PBD1A
MCID: PRX059
MIFTS: 57

Peroxisome Biogenesis Disorder 1a (PBD1A)

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 1a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 1a:

Name: Peroxisome Biogenesis Disorder 1a 57 12 74 29 13 6
Cerebrohepatorenal Syndrome 57 74
Zellweger Syndrome 74 72
Pbd1a 57 74
Zws 57 74
Chr 57 75
Zs 57 74
Peroxisome Biogenesis Disorder, Complementation Group 1 29
Peroxisome Biogenesis Disorder Complementation Group 1 74
Peroxisome Biogenesis Disorder Complementation Group E 74
Peroxisome Biogenesis Disorder, Type 1a 40
Cerebrohepatorenal Syndrome; Chr 57
Cerebro-Hepato-Renal Syndrome 74
Zellweger's Syndrome 74
Chr Syndrome 74
Zs; Zws 57
Pbd-Cge 74
Pbd-Cg1 74
Cg1 74

Characteristics:

OMIM:

57
Miscellaneous:
breech presentation
genetic heterogeneity
death usually in first year of life
infants occasionally mistaken as having down syndrome

Inheritance:
autosomal recessive


HPO:

32
peroxisome biogenesis disorder 1a:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0080476
UMLS 72 C0043459

Summaries for Peroxisome Biogenesis Disorder 1a

OMIM : 57 Zellweger syndrome is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life (summary by Wanders, 2004). 'Zellweger syndrome' is the prototype of a large group of peroxisomal disorders, which can be classified into 2 main groups: (1) disorders of peroxisome biogenesis and (2) single peroxisomal enzyme deficiencies (see 264470). The peroxisome biogenesis disorders (PBDs) fall into 4 main phenotypic classes. Three of them, Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), have multiple complementation groups and form a spectrum of overlapping features, with the most severe being the Zellweger syndrome and the least severe infantile Refsum disease. The fourth group, rhizomelic chondrodysplasia punctata (RCDP1; 215100), is a distinct PBD phenotype (summary by Moser et al., 1995, Wanders, 2004). Heimler syndrome, a rare autosomal recessive disorder encompassing sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities, represents a discrete phenotypic entity at the mildest end of the PBD spectrum (Ratbi et al., 2015). (214100)

MalaCards based summary : Peroxisome Biogenesis Disorder 1a, also known as cerebrohepatorenal syndrome, is related to zellweger spectrum disorder and peroxisome biogenesis disorder 11a, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 1a is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. The drugs Gastrointestinal Agents and Cholic Acids have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are macrocephaly and malar flattening

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.

UniProtKB/Swiss-Prot : 74 Peroxisome biogenesis disorder 1A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Peroxisome biogenesis disorder complementation group 1: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).

Related Diseases for Peroxisome Biogenesis Disorder 1a

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 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 183)
# Related Disease Score Top Affiliating Genes
1 zellweger spectrum disorder 31.1 PEX3 PEX2 PEX1
2 peroxisome biogenesis disorder 11a 30.5 PEX13 PEX1 GATAD1
3 peroxisome biogenesis disorder 11b 30.4 PEX13 PEX1 GATAD1
4 adrenoleukodystrophy 30.1 PEX5 PEX26 PEX1
5 deafness enamel hypoplasia nail defects 30.0 PEX1 GATAD1
6 rhizomelic chondrodysplasia punctata, type 1 29.5 PEX5 PEX2
7 rhizomelic chondrodysplasia punctata 29.5 PEX5 PEX26
8 zellweger syndrome 29.4 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1
9 peroxisomal disease 29.3 PEX5 PEX2 PEX1
10 peroxisome biogenesis disorder 1b 28.0 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1
11 neonatal adrenoleukodystrophy 27.4 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1
12 alpha-methylacetoacetic aciduria 11.6
13 peroxisome biogenesis disorder 14b 11.6
14 refsum disease, classic 11.5
15 refsum disease, infantile form 11.5
16 peroxisome biogenesis disorder 5b 11.5
17 peroxisome biogenesis disorder 7b 11.4
18 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.4
19 mental retardation, skeletal dysplasia, and abducens palsy 11.3
20 d-bifunctional protein deficiency 11.3
21 peroxisomal acyl-coa oxidase deficiency 11.3
22 peroxisome biogenesis disorder 9b 11.3
23 heimler syndrome 1 11.2
24 heimler syndrome 2 11.2
25 chronic sphenoidal sinusitis 11.2
26 combined hamartoma of the retina and retinal pigment epithelium 11.2
27 peroxisome biogenesis disorder 2a 11.1
28 peroxisome biogenesis disorder 3a 11.1
29 peroxisome biogenesis disorder 4a 11.1
30 peroxisome biogenesis disorder 5a 11.1
31 peroxisome biogenesis disorder 6a 11.1
32 peroxisome biogenesis disorder 7a 11.1
33 peroxisome biogenesis disorder 8a 11.1
34 peroxisome biogenesis disorder 10a 11.1
35 peroxisome biogenesis disorder 12a 11.1
36 peroxisome biogenesis disorder 13a 11.1
37 peroxisome biogenesis disorder 2b 11.1
38 peroxisome biogenesis disorder 3b 11.1
39 peroxisome biogenesis disorder 4b 11.1
40 peroxisome biogenesis disorder 6b 11.1
41 peroxisome biogenesis disorder 8b 11.1
42 thrombocytopenia 10.4
43 argyria 10.4
44 peroxisomal biogenesis disorder 10.4
45 iron metabolism disease 10.4
46 platelet groups--ko system 10.4
47 purpura 10.4
48 immune deficiency disease 10.3
49 adrenomyeloneuropathy 10.3
50 constipation 10.3

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



Diseases related to Peroxisome Biogenesis Disorder 1a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 1a

Human phenotypes related to Peroxisome Biogenesis Disorder 1a:

32 (show top 50) (show all 68)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 high palate 32 HP:0000218
5 nystagmus 32 HP:0000639
6 seizures 32 HP:0001250
7 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 HP:0001508
9 macroglossia 32 HP:0000158
10 cataract 32 HP:0000518
11 hepatomegaly 32 HP:0002240
12 delayed skeletal maturation 32 HP:0002750
13 abnormality of the helix 32 HP:0011039
14 sensorineural hearing impairment 32 HP:0000407
15 anteverted nares 32 HP:0000463
16 aminoaciduria 32 HP:0003355
17 intellectual disability, severe 32 HP:0010864
18 micrognathia 32 HP:0000347
19 generalized hypotonia 32 HP:0001290
20 high, narrow palate 32 HP:0002705
21 areflexia 32 HP:0001284
22 opacification of the corneal stroma 32 HP:0007759
23 patent ductus arteriosus 32 HP:0001643
24 epicanthus 32 HP:0000286
25 abnormal electroretinogram 32 HP:0000512
26 cryptorchidism 32 HP:0000028
27 metatarsus adductus 32 HP:0001840
28 epiphyseal stippling 32 HP:0010655
29 flat face 32 HP:0012368
30 cubitus valgus 32 HP:0002967
31 talipes equinovarus 32 HP:0001762
32 intellectual disability, progressive 32 HP:0006887
33 hypospadias 32 HP:0000047
34 glaucoma 32 HP:0000501
35 hydronephrosis 32 HP:0000126
36 upslanted palpebral fissure 32 HP:0000582
37 protruding tongue 32 HP:0010808
38 round face 32 HP:0000311
39 ventricular septal defect 32 HP:0001629
40 flat occiput 32 HP:0005469
41 high forehead 32 HP:0000348
42 hyporeflexia 32 HP:0001265
43 optic disc pallor 32 HP:0000543
44 brushfield spots 32 HP:0001088
45 polymicrogyria 32 HP:0002126
46 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
47 prolonged neonatal jaundice 32 HP:0006579
48 brachyturricephaly 32 HP:0000244
49 breech presentation 32 HP:0001623
50 pulmonary hypoplasia 32 HP:0002089

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
flat occiput
large fontanelles
turribrachycephaly

Neurologic Central Nervous System:
seizures
polymicrogyria
subependymal cysts
hypoplastic olfactory lobes
hypotonia
more
Abdomen Liver:
hepatomegaly
prolonged neonatal jaundice
intrahepatic biliary dysgenesis
absent liver peroxisomes

Laboratory Abnormalities:
aminoaciduria
albuminuria
decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity
elevated long chain fatty acids
elevated serum iron and iron binding capacity
more
Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Limbs:
metatarsus adductus
cubitus valgus

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Mouth:
protruding tongue
high arched palate

Respiratory Lung:
pulmonary hypoplasia

Chest External Features:
bell-shaped thorax

Skeletal Hands:
transverse palmar crease
ulnar deviation of hands

Skeletal:
delayed bone age
stippled epiphyses (especially patellar and acetabular regions)

Head And Neck Neck:
redundant skin folds of neck

Endocrine Features:
small adrenal glands

Head And Neck Eyes:
hypertelorism
nystagmus
abnormal electroretinogram
glaucoma
brushfield spots
more
Growth Other:
failure to thrive

Head And Neck Nose:
anteverted nares

Head And Neck Face:
micrognathia
flat face
round face
high forehead

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
rocker-bottom feet

Genitourinary Kidneys:
hydronephrosis
renal cortical microcysts
absent renal peroxisomes

Genitourinary External Genitalia Female:
clitoromegaly

Head And Neck Ears:
posteriorly rotated ears
sensorineural deafness
abnormal helices

Skeletal Skull:
wide cranial sutures

Skin Nails Hair Skin:
transverse palmar crease

Cardiovascular Heart:
ventricular septal defects

Abdomen Gastrointestinal:
pyloric hypertrophy

Clinical features from OMIM:

214100

UMLS symptoms related to Peroxisome Biogenesis Disorder 1a:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 8.96 PEX13 PEX3
2 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 8.92 GATAD1 PEX13 PEX3 PEX5

MGI Mouse Phenotypes related to Peroxisome Biogenesis Disorder 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 PEX1 PEX13 PEX2 PEX26 PEX3 PEX5
2 liver/biliary system MP:0005370 8.92 PEX1 PEX13 PEX2 PEX5

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1a

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gastrointestinal Agents Phase 3
2 Cholic Acids Phase 3
3 Bile Acids and Salts Phase 3
4 Liver Extracts Phase 3
5
Hydroxychloroquine Approved Phase 2 118-42-3 3652
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Tocotrienol Investigational Phase 2 6829-55-6
16 Antimalarials Phase 2
17 Antiparasitic Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antiprotozoal Agents Phase 2
20 Antirheumatic Agents Phase 2
21 Alkylating Agents Phase 2
22 Tocotrienols Phase 2
23 Alpha-lipoic Acid Phase 2
24 Antilymphocyte Serum Phase 2
25 Tocopherols Phase 2
26 N-monoacetylcystine Phase 2
27 Immunosuppressive Agents Phase 2
28 Vitamins Phase 2
29 Thioctic Acid Phase 2
30 Antimetabolites Phase 2
31 Immunologic Factors Phase 2
32 Antimetabolites, Antineoplastic Phase 2
33 Antineoplastic Agents, Alkylating Phase 2
34
Aspirin Approved, Vet_approved Early Phase 1 50-78-2 2244
35
chenodeoxycholic acid Approved 474-25-9 10133
36
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
37 Analgesics Early Phase 1
38 Analgesics, Non-Narcotic Early Phase 1
39 Cyclooxygenase Inhibitors Early Phase 1
40 Fibrinolytic Agents Early Phase 1
41 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
42 Peripheral Nervous System Agents Early Phase 1
43 Platelet Aggregation Inhibitors Early Phase 1
44 Anti-Inflammatory Agents Early Phase 1
45 Antipyretics Early Phase 1
46 Cathartics
47 Laxatives

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism." This Study Was Previously Registered by the NCRR and Identified as NCRR-M01RR08084-0009 Completed NCT00007020 Phase 3 Cholic Acids
2 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
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 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
5 Randomized Controlled Trial of Aspirin vs Placebo in the Treatment of Patients With the Clinical Risk Syndrome for Psychosis Recruiting NCT02047539 Early Phase 1 Aspirin;Placebo
6 Cognitive Behavioral Social Skills Training for Youth at Risk of Psychosis Recruiting NCT02234258
7 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search NIH Clinical Center for Peroxisome Biogenesis Disorder 1a

Genetic Tests for Peroxisome Biogenesis Disorder 1a

Genetic tests related to Peroxisome Biogenesis Disorder 1a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 1a (zellweger) 29 PEX1
2 Peroxisome Biogenesis Disorder, Complementation Group 1 29

Anatomical Context for Peroxisome Biogenesis Disorder 1a

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

41
Liver, Skin, Bone, Tongue, Adrenal Gland, Kidney, Testes

Publications for Peroxisome Biogenesis Disorder 1a

Articles related to Peroxisome Biogenesis Disorder 1a:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 8 71
26387595 2015
2
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 8 71
9539740 1998
3
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 8 71
9398847 1997
4
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 8 71
9398848 1997
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 71
22871920 2012
6
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 8
21031596 2011
7
Peroxisome biogenesis disorders. 71
17055079 2006
8
High incidence of hyperoxaluria in generalized peroxisomal disorders. 8
16621644 2006
9
Metabolic and molecular basis of peroxisomal disorders: a review. 8
15098234 2004
10
Zellweger Spectrum Disorder 71
20301621 2003
11
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 71
12402331 2002
12
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. 8
12024045 2002
13
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 71
10384394 1999
14
Identification of a common PEX1 mutation in Zellweger syndrome. 71
10447258 1999
15
PEX genes on the rise. 8
9090374 1997
16
Peroxisome biogenesis. 8
9008417 1997
17
A unified nomenclature for peroxisome biogenesis factors. 8
8858157 1996
18
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. 8
8533807 1995
19
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 8
7541833 1995
20
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 8
7681622 1993
21
Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders. 8
8450067 1993
22
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 71
1301993 1992
23
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. 8
1946426 1991
24
Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans. 8
1885782 1991
25
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. 71
2063923 1991
26
Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis. 8
2249933 1990
27
Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome. 8
2241949 1990
28
The inborn errors of peroxisomal beta-oxidation: a review. 8
2109148 1990
29
Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. 8
2606480 1989
30
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. 8
2463966 1989
31
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. 8
3169748 1988
32
Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. 8
3412850 1988
33
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 8
2454948 1988
34
Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly. 8
3281254 1988
35
Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders. 8
3680527 1987
36
Platelet-activating factor: mediator of the third pathway of platelet aggregation? A study in three patients with deficient platelet-activating factor synthesis. 8
3805272 1987
37
Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome). 8
3538019 1986
38
Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants. 8
2427264 1986
39
The significance of hyperpipecolatemia in Zellweger syndrome. 8
3087161 1986
40
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. 8
3706414 1986
41
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells. 8
3732317 1986
42
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. 8
3955868 1986
43
In vivo and vitro studies on formation of bile acids in patients with Zellweger syndrome. Evidence that peroxisomes are of importance in the normal biosynthesis of both cholic and chenodeoxycholic acid. 8
4077985 1985
44
A milder variant of Zellweger syndrome. 8
4076250 1985
45
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. 8
2995971 1985
46
Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger. 8
3973012 1985
47
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts. 8
3967038 1985
48
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. 8
6709009 1984
49
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. 8
6362411 1983
50
Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis. 8
6652941 1983

Variations for Peroxisome Biogenesis Disorder 1a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

6 (show top 50) (show all 729)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PEX1 NM_000466.3(PEX1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs766020928 7:92157748-92157748 7:92528434-92528434
2 PEX1 NM_000466.3(PEX1): c.3579del (p.Asp1194fs) deletion Pathogenic rs1554366802 7:92119085-92119085 7:92489771-92489771
3 PEX1 NC_000007.13: g.(?_92118587)_(92120836_?)del deletion Pathogenic 7:92118587-92120836 7:92489273-92491522
4 PEX1 NM_000466.3(PEX1): c.1906_2064del (p.Arg636_Leu688del) deletion Pathogenic
5 PEX1 NM_000466.3(PEX1): c.2097dup (p.Ile700fs) duplication Pathogenic rs61750415 7:92132484-92132484 7:92503170-92503170
6 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
7 PEX1 NM_000466.3(PEX1): c.3205C> T (p.Gln1069Ter) single nucleotide variant Pathogenic 7:92122269-92122269 7:92492955-92492955
8 PEX1 NM_000466.3(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 7:92130876-92130876 7:92501562-92501562
9 PEX1 NM_000466.3(PEX1): c.3379dup (p.Arg1127fs) duplication Pathogenic rs794729652 7:92120645-92120645 7:92491331-92491331
10 PEX1 NM_000466.3(PEX1): c.1239+1G> T single nucleotide variant Pathogenic rs756876301 7:92146589-92146589 7:92517275-92517275
11 PEX1 NM_000466.3(PEX1): c.1927del (p.Thr643fs) deletion Pathogenic 7:92134190-92134190 7:92504876-92504876
12 PEX3 NM_003630.3(PEX3): c.942-8T> G single nucleotide variant Pathogenic 6:143806281-143806281 6:143485144-143485144
13 PEX1 NM_000466.3(PEX1): c.2471del (p.Ala824fs) deletion Pathogenic 7:92130933-92130933 7:92501619-92501619
14 PEX1 NM_000466.3(PEX1): c.1163G> A (p.Trp388Ter) single nucleotide variant Pathogenic 7:92146666-92146666 7:92517352-92517352
15 PEX1 NM_000466.3(PEX1): c.1108dup (p.Ile370fs) duplication Pathogenic 7:92146721-92146721 7:92517415-92517415
16 PEX1 NM_000466.3(PEX1): c.2368C> T (p.Arg790Ter) single nucleotide variant Pathogenic 7:92131252-92131252 7:92501938-92501938
17 PEX1 NM_000466.3(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 7:92123800-92123800 7:92494486-92494486
18 PEX1 NM_000466.3(PEX1): c.3689_3692GTCA[1] (p.Gln1231fs) short repeat Pathogenic/Likely pathogenic rs769836601 7:92118678-92118681 7:92489364-92489367
19 PEX1 NM_000466.3(PEX1): c.2916del (p.Gly973fs) deletion Pathogenic/Likely pathogenic rs61750426 7:92123811-92123811 7:92494497-92494497
20 PEX1 NM_000466.3(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 7:92131237-92131237 7:92501923-92501923
21 PEX1 NM_000466.3(PEX1): c.782_783del (p.Gln261fs) deletion Pathogenic/Likely pathogenic rs749067142 7:92147046-92147047 7:92517732-92517733
22 PEX1 NM_000466.3(PEX1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic/Likely pathogenic rs766020928 7:92157748-92157748 7:92528434-92528434
23 PEX1 NM_000466.3(PEX1): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123409 7:92131390-92131390 7:92502076-92502076
24 PEX1 NM_000466.3(PEX1): c.1131del (p.Asp378fs) deletion Pathogenic/Likely pathogenic rs886043479 7:92146698-92146698 7:92517384-92517384
25 PEX1 NM_000466.3(PEX1): c.2992C> T (p.Arg998Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750428 7:92123645-92123645 7:92494331-92494331
26 PEX1 NM_000466.3(PEX1): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057517501 7:92157749-92157749 7:92528435-92528435
27 PEX1 NM_000466.3(PEX1): c.3208-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs1057517518 7:92120817-92120817 7:92491503-92491503
28 PEX1 NM_000466.3(PEX1): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic/Likely pathogenic rs149806989 7:92147282-92147282 7:92517968-92517968
29 PEX1 NM_000466.3(PEX1): c.2922del (p.Leu974fs) deletion Pathogenic/Likely pathogenic rs762324548 7:92123805-92123805 7:92494491-92494491
30 PEX1 NM_000466.3(PEX1): c.1908del (p.Arg636fs) deletion Pathogenic/Likely pathogenic rs1057517478 7:92134209-92134209 7:92504895-92504895
31 PEX1 NM_000466.3(PEX1): c.5G> A (p.Trp2Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762679408 7:92157745-92157745 7:92528431-92528431
32 PEX1 NM_000466.3(PEX1): c.3574C> T (p.Gln1192Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517467 7:92119090-92119090 7:92489776-92489776
33 PEX1 NM_000466.3(PEX1): c.3547G> T (p.Glu1183Ter) single nucleotide variant Likely pathogenic rs1057517480 7:92119117-92119117 7:92489803-92489803
34 PEX1 NM_000466.3(PEX1): c.3451_3452CT[2] (p.Ser1152fs) short repeat Likely pathogenic rs759183382 7:92119208-92119209 7:92489894-92489895
35 PEX1 NM_000466.3(PEX1): c.3237_3238del (p.Leu1081fs) deletion Likely pathogenic rs1057517509 7:92120786-92120787 7:92491472-92491473
36 PEX1 NM_000466.3(PEX1): c.3332_3354del (p.Ser1110_Leu1111insTer) deletion Likely pathogenic rs1554367358 7:92120669-92120692 7:92491356-92491378
37 PEX1 NM_000466.3(PEX1): c.3451_3452CT[4] (p.Ala1153fs) short repeat Likely pathogenic rs759183382 7:92119207-92119207 7:92489894-92489895
38 PEX1 NM_000466.3(PEX1): c.3626del (p.Ser1209fs) deletion Likely pathogenic rs1554366766 7:92119037-92119038 7:92489724-92489724
39 PEX1 NM_000466.3(PEX1): c.3578_3579GA[1] (p.Asp1194fs) short repeat Likely pathogenic rs1160117945 7:92119082-92119084 7:92489769-92489770
40 PEX1 NM_000466.3(PEX1): c.3207+2C> A single nucleotide variant Likely pathogenic rs1554368097 7:92122265-92122265 7:92492951-92492951
41 PEX1 NM_000466.3(PEX1): c.2852dup (p.His951fs) duplication Likely pathogenic rs767877383 7:92123874-92123874 7:92494561-92494561
42 PEX1 NM_000466.3(PEX1): c.2488_2489dup (p.Asn830fs) duplication Likely pathogenic rs1554370868 7:92130914-92130914 7:92501601-92501602
43 PEX1 NM_000466.3(PEX1): c.2489dup (p.Asn830fs) duplication Likely pathogenic rs1554370868 7:92130914-92130914 7:92501601-92501601
44 PEX1 NM_000466.3(PEX1): c.1439del (p.Leu480fs) deletion Likely pathogenic rs1554373787 7:92140937-92140938 7:92511624-92511624
45 PEX1 NM_000466.3(PEX1): c.472+1G> A single nucleotide variant Likely pathogenic rs762852144 7:92147454-92147454 7:92518140-92518140
46 PEX1 NM_000466.3(PEX1): c.273+1G> A single nucleotide variant Likely pathogenic rs1554376597 7:92151415-92151415 7:92522101-92522101
47 PEX1 NM_000466.3(PEX1): c.2071+2T> C single nucleotide variant Likely pathogenic rs1478905473 7:92134044-92134044 7:92504730-92504730
48 PEX1 NM_000466.3(PEX1): c.1927dup (p.Thr643fs) duplication Likely pathogenic rs1554372180 7:92134189-92134189 7:92504876-92504876
49 PEX1 NM_000466.3(PEX1): c.760dup (p.Ser254fs) duplication Likely pathogenic rs1554375511 7:92147068-92147068 7:92517755-92517755
50 PEX1 NM_000466.3(PEX1): c.1897C> T (p.Arg633Ter) single nucleotide variant Likely pathogenic rs61750409 7:92135565-92135565 7:92506251-92506251

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

74
# Symbol AA change Variation ID SNP ID
1 PEX1 p.Leu664Pro VAR_008876 rs121434455
2 PEX1 p.Gly843Asp VAR_008877 rs61750420
3 PEX1 p.Leu590Arg VAR_058376
4 PEX1 p.Gly593Arg VAR_058377 rs61750407
5 PEX1 p.Arg798Gly VAR_058378 rs61750419
6 PEX1 p.Ala1237Glu VAR_058380 rs147385857

Expression for Peroxisome Biogenesis Disorder 1a

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

Pathways for Peroxisome Biogenesis Disorder 1a

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

# Super pathways Score Top Affiliating Genes
1 11.02 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1

GO Terms for Peroxisome Biogenesis Disorder 1a

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

# Name GO ID Score Top Affiliating Genes
1 integral component of peroxisomal membrane GO:0005779 9.46 PEX3 PEX26 PEX2 PEX13
2 peroxisome GO:0005777 9.43 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1
3 peroxisomal membrane GO:0005778 9.1 PEX5 PEX3 PEX26 PEX2 PEX13 PEX1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.73 PEX5 PEX26 PEX13 PEX1
2 protein ubiquitination GO:0016567 9.65 PEX5 PEX2 PEX13
3 neuron migration GO:0001764 9.49 PEX5 PEX13
4 fatty acid beta-oxidation GO:0006635 9.46 PEX5 PEX2
5 peroxisome organization GO:0007031 9.46 PEX5 PEX3 PEX2 PEX1
6 protein import into peroxisome membrane GO:0045046 9.43 PEX5 PEX3 PEX26
7 cerebral cortex cell migration GO:0021795 9.4 PEX5 PEX13
8 protein import into peroxisome matrix, docking GO:0016560 9.37 PEX5 PEX13
9 protein targeting to peroxisome GO:0006625 9.35 PEX5 PEX26 PEX2 PEX13 PEX1
10 microtubule-based peroxisome localization GO:0060152 9.32 PEX13 PEX1
11 protein import into peroxisome matrix GO:0016558 8.92 PEX5 PEX26 PEX2 PEX1

Sources for Peroxisome Biogenesis Disorder 1a

3 CDC
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