEX1): c.2617C> T (p.Gln873Ter) single nucleotide variant Likely pathogenic rs1057517470 GRCh37 Chromosome 7, 92129119: 92129119
49 PEX1 NM_000466.2(PEX1): c.2162_2166delTACTT (p.Leu721Cysfs) deletion Likely pathogenic rs1057517499 GRCh38 Chromosome 7, 92503101: 92503105
50 PEX1 NM_000466.2(PEX1): c.2162_2166delTACTT (p.Leu721Cysfs) deletion Likely pathogenic rs1057517499 GRCh37 Chromosome 7, 92132415: 92132419

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 peroxisome GO:0005777 9.89 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 peroxisomal membrane GO:0005778 10.09 CAT GNPAT HSD17B4 PEX1 PEX10 PEX11B

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 PEX1 PEX13 PEX14 PEX26 PEX5 PEX7
2 protein ubiquitination GO:0016567 9.97 PEX10 PEX12 PEX13 PEX14 PEX2 PEX5
3 neuron migration GO:0001764 9.74 PEX13 PEX5 PEX7
4 peroxisome organization GO:0007031 9.73 PEX1 PEX10 PEX11B PEX12 PEX14 PEX16
5 fatty acid beta-oxidation GO:0006635 9.67 HSD17B4 PEX2 PEX5 PEX7
6 protein import into peroxisome membrane GO:0045046 9.65 PEX16 PEX19 PEX26 PEX3 PEX5
7 cellular lipid metabolic process GO:0044255 9.58 GNPAT PEX5
8 response to fatty acid GO:0070542 9.58 CAT GNPAT
9 very long-chain fatty acid metabolic process GO:0000038 9.56 HSD17B4 PEX2
10 cerebral cortex cell migration GO:0021795 9.55 PEX13 PEX5
11 peroxisome fission GO:0016559 9.54 PEX11B PEX19
12 ether lipid biosynthetic process GO:0008611 9.52 GNPAT PEX7
13 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX13 PEX14 PEX5
14 peroxisome membrane biogenesis GO:0016557 9.48 PEX16 PEX3
15 microtubule-based peroxisome localization GO:0060152 9.46 PEX1 PEX13
16 negative regulation of protein homotetramerization GO:1901094 9.43 PEX14 PEX5
17 protein import into peroxisome matrix, translocation GO:0016561 9.4 PEX14 PEX6
18 protein import into peroxisome matrix GO:0016558 9.32 PEX1 PEX10 PEX12 PEX14 PEX16 PEX2
19 protein targeting to peroxisome GO:0006625 10.03 CAT GNPAT HSD17B4 PEX1 PEX10 PEX12

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 9.56 CAT GNPAT HSD17B4 PEX14
2 ATPase activity, coupled GO:0042623 9.16 PEX1 PEX6
3 protein N-terminus binding GO:0047485 9.13 PEX14 PEX19 PEX5
4 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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