PBD1A
MCID: PRX059
MIFTS: 56

Peroxisome Biogenesis Disorder 1a (PBD1A)

Categories: Ear 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 72 29 13 6
Cerebrohepatorenal Syndrome 57 72
Zellweger Syndrome 72 70
Pbd1a 57 72
Zws 57 72
Chr 57 73
Zs 57 72
Peroxisome Biogenesis Disorder, Complementation Group 1 29
Peroxisome Biogenesis Disorder Complementation Group 1 72
Peroxisome Biogenesis Disorder Complementation Group E 72
Cerebrohepatorenal Syndrome, Variant Types 6
Peroxisome Biogenesis Disorder, Type 1a 39
Peroxisome Biogenesis Disorder Type 1a 6
Cerebrohepatorenal Syndrome; Chr 57
Cerebro-Hepato-Renal Syndrome 72
Zellweger's Syndrome 72
Chr Syndrome 72
Zs; Zws 57
Pbd-Cge 72
Pbd-Cg1 72
Cg1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
breech presentation
genetic heterogeneity
death usually in first year of life
infants occasionally mistaken as having down syndrome

Inheritance:
autosomal recessive


HPO:

31
peroxisome biogenesis disorder 1a:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Peroxisome Biogenesis Disorder 1a

UniProtKB/Swiss-Prot : 72 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).

MalaCards based summary : Peroxisome Biogenesis Disorder 1a, also known as cerebrohepatorenal syndrome, is related to heimler syndrome 1 and peroxisome biogenesis disorder 6b, 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 Liver Extracts and Hydroxychloroquine have been mentioned in the context of this disorder. Affiliated tissues include liver, tongue and bone, and related phenotypes are macrocephaly and failure to thrive

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

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) (Updated 05-Apr-2021)

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 196)
# Related Disease Score Top Affiliating Genes
1 heimler syndrome 1 31.5 PEX6 PEX1 GATAD1
2 peroxisome biogenesis disorder 6b 31.3 PLCH2 PEX10
3 peroxisome biogenesis disorder 11a 31.2 PUS10 PEX13
4 peroxisome biogenesis disorder 11b 31.1 PUS10 PEX13
5 peroxisome biogenesis disorder 6a 31.0 RER1 PLCH2 PEX10
6 rhizomelic chondrodysplasia punctata, type 1 29.8 PEX6 PEX5 PEX13
7 acatalasemia 29.8 PEX3 PEX19
8 refsum disease, classic 29.3 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
9 sensorineural hearing loss 29.1 PEX6 PEX5 PEX26 PEX12 PEX10 PEX1
10 zellweger spectrum disorder 28.6 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
11 peroxisomal biogenesis disorder 28.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 zellweger syndrome 28.4 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
13 chondrodysplasia punctata syndrome 28.4 PEX6 PEX5 PEX26 PEX2 PEX19 PEX16
14 peroxisome biogenesis disorder 1b 28.3 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
15 adrenoleukodystrophy 28.0 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
16 peroxisomal disease 27.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
17 rhizomelic chondrodysplasia punctata 27.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
18 leukodystrophy 27.6 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
19 neonatal adrenoleukodystrophy 27.2 PLCH2 PEX6 PEX5 PEX3 PEX26 PEX2
20 alpha-methylacetoacetic aciduria 11.2
21 peroxisome biogenesis disorder 14b 11.1
22 refsum disease, infantile form 11.1
23 d-bifunctional protein deficiency 11.0
24 peroxisomal acyl-coa oxidase deficiency 11.0
25 mental retardation, skeletal dysplasia, and abducens palsy 11.0
26 peroxisome biogenesis disorder 2a 11.0
27 peroxisome biogenesis disorder 3a 11.0
28 peroxisome biogenesis disorder 4a 11.0
29 peroxisome biogenesis disorder 5a 11.0
30 peroxisome biogenesis disorder 7a 11.0
31 peroxisome biogenesis disorder 8a 11.0
32 peroxisome biogenesis disorder 9b 11.0
33 peroxisome biogenesis disorder 10a 11.0
34 peroxisome biogenesis disorder 12a 11.0
35 peroxisome biogenesis disorder 13a 11.0
36 peroxisome biogenesis disorder 5b 11.0
37 peroxisome biogenesis disorder 4b 11.0
38 peroxisome biogenesis disorder 3b 11.0
39 peroxisome biogenesis disorder 7b 11.0
40 chronic sphenoidal sinusitis 10.9
41 combined hamartoma of the retina and retinal pigment epithelium 10.9
42 peroxisome biogenesis disorder 2b 10.9
43 peroxisome biogenesis disorder 8b 10.9
44 heimler syndrome 2 10.9
45 iron metabolism disease 10.2
46 cholestasis 10.2
47 adrenomyeloneuropathy 10.2
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
49 polymicrogyria 10.1
50 rhizomelic chondrodysplasia punctata, type 2 10.1 PEX5 PEX16

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:

31 (show top 50) (show all 68)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 high palate 31 HP:0000218
5 macroglossia 31 HP:0000158
6 cataract 31 HP:0000518
7 hepatomegaly 31 HP:0002240
8 delayed skeletal maturation 31 HP:0002750
9 hypertelorism 31 HP:0000316
10 abnormality of the helix 31 HP:0011039
11 sensorineural hearing impairment 31 HP:0000407
12 anteverted nares 31 HP:0000463
13 aminoaciduria 31 HP:0003355
14 intellectual disability, severe 31 HP:0010864
15 opacification of the corneal stroma 31 HP:0007759
16 abnormal electroretinogram 31 HP:0000512
17 metatarsus adductus 31 HP:0001840
18 epiphyseal stippling 31 HP:0010655
19 flat face 31 HP:0012368
20 cryptorchidism 31 HP:0000028
21 cubitus valgus 31 HP:0002967
22 micrognathia 31 HP:0000347
23 high, narrow palate 31 HP:0002705
24 epicanthus 31 HP:0000286
25 talipes equinovarus 31 HP:0001762
26 intellectual disability, progressive 31 HP:0006887
27 glaucoma 31 HP:0000501
28 upslanted palpebral fissure 31 HP:0000582
29 protruding tongue 31 HP:0010808
30 patent ductus arteriosus 31 HP:0001643
31 hydronephrosis 31 HP:0000126
32 areflexia 31 HP:0001284
33 flat occiput 31 HP:0005469
34 malar flattening 31 HP:0000272
35 hypospadias 31 HP:0000047
36 ventricular septal defect 31 HP:0001629
37 high forehead 31 HP:0000348
38 hyporeflexia 31 HP:0001265
39 round face 31 HP:0000311
40 brushfield spots 31 HP:0001088
41 polymicrogyria 31 HP:0002126
42 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
43 brachyturricephaly 31 HP:0000244
44 prolonged neonatal jaundice 31 HP:0006579
45 optic disc pallor 31 HP:0000543
46 single transverse palmar crease 31 HP:0000954
47 rocker bottom foot 31 HP:0001838
48 pulmonary hypoplasia 31 HP:0002089
49 posteriorly rotated ears 31 HP:0000358
50 gray matter heterotopia 31 HP:0002282

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
flat occiput
large fontanelles
turribrachycephaly

Growth Other:
failure to thrive

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

Skeletal Feet:
talipes equinovarus
rocker-bottom feet

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
hypospadias

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

Neurologic Central Nervous System:
seizures
polymicrogyria
subependymal cysts
hypotonia
hypoplastic olfactory lobes
more
Head And Neck Eyes:
nystagmus
hypertelorism
abnormal electroretinogram
glaucoma
brushfield spots
more
Head And Neck Nose:
anteverted nares

Skeletal Limbs:
metatarsus adductus
cubitus valgus

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
protruding tongue
high arched palate

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 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 1a:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1a

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 3
2
Hydroxychloroquine Approved Phase 2 118-42-3 3652
3
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Tocopherol Approved, Investigational Phase 2 1406-66-2
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
12 Tocotrienol Investigational Phase 2 6829-55-6
13 Antimalarials Phase 2
14 Antirheumatic Agents Phase 2
15 Antiparasitic Agents Phase 2
16 Antiprotozoal Agents Phase 2
17 Anti-Infective Agents Phase 2
18 Alpha-lipoic Acid Phase 2
19 Vitamins Phase 2
20 Tocopherols Phase 2
21 Tocotrienols Phase 2
22 Antilymphocyte Serum Phase 2
23 N-monoacetylcystine Phase 2
24 Thioctic Acid Phase 2
25
chenodeoxycholic acid Approved 474-25-9 10133
26
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
27 Cholic Acids
28 Gastrointestinal Agents
29 Bile Acids and Salts
30 Cathartics
31 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 Completed NCT00007020 Phase 3 Cholic Acids
2 Hydroxychloroquine Administration for Reduction of Pexophagy Completed 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 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
6 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:

40
Liver, Tongue, Bone, Skin, Eye

Publications for Peroxisome Biogenesis Disorder 1a

Articles related to Peroxisome Biogenesis Disorder 1a:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. 6 57
26387595 2015
2
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 57 6
21031596 2011
3
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 57 6
9539740 1998
4
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 57 6
9398847 1997
5
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 57 6
9398848 1997
6
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
7
Development and validation of a severity scoring system for Zellweger spectrum disorders. 6
28857144 2018
8
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
9
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 6
27848944 2017
10
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing. 6
27872819 2016
11
Cholic acid therapy in Zellweger spectrum disorders. 6
27469511 2016
12
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 6
27353947 2016
13
Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections. 6
27090541 2016
14
Low bone mineral density is a common feature of Zellweger spectrum disorders. 6
26643206 2016
15
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 6
26287655 2016
16
Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. 6
27882258 2016
17
Friedreich Ataxia in Classical Galactosaemia. 6
26219880 2016
18
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
19
Repository of mutations from Oman: The entry point to a national mutation database. 6
26594346 2015
20
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
21
The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder. 6
24503136 2014
22
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. 6
23247051 2013
23
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
24
Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients. 6
21846392 2011
25
Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence. 6
21844578 2011
26
Germinal matrix hemorrhage in Zellweger syndrome. 6
20952722 2010
27
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 6
19105186 2009
28
Peroxisome biogenesis disorders. 6
17055079 2006
29
High incidence of hyperoxaluria in generalized peroxisomal disorders. 57
16621644 2006
30
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. 6
16086329 2005
31
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. 6
16141001 2005
32
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms. 6
16088892 2005
33
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
34
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. 6
15098231 2004
35
Metabolic and molecular basis of peroxisomal disorders: a review. 57
15098234 2004
36
Zellweger Spectrum Disorder 6
20301621 2003
37
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 6
12402331 2002
38
PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease. 6
12032265 2002
39
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. 57
12024045 2002
40
Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. 6
11439091 2001
41
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. 6
11389485 2001
42
A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype. 6
10480353 1999
43
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
44
Identification of a common PEX1 mutation in Zellweger syndrome. 6
10447258 1999
45
PEX genes on the rise. 57
9090374 1997
46
Peroxisome biogenesis. 57
9008417 1997
47
A unified nomenclature for peroxisome biogenesis factors. 57
8858157 1996
48
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. 57
8533807 1995
49
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 57
7541833 1995
50
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 6
7719337 1995

Variations for Peroxisome Biogenesis Disorder 1a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

6 (show top 50) (show all 780)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATAD1 , PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) Duplication Pathogenic 203390 rs794729652 GRCh37: 7:92120644-92120645
GRCh38: 7:92491330-92491331
2 PEX1 NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) Deletion Pathogenic 7518 rs1554372074 GRCh37:
GRCh38:
3 PEX1 PEX1, 1-BP DEL, 2916A Deletion Pathogenic 7520 GRCh37:
GRCh38:
4 GATAD1 , PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) Duplication Pathogenic 203390 rs794729652 GRCh37: 7:92120644-92120645
GRCh38: 7:92491330-92491331
5 GATAD1 , PEX1 NC_000007.14:g.(?_92489273)_(92491522_?)del Deletion Pathogenic 528228 GRCh37: 7:92118587-92120836
GRCh38: 7:92489273-92491522
6 GATAD1 , PEX1 NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) SNV Pathogenic 561079 rs1562846113 GRCh37: 7:92122269-92122269
GRCh38: 7:92492955-92492955
7 PEX3 NM_003630.3(PEX3):c.942-8T>G SNV Pathogenic 631556 rs267608193 GRCh37: 6:143806281-143806281
GRCh38: 6:143485144-143485144
8 PEX1 NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) SNV Pathogenic 639480 rs1585254187 GRCh37: 7:92146666-92146666
GRCh38: 7:92517352-92517352
9 PEX1 NM_000466.3(PEX1):c.2471del (p.Ala824fs) Deletion Pathogenic 665163 rs1585231093 GRCh37: 7:92130933-92130933
GRCh38: 7:92501619-92501619
10 PEX6 NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) SNV Pathogenic 555170 rs61753229 GRCh37: 6:42933455-42933455
GRCh38: 6:42965717-42965717
11 GATAD1 , PEX1 NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) SNV Pathogenic 371716 rs1057517481 GRCh37: 7:92123852-92123852
GRCh38: 7:92494538-92494538
12 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) Deletion Pathogenic 813403 rs267608178 GRCh37: 7:92132492-92132496
GRCh38: 7:92503178-92503182
13 PEX1 NM_000466.3(PEX1):c.1126del (p.Glu376fs) Deletion Pathogenic 813450 rs751829426 GRCh37: 7:92146703-92146703
GRCh38: 7:92517389-92517389
14 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) SNV Pathogenic 810635 rs201415996 GRCh37: 7:92147524-92147524
GRCh38: 7:92518210-92518210
15 PEX1 NM_000466.3(PEX1):c.358-1G>T SNV Pathogenic 371714 rs1057517479 GRCh37: 7:92147570-92147570
GRCh38: 7:92518256-92518256
16 PEX1 NM_000466.3(PEX1):c.130-1G>T SNV Pathogenic 813453 rs1028247729 GRCh37: 7:92151560-92151560
GRCh38: 7:92522246-92522246
17 PEX1 NM_000466.3(PEX1):c.1483+1G>A SNV Pathogenic 830062 rs1585244586 GRCh37: 7:92140893-92140893
GRCh38: 7:92511579-92511579
18 PEX1 NM_000466.3(PEX1):c.1727dup (p.Arg577fs) Duplication Pathogenic 830063 rs1585238595 GRCh37: 7:92136383-92136384
GRCh38: 7:92507069-92507070
19 PEX1 NC_000007.14:g.(?_92509319)_(92509421_?)del Deletion Pathogenic 830618 GRCh37: 7:92138633-92138735
GRCh38:
20 PEX1 NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) SNV Pathogenic 844762 GRCh37: 7:92135645-92135645
GRCh38: 7:92506331-92506331
21 GATAD1 , PEX1 NM_000466.3(PEX1):c.3066_3067CT[2] (p.Leu1024fs) Microsatellite Pathogenic 861041 GRCh37: 7:92122403-92122404
GRCh38: 7:92493089-92493090
22 PEX1 NM_000466.3(PEX1):c.721del (p.Ser241fs) Deletion Pathogenic 591770 rs894289737 GRCh37: 7:92147108-92147108
GRCh38: 7:92517794-92517794
23 PEX1 NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) SNV Pathogenic 558040 rs762679408 GRCh37: 7:92157745-92157745
GRCh38: 7:92528431-92528431
24 GATAD1 , PEX1 NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) SNV Pathogenic 371716 rs1057517481 GRCh37: 7:92123852-92123852
GRCh38: 7:92494538-92494538
25 PEX1 NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) SNV Pathogenic 937534 GRCh37: 7:92130925-92130925
GRCh38: 7:92501611-92501611
26 GATAD1 , PEX1 NM_000466.3(PEX1):c.2926+1del Deletion Pathogenic 938252 GRCh37: 7:92123800-92123800
GRCh38: 7:92494486-92494486
27 GATAD1 , PEX1 NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer) Deletion Pathogenic 942086 GRCh37: 7:92123910-92123911
GRCh38: 7:92494596-92494597
28 PEX1 NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) Indel Pathogenic 965312 GRCh37: 7:92146994-92147010
GRCh38: 7:92517680-92517696
29 PEX1 NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) SNV Pathogenic 371721 rs1057517485 GRCh37: 7:92129050-92129050
GRCh38: 7:92499736-92499736
30 PEX1 NM_000466.3(PEX1):c.249del (p.Lys83fs) Deletion Pathogenic 954386 GRCh37: 7:92151440-92151440
GRCh38: 7:92522126-92522126
31 PEX1 NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) SNV Pathogenic 551013 rs1554375599 GRCh37: 7:92147260-92147260
GRCh38: 7:92517946-92517946
32 PEX1 NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) Indel Pathogenic 970432 GRCh37: 7:92131289-92131290
GRCh38: 7:92501975-92501976
33 GATAD1 , PEX1 NM_000466.3(PEX1):c.3003dup (p.Cys1002fs) Duplication Pathogenic 970709 GRCh37: 7:92123633-92123634
GRCh38: 7:92494319-92494320
34 PEX1 NM_000466.3(PEX1):c.2468del (p.Pro823fs) Deletion Pathogenic 596283 rs766947924 GRCh37: 7:92130936-92130936
GRCh38: 7:92501622-92501622
35 PEX1 NM_000466.3(PEX1):c.1108del (p.Ile370fs) Deletion Pathogenic 371779 rs61750406 GRCh37: 7:92146721-92146721
GRCh38: 7:92517407-92517407
36 GATAD1 , PEX1 NM_000466.3(PEX1):c.3579del (p.Asp1194fs) Deletion Pathogenic 488572 rs1554366802 GRCh37: 7:92119085-92119085
GRCh38: 7:92489771-92489771
37 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) SNV Pathogenic 371782 rs149806989 GRCh37: 7:92147282-92147282
GRCh38: 7:92517968-92517968
38 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) Microsatellite Pathogenic 188984 rs786204606 GRCh37: 7:92136394-92136395
GRCh38: 7:92507080-92507081
39 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) Deletion Pathogenic 188910 rs749067142 GRCh37: 7:92147046-92147047
GRCh38: 7:92517732-92517733
40 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) Deletion Pathogenic 188910 rs749067142 GRCh37: 7:92147046-92147047
GRCh38: 7:92517732-92517733
41 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) Microsatellite Pathogenic 188984 rs786204606 GRCh37: 7:92136394-92136395
GRCh38: 7:92507080-92507081
42 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
43 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) SNV Pathogenic 549898 rs61752124 GRCh37: 8:77896042-77896042
GRCh38: 8:76983806-76983806
44 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 GRCh37: 8:77896060-77896060
GRCh38: 8:76983824-76983824
45 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) Deletion Pathogenic 287499 rs764771123 GRCh37: 8:77896070-77896076
GRCh38: 8:76983834-76983840
46 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs) Deletion Pathogenic 139588 rs61752122 GRCh37: 8:77896132-77896136
GRCh38: 8:76983896-76983900
47 PEX1 NM_000466.3(PEX1):c.1927del (p.Thr643fs) Deletion Pathogenic 576112 rs1554372180 GRCh37: 7:92134190-92134190
GRCh38: 7:92504876-92504876
48 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) SNV Pathogenic 632939 rs61750417 GRCh37: 7:92131252-92131252
GRCh38: 7:92501938-92501938
49 GATAD1 , PEX1 NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) SNV Pathogenic 495880 rs61750428 GRCh37: 7:92123645-92123645
GRCh38: 7:92494331-92494331
50 PEX6 NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) SNV Pathogenic 217424 rs61753219 GRCh37: 6:42946068-42946068
GRCh38: 6:42978330-42978330

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

72
# 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 11.32 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19

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 membrane GO:0016020 10.17 RER1 PLCH2 PEX6 PEX5 PEX3 PEX26
2 peroxisomal membrane GO:0005778 9.73 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
3 integral component of peroxisomal membrane GO:0005779 9.7 PEX3 PEX26 PEX2 PEX16 PEX13 PEX12
4 peroxisomal importomer complex GO:1990429 9.43 PEX14 PEX13 PEX12
5 peroxisome GO:0005777 9.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.93 PEX5 PEX2 PEX14 PEX13 PEX12 PEX10
2 protein transport GO:0015031 9.89 PEX5 PEX26 PEX14 PEX13 PEX1
3 protein import into peroxisome matrix GO:0016558 9.81 PEX6 PEX5 PEX26 PEX2 PEX16 PEX14
4 protein import into peroxisome membrane GO:0045046 9.65 PEX5 PEX3 PEX26 PEX19 PEX16
5 peroxisome organization GO:0007031 9.65 PEX6 PEX5 PEX3 PEX2 PEX19 PEX16
6 protein import into peroxisome matrix, docking GO:0016560 9.58 PEX5 PEX14 PEX13
7 peroxisome membrane biogenesis GO:0016557 9.54 PEX3 PEX19 PEX16
8 very long-chain fatty acid metabolic process GO:0000038 9.51 PEX5 PEX2
9 protein import into peroxisome matrix, translocation GO:0016561 9.5 PEX6 PEX5 PEX14
10 cerebral cortex cell migration GO:0021795 9.48 PEX5 PEX13
11 microtubule-based peroxisome localization GO:0060152 9.43 PEX13 PEX1
12 protein targeting to peroxisome GO:0006625 9.36 PEX6 PEX5 PEX26 PEX2 PEX19 PEX16

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

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.33 PEX5 PEX19 PEX14
2 protein C-terminus binding GO:0008022 9.17 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10
3 peroxisome membrane targeting sequence binding GO:0033328 8.96 PEX5 PEX19

Sources for Peroxisome Biogenesis Disorder 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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