PBD-CG1
MCID: PRX059
MIFTS: 50

Peroxisome Biogenesis Disorder 1a (PBD-CG1)

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 58 12 76 13
Cerebrohepatorenal Syndrome 58 76
Zellweger Syndrome 76 74
Pbd1a 58 76
Zws 58 76
Chr 58 77
Zs 58 76
Peroxisome Biogenesis Disorder, Complementation Group 1 30
Peroxisome Biogenesis Disorder Complementation Group 1 76
Peroxisome Biogenesis Disorder Complementation Group E 76
Peroxisome Biogenesis Disorder, Type 1a 41
Cerebrohepatorenal Syndrome; Chr 58
Cerebro-Hepato-Renal Syndrome 76
Zellweger's Syndrome 76
Chr Syndrome 76
Zs; Zws 58
Pbd-Cge 76
Pbd-Cg1 76
Cg1 76

Characteristics:

OMIM:

58
Miscellaneous:
breech presentation
genetic heterogeneity
death usually in first year of life
infants occasionally mistaken as having down syndrome

Inheritance:
autosomal recessive


HPO:

33
peroxisome biogenesis disorder 1a:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 1a

OMIM : 58 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 syndrome and zellweger spectrum disorder, 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 Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include tongue, 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 : 76 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).

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

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 98)
# Related Disease Score Top Affiliating Genes
1 zellweger syndrome 31.4 PEX1 PEX10
2 zellweger spectrum disorder 31.3 PEX1 PEX10
3 peroxisome biogenesis disorder 1b 31.1 PEX1 PEX10
4 adrenoleukodystrophy 29.8 PEX1 PEX10
5 neonatal adrenoleukodystrophy 29.8 PEX1 PEX10
6 alpha-methylacetoacetic aciduria 11.5
7 refsum disease, classic 11.3
8 peroxisome biogenesis disorder 5b 11.3
9 refsum disease, infantile form 11.3
10 peroxisome biogenesis disorder 7b 11.3
11 peroxisome biogenesis disorder-zellweger syndrome spectrum 11.2
12 mental retardation, skeletal dysplasia, and abducens palsy 11.2
13 peroxisome biogenesis disorder 9b 11.2
14 peroxisome biogenesis disorder 14b 11.1
15 d-bifunctional protein deficiency 11.1
16 peroxisomal acyl-coa oxidase deficiency 11.1
17 heimler syndrome 1 11.1
18 heimler syndrome 2 11.1
19 chronic sphenoidal sinusitis 11.1
20 combined hamartoma of the retina and retinal pigment epithelium 11.1
21 peroxisome biogenesis disorder 2a 11.0
22 peroxisome biogenesis disorder 3a 11.0
23 peroxisome biogenesis disorder 4a 11.0
24 peroxisome biogenesis disorder 5a 11.0
25 peroxisome biogenesis disorder 6a 11.0
26 peroxisome biogenesis disorder 7a 11.0
27 peroxisome biogenesis disorder 8a 11.0
28 peroxisome biogenesis disorder 10a 11.0
29 peroxisome biogenesis disorder 11a 11.0
30 peroxisome biogenesis disorder 12a 11.0
31 peroxisome biogenesis disorder 13a 11.0
32 peroxisome biogenesis disorder 2b 11.0
33 peroxisome biogenesis disorder 3b 11.0
34 peroxisome biogenesis disorder 4b 11.0
35 peroxisome biogenesis disorder 6b 11.0
36 peroxisome biogenesis disorder 8b 11.0
37 peroxisome biogenesis disorder 11b 11.0
38 cystic fibrosis 10.3
39 chondrodysplasia punctata syndrome 10.2
40 rhizomelic chondrodysplasia punctata 10.2
41 adrenomyeloneuropathy 10.2
42 digeorge syndrome 10.2
43 leukodystrophy 10.2
44 hyperinsulinemic hypoglycemia 10.2
45 hypoglycemia 10.2
46 deafness-infertility syndrome 10.2
47 constipation 10.2
48 al-raqad syndrome 10.2
49 peroxisomal biogenesis disorder 10.1
50 myopathy 10.1

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:

33 (show top 50) (show all 68)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 malar flattening 33 HP:0000272
3 hypertelorism 33 HP:0000316
4 high palate 33 HP:0000218
5 nystagmus 33 HP:0000639
6 seizures 33 HP:0001250
7 muscular hypotonia 33 HP:0001252
8 failure to thrive 33 HP:0001508
9 macroglossia 33 HP:0000158
10 cataract 33 HP:0000518
11 hepatomegaly 33 HP:0002240
12 delayed skeletal maturation 33 HP:0002750
13 abnormality of the helix 33 HP:0011039
14 sensorineural hearing impairment 33 HP:0000407
15 anteverted nares 33 HP:0000463
16 aminoaciduria 33 HP:0003355
17 intellectual disability, severe 33 HP:0010864
18 micrognathia 33 HP:0000347
19 opacification of the corneal stroma 33 HP:0007759
20 patent ductus arteriosus 33 HP:0001643
21 epicanthus 33 HP:0000286
22 abnormal electroretinogram 33 HP:0000512
23 cryptorchidism 33 HP:0000028
24 metatarsus adductus 33 HP:0001840
25 epiphyseal stippling 33 HP:0010655
26 flat face 33 HP:0012368
27 cubitus valgus 33 HP:0002967
28 high, narrow palate 33 HP:0002705
29 talipes equinovarus 33 HP:0001762
30 intellectual disability, progressive 33 HP:0006887
31 hypospadias 33 HP:0000047
32 glaucoma 33 HP:0000501
33 upslanted palpebral fissure 33 HP:0000582
34 protruding tongue 33 HP:0010808
35 round face 33 HP:0000311
36 ventricular septal defect 33 HP:0001629
37 areflexia 33 HP:0001284
38 flat occiput 33 HP:0005469
39 high forehead 33 HP:0000348
40 hyporeflexia 33 HP:0001265
41 optic disc pallor 33 HP:0000543
42 hydronephrosis 33 HP:0000126
43 polymicrogyria 33 HP:0002126
44 aplasia/hypoplasia of the corpus callosum 33 HP:0007370
45 prolonged neonatal jaundice 33 HP:0006579
46 brachyturricephaly 33 HP:0000244
47 breech presentation 33 HP:0001623
48 pulmonary hypoplasia 33 HP:0002089
49 generalized hypotonia 33 HP:0001290
50 single transverse palmar crease 33 HP:0000954

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
flat occiput
large fontanelles
turribrachycephaly

Neurologic Central Nervous System:
seizures
polymicrogyria
subependymal cysts
hypotonia
severe mental retardation
more
Abdomen Liver:
hepatomegaly
prolonged neonatal jaundice
absent liver peroxisomes
intrahepatic biliary dysgenesis

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

Skeletal Limbs:
metatarsus adductus
cubitus valgus

Genitourinary External Genitalia Male:
hypospadias

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 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
pigmentary retinopathy
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

Head And Neck Mouth:
protruding tongue
high arched palate

Respiratory Lung:
pulmonary hypoplasia

Chest External Features:
bell-shaped thorax

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

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1a

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cholic Acids Phase 3,Not Applicable
2 Gastrointestinal Agents Phase 3,Not Applicable
3 Bile Acids and Salts Phase 3,Not Applicable
4 Liver Extracts Phase 3
5
Hydroxychloroquine Approved Phase 2 118-42-3 3652
6
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
rituximab Approved Phase 2 174722-31-7 10201696
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
13
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Tocotrienol Investigational Phase 2 6829-55-6
16 Antirheumatic Agents Phase 2
17 Antiparasitic Agents Phase 2
18 Anti-Infective Agents Phase 2
19 Antimalarials Phase 2
20 Antiprotozoal Agents Phase 2
21 Immunosuppressive Agents Phase 2
22 Antineoplastic Agents, Alkylating Phase 2
23 Immunologic Factors Phase 2
24 Tocopherols Phase 2
25 Antimetabolites, Antineoplastic Phase 2
26 Thioctic Acid Phase 2
27 Antimetabolites Phase 2
28 Vitamins Phase 2
29 Tocotrienols Phase 2
30 Alkylating Agents Phase 2
31 Antilymphocyte Serum Phase 2
32 N-monoacetylcystine Phase 2
33 Alpha-lipoic Acid Phase 2
34
Ursodeoxycholic acid Approved, Investigational Not Applicable 128-13-2 31401
35
chenodeoxycholic acid Approved Not Applicable 474-25-9 10133
36 Cathartics Not Applicable
37 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 Hydroxychloroquine Administration for Reduction of Pexophagy Recruiting NCT03856866 Phase 2 Hydroxychloroquine;Placebo
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 Proxy-Reported Symptoms and Quality of Life Survey in Zellweger Spectrum Disorders Completed NCT03440905
5 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 1a

Genetic Tests for Peroxisome Biogenesis Disorder 1a

Genetic tests related to Peroxisome Biogenesis Disorder 1a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder, Complementation Group 1 30

Anatomical Context for Peroxisome Biogenesis Disorder 1a

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

42
Tongue, Skin, Bone, Heart, Adrenal Gland, Eye, Retina

Publications for Peroxisome Biogenesis Disorder 1a

Articles related to Peroxisome Biogenesis Disorder 1a:

(show all 17)
# Title Authors Year
1
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. ( 8533807 )
1995
2
Cerebrohepatorenal syndrome of Zellweger: a peroxisomal deficiency disorder. Case report and review. ( 3042692 )
1988
3
History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders. ( 2450404 )
1988
4
Cerebrohepatorenal syndrome. ( 3450667 )
1987
5
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. ( 2879480 )
1986
6
Adrenoleukodystrophy, cerebrohepatorenal syndrome (Zellweger syndrome), and peroxisomes. ( 4095031 )
1985
7
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome. ( 3969102 )
1985
8
[Diagnosis of Zellweger's cerebrohepatorenal syndrome]. ( 6528320 )
1984
9
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. ( 6624831 )
1983
10
Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A. ( 6321855 )
1983
11
Ultrastructure of the liver in th cerebrohepatorenal syndrome of Zellweger. ( 6322395 )
1983
12
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. ( 6362411 )
1983
13
[A child with Zellweger's cerebrohepatorenal syndrome]. ( 6879587 )
1983
14
Giant cell transformation cerebrohepatorenal syndrome. ( 581453 )
1978
15
Cellular immunity in cerebrohepatorenal syndrome of Zellweger. ( 62254 )
1976
16
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. ( 4470905 )
1974
17
Roentgenographic features of the cerebrohepatorenal syndrome of Zellweger. ( 5038640 )
1972

Variations for Peroxisome Biogenesis Disorder 1a

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

76
# 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

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

6 (show top 50) (show all 1436)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh37 Chromosome 22, 18561276: 18561276
2 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh38 Chromosome 22, 18078510: 18078510
3 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
4 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
5 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
6 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh38 Chromosome 7, 92504812: 92504812
7 PEX1 NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del) deletion Pathogenic
8 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
9 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
10 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
11 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh37 Chromosome 6, 42946682: 42946682
12 PEX6 NM_000287.3(PEX6): c.207C> T (p.Pro69=) single nucleotide variant Benign/Likely benign rs11539736 GRCh38 Chromosome 6, 42978944: 42978944
13 PEX6 NM_000287.3(PEX6): c.235G> C (p.Ala79Pro) single nucleotide variant Benign/Likely benign rs61752141 GRCh37 Chromosome 6, 42946654: 42946654
14 PEX6 NM_000287.3(PEX6): c.235G> C (p.Ala79Pro) single nucleotide variant Benign/Likely benign rs61752141 GRCh38 Chromosome 6, 42978916: 42978916
15 PEX6 NM_000287.3(PEX6): c.2364G> A (p.Val788=) single nucleotide variant Benign/Likely benign rs2274515 GRCh37 Chromosome 6, 42933526: 42933526
16 PEX6 NM_000287.3(PEX6): c.2364G> A (p.Val788=) single nucleotide variant Benign/Likely benign rs2274515 GRCh38 Chromosome 6, 42965788: 42965788
17 PEX6 NM_000287.3(PEX6): c.2814G> A (p.Glu938=) single nucleotide variant Benign rs1129186 GRCh37 Chromosome 6, 42932202: 42932202
18 PEX6 NM_000287.3(PEX6): c.2814G> A (p.Glu938=) single nucleotide variant Benign rs1129186 GRCh38 Chromosome 6, 42964464: 42964464
19 PEX6 NM_000287.3(PEX6): c.2816C> A (p.Pro939Gln) single nucleotide variant Benign rs1129187 GRCh37 Chromosome 6, 42932200: 42932200
20 PEX6 NM_000287.3(PEX6): c.2816C> A (p.Pro939Gln) single nucleotide variant Benign rs1129187 GRCh38 Chromosome 6, 42964462: 42964462
21 PEX6 NM_000287.3(PEX6): c.399G> T (p.Val133=) single nucleotide variant Benign rs9462858 GRCh37 Chromosome 6, 42946490: 42946490
22 PEX6 NM_000287.3(PEX6): c.399G> T (p.Val133=) single nucleotide variant Benign rs9462858 GRCh38 Chromosome 6, 42978752: 42978752
23 PEX6 NM_000287.3(PEX6): c.883-3T> C single nucleotide variant Benign rs9986447 GRCh37 Chromosome 6, 42942779: 42942779
24 PEX6 NM_000287.3(PEX6): c.883-3T> C single nucleotide variant Benign rs9986447 GRCh38 Chromosome 6, 42975041: 42975041
25 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh37 Chromosome 8, 77896324: 77896324
26 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh38 Chromosome 8, 76984088: 76984088
27 PEX1 NM_000466.2(PEX1): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123409 GRCh37 Chromosome 7, 92131390: 92131390
28 PEX1 NM_000466.2(PEX1): c.2230C> T (p.Gln744Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123409 GRCh38 Chromosome 7, 92502076: 92502076
29 PEX1 NM_000466.2(PEX1): c.2331C> A (p.Gly777=) single nucleotide variant Benign rs10278857 GRCh37 Chromosome 7, 92131289: 92131289
30 PEX1 NM_000466.2(PEX1): c.2331C> A (p.Gly777=) single nucleotide variant Benign rs10278857 GRCh38 Chromosome 7, 92501975: 92501975
31 PEX1 NM_000466.2(PEX1): c.2442C> T (p.Phe814=) single nucleotide variant Conflicting interpretations of pathogenicity rs145430946 GRCh37 Chromosome 7, 92130962: 92130962
32 PEX1 NM_000466.2(PEX1): c.2442C> T (p.Phe814=) single nucleotide variant Conflicting interpretations of pathogenicity rs145430946 GRCh38 Chromosome 7, 92501648: 92501648
33 PEX1 NM_000466.2(PEX1): c.2792C> A (p.Ala931Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144825021 GRCh37 Chromosome 7, 92123935: 92123935
34 PEX1 NM_000466.2(PEX1): c.2792C> A (p.Ala931Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144825021 GRCh38 Chromosome 7, 92494621: 92494621
35 PEX1 NM_000466.2(PEX1): c.330C> G (p.Pro110=) single nucleotide variant Conflicting interpretations of pathogenicity rs71560821 GRCh37 Chromosome 7, 92148336: 92148336
36 PEX1 NM_000466.2(PEX1): c.330C> G (p.Pro110=) single nucleotide variant Conflicting interpretations of pathogenicity rs71560821 GRCh38 Chromosome 7, 92519022: 92519022
37 PEX1 NM_000466.2(PEX1): c.358-15G> A single nucleotide variant Benign rs38809 GRCh37 Chromosome 7, 92147584: 92147584
38 PEX1 NM_000466.2(PEX1): c.358-15G> A single nucleotide variant Benign rs38809 GRCh38 Chromosome 7, 92518270: 92518270
39 PEX14 NM_004565.2(PEX14): c.384+14A> T single nucleotide variant Benign rs284238 GRCh37 Chromosome 1, 10678488: 10678488
40 PEX14 NM_004565.2(PEX14): c.384+14A> T single nucleotide variant Benign rs284238 GRCh38 Chromosome 1, 10618431: 10618431
41 PEX26 NM_017929.5(PEX26): c.728C> T (p.Ala243Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149153003 GRCh37 Chromosome 22, 18567938: 18567938
42 PEX26 NM_017929.5(PEX26): c.728C> T (p.Ala243Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149153003 GRCh38 Chromosome 22, 18085172: 18085172
43 PEX1 NM_000466.2(PEX1): c.2088A> G (p.Ile696Met) single nucleotide variant Benign/Likely benign rs35996821 GRCh37 Chromosome 7, 92132493: 92132493
44 PEX1 NM_000466.2(PEX1): c.2088A> G (p.Ile696Met) single nucleotide variant Benign/Likely benign rs35996821 GRCh38 Chromosome 7, 92503179: 92503179
45 PEX10 NM_153818.1(PEX10): c.279C> T (p.Gly93=) single nucleotide variant Benign/Likely benign rs1143016 GRCh37 Chromosome 1, 2340212: 2340212
46 PEX10 NM_153818.1(PEX10): c.279C> T (p.Gly93=) single nucleotide variant Benign/Likely benign rs1143016 GRCh38 Chromosome 1, 2408773: 2408773
47 PEX10 NM_153818.1(PEX10): c.291A> G (p.Thr97=) single nucleotide variant Benign rs2494598 GRCh37 Chromosome 1, 2340200: 2340200
48 PEX10 NM_153818.1(PEX10): c.291A> G (p.Thr97=) single nucleotide variant Benign rs2494598 GRCh38 Chromosome 1, 2408761: 2408761
49 PEX2 NM_000318.2(PEX2): c.748T> C (p.Trp250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142645936 GRCh37 Chromosome 8, 77895667: 77895667
50 PEX2 NM_000318.2(PEX2): c.748T> C (p.Trp250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs142645936 GRCh38 Chromosome 8, 76983431: 76983431

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 10.54 PEX1 PEX10

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 peroxisome GO:0005777 8.96 PEX1 PEX10
2 peroxisomal membrane GO:0005778 8.62 PEX1 PEX10

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

# Name GO ID Score Top Affiliating Genes
1 protein targeting to peroxisome GO:0006625 9.16 PEX1 PEX10
2 peroxisome organization GO:0007031 8.96 PEX1 PEX10
3 protein import into peroxisome matrix GO:0016558 8.62 PEX1 PEX10

Sources for Peroxisome Biogenesis Disorder 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
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45 MeSH
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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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