PBD1A
MCID: PRX059
MIFTS: 56

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 56 12 73 29 13 6
Cerebrohepatorenal Syndrome 56 73
Zellweger Syndrome 73 71
Pbd1a 56 73
Zws 56 73
Chr 56 74
Zs 56 73
Peroxisome Biogenesis Disorder, Complementation Group 1 29
Peroxisome Biogenesis Disorder Complementation Group 1 73
Peroxisome Biogenesis Disorder Complementation Group E 73
Peroxisome Biogenesis Disorder, Type 1a 39
Cerebrohepatorenal Syndrome; Chr 56
Cerebro-Hepato-Renal Syndrome 73
Zellweger's Syndrome 73
Chr Syndrome 73
Zs; Zws 56
Pbd-Cge 73
Pbd-Cg1 73
Cg1 73

Characteristics:

OMIM:

56
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 : 73 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 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 macroglossia and cataract

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 : 56 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)

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 188)
# Related Disease Score Top Affiliating Genes
1 heimler syndrome 1 32.2 PEX6 PEX1
2 peroxisome biogenesis disorder 6b 31.4 PLCH2 PEX10
3 peroxisome biogenesis disorder 11b 31.3 PUS10 PEX13
4 peroxisome biogenesis disorder 11a 31.2 PUS10 PEX13
5 peroxisome biogenesis disorder 6a 30.9 RER1 PLCH2 PEX10
6 acatalasemia 30.0 PEX5 PEX3
7 rhizomelic chondrodysplasia punctata, type 1 29.9 PEX6 PEX5 PEX13
8 refsum disease, classic 29.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX16
9 sensorineural hearing loss 29.1 PEX6 PEX26 PEX12 PEX10 PEX1
10 zellweger syndrome 28.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
11 zellweger spectrum disorder 28.5 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
12 chondrodysplasia punctata syndrome 28.4 PEX6 PEX5 PEX26 PEX2 PEX16 PEX13
13 peroxisome biogenesis disorder 1b 28.3 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
14 peroxisomal biogenesis disorder 27.4 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
15 adrenoleukodystrophy 27.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
16 neonatal adrenoleukodystrophy 27.2 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
17 leukodystrophy 26.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
18 peroxisomal disease 26.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
19 rhizomelic chondrodysplasia punctata 26.8 PEX6 PEX5 PEX3 PEX26 PEX2 PEX19
20 alpha-methylacetoacetic aciduria 11.7
21 peroxisome biogenesis disorder 14b 11.6
22 refsum disease, infantile form 11.5
23 peroxisome biogenesis disorder 5b 11.5
24 peroxisome biogenesis disorder 7b 11.4
25 mental retardation, skeletal dysplasia, and abducens palsy 11.4
26 peroxisome biogenesis disorder 9b 11.3
27 d-bifunctional protein deficiency 11.3
28 peroxisomal acyl-coa oxidase deficiency 11.3
29 heimler syndrome 2 11.2
30 chronic sphenoidal sinusitis 11.2
31 combined hamartoma of the retina and retinal pigment epithelium 11.2
32 peroxisome biogenesis disorder 2a 11.1
33 peroxisome biogenesis disorder 3a 11.1
34 peroxisome biogenesis disorder 4a 11.1
35 peroxisome biogenesis disorder 5a 11.1
36 peroxisome biogenesis disorder 7a 11.1
37 peroxisome biogenesis disorder 8a 11.1
38 peroxisome biogenesis disorder 10a 11.1
39 peroxisome biogenesis disorder 12a 11.1
40 peroxisome biogenesis disorder 13a 11.1
41 peroxisome biogenesis disorder 2b 11.1
42 peroxisome biogenesis disorder 3b 11.1
43 peroxisome biogenesis disorder 4b 11.1
44 peroxisome biogenesis disorder 8b 11.1
45 thrombocytopenia 10.5
46 argyria 10.5
47 iron metabolism disease 10.4
48 platelet groups--ko system 10.4
49 purpura 10.4
50 immune deficiency disease 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:

31 (show top 50) (show all 68)
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 HP:0000158
2 cataract 31 HP:0000518
3 hepatomegaly 31 HP:0002240
4 delayed skeletal maturation 31 HP:0002750
5 hypertelorism 31 HP:0000316
6 muscular hypotonia 31 HP:0001252
7 abnormality of the helix 31 HP:0011039
8 macrocephaly 31 HP:0000256
9 sensorineural hearing impairment 31 HP:0000407
10 anteverted nares 31 HP:0000463
11 failure to thrive 31 HP:0001508
12 aminoaciduria 31 HP:0003355
13 intellectual disability, severe 31 HP:0010864
14 opacification of the corneal stroma 31 HP:0007759
15 nystagmus 31 HP:0000639
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 high palate 31 HP:0000218
23 micrognathia 31 HP:0000347
24 high, narrow palate 31 HP:0002705
25 epicanthus 31 HP:0000286
26 talipes equinovarus 31 HP:0001762
27 intellectual disability, progressive 31 HP:0006887
28 glaucoma 31 HP:0000501
29 upslanted palpebral fissure 31 HP:0000582
30 protruding tongue 31 HP:0010808
31 patent ductus arteriosus 31 HP:0001643
32 hydronephrosis 31 HP:0000126
33 areflexia 31 HP:0001284
34 flat occiput 31 HP:0005469
35 malar flattening 31 HP:0000272
36 hypospadias 31 HP:0000047
37 ventricular septal defect 31 HP:0001629
38 high forehead 31 HP:0000348
39 hyporeflexia 31 HP:0001265
40 round face 31 HP:0000311
41 brushfield spots 31 HP:0001088
42 polymicrogyria 31 HP:0002126
43 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
44 brachyturricephaly 31 HP:0000244
45 prolonged neonatal jaundice 31 HP:0006579
46 optic disc pallor 31 HP:0000543
47 single transverse palmar crease 31 HP:0000954
48 rocker bottom foot 31 HP:0001838
49 pulmonary hypoplasia 31 HP:0002089
50 posteriorly rotated ears 31 HP:0000358

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
prolonged neonatal jaundice
intrahepatic biliary dysgenesis
absent liver peroxisomes

Head And Neck Head:
macrocephaly
flat occiput
large fontanelles
turribrachycephaly

Head And Neck Nose:
anteverted nares

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

Head And Neck Eyes:
hypertelorism
nystagmus
abnormal electroretinogram
glaucoma
brushfield spots
more
Neurologic Central Nervous System:
seizures
polymicrogyria
subependymal cysts
hypoplastic olfactory lobes
hypotonia
more
Growth Other:
failure to thrive

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

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 43)
# 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
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
rituximab Approved Phase 2 174722-31-7 10201696
10
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
15 Tocotrienol Investigational Phase 2 6829-55-6
16 Anti-Infective Agents Phase 2
17 Antiparasitic Agents Phase 2
18 Antiprotozoal Agents Phase 2
19 Antirheumatic Agents Phase 2
20 Antimalarials Phase 2
21 Alpha-lipoic Acid Phase 2
22 Vitamins Phase 2
23 Thioctic Acid Phase 2
24 Tocopherols Phase 2
25 Tocotrienols Phase 2
26 N-monoacetylcystine Phase 2
27 Antilymphocyte Serum Phase 2
28
Aspirin Approved, Vet_approved Early Phase 1 50-78-2 2244
29
tannic acid Approved 1401-55-4
30
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
31
chenodeoxycholic acid Approved 474-25-9 10133
32
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
33 Analgesics, Non-Narcotic Early Phase 1
34 Fibrinolytic Agents Early Phase 1
35 Cyclooxygenase Inhibitors Early Phase 1
36 Platelet Aggregation Inhibitors Early Phase 1
37 Analgesics Early Phase 1
38 Antipyretics Early Phase 1
39 Anti-Inflammatory Agents Early Phase 1
40 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
41 Pharmaceutical Solutions
42 Laxatives
43 Cathartics

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 Family-Focused Therapy for Individuals at High Clinical Risk for Psychosis: A Confirmatory Efficacy Trial Not yet recruiting NCT04338152
8 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, Skin, Bone, Adrenal Gland, Tongue, 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. 56 6
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. 6 56
9539740 1998
3
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 56 6
9398847 1997
4
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6 56
9398848 1997
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
6
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 56
21031596 2011
7
Peroxisome biogenesis disorders. 6
17055079 2006
8
High incidence of hyperoxaluria in generalized peroxisomal disorders. 56
16621644 2006
9
Metabolic and molecular basis of peroxisomal disorders: a review. 56
15098234 2004
10
Zellweger Spectrum Disorder 6
20301621 2003
11
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 6
12402331 2002
12
PEX11 beta deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function. 56
12024045 2002
13
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
14
Identification of a common PEX1 mutation in Zellweger syndrome. 6
10447258 1999
15
PEX genes on the rise. 56
9090374 1997
16
Peroxisome biogenesis. 56
9008417 1997
17
A unified nomenclature for peroxisome biogenesis factors. 56
8858157 1996
18
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. 56
8533807 1995
19
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 56
7541833 1995
20
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 56
7681622 1993
21
Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders. 56
8450067 1993
22
Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. 6
1301993 1992
23
Low-density particles (W-particles) containing catalase in Zellweger syndrome and normal fibroblasts. 56
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. 56
1885782 1991
25
Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. 6
2063923 1991
26
Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome. 56
2241949 1990
27
Occurrence of cerebrohepatorenal (Zellweger) syndrome in the Karaite community in Israel: a genetic hypothesis. 56
2249933 1990
28
The inborn errors of peroxisomal beta-oxidation: a review. 56
2109148 1990
29
Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. 56
2606480 1989
30
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. 56
2463966 1989
31
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. 56
3169748 1988
32
Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis. 56
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. 56
2454948 1988
34
Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly. 56
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. 56
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. 56
3805272 1987
37
Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome). 56
3538019 1986
38
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. 56
3706414 1986
39
The significance of hyperpipecolatemia in Zellweger syndrome. 56
3087161 1986
40
Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants. 56
2427264 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. 56
3732317 1986
42
Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome. 56
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. 56
4077985 1985
44
A milder variant of Zellweger syndrome. 56
4076250 1985
45
Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts. 56
2995971 1985
46
Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger. 56
3973012 1985
47
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts. 56
3967038 1985
48
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. 56
6709009 1984
49
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. 56
6362411 1983
50
Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis. 56
6652941 1983

Variations for Peroxisome Biogenesis Disorder 1a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

6 (show top 50) (show all 406) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PEX1 NM_000466.3(PEX1):c.3579del (p.Asp1194fs)deletion Pathogenic 488572 rs1554366802 7:92119085-92119085 7:92489771-92489771
2 PEX1 NC_000007.14:g.(?_92489273)_(92491522_?)deldeletion Pathogenic 528228 7:92118587-92120836 7:92489273-92491522
3 PEX1 NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)SNV Pathogenic 561079 rs1562846113 7:92122269-92122269 7:92492955-92492955
4 PEX1 NM_000466.3(PEX1):c.721del (p.Ser241fs)deletion Pathogenic 591770 rs894289737 7:92147108-92147108 7:92517794-92517794
5 PEX1 NM_000466.3(PEX1):c.1927del (p.Thr643fs)deletion Pathogenic 576112 rs1554372180 7:92134190-92134190 7:92504876-92504876
6 PEX3 NM_003630.3(PEX3):c.942-8T>GSNV Pathogenic 631556 rs267608193 6:143806281-143806281 6:143485144-143485144
7 PEX1 NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)SNV Pathogenic 632939 rs61750417 7:92131252-92131252 7:92501938-92501938
8 PEX1 NM_000466.3(PEX1):c.2471del (p.Ala824fs)deletion Pathogenic 665163 7:92130933-92130933 7:92501619-92501619
9 PEX1 NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)SNV Pathogenic 639480 7:92146666-92146666 7:92517352-92517352
10 PEX1 NM_000466.3(PEX1):c.1108dup (p.Ile370fs)duplication Pathogenic 644707 rs61750406 7:92146720-92146721 7:92517406-92517407
11 PEX1 NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)SNV Pathogenic 810635 7:92147524-92147524 7:92518210-92518210
12 PEX1 NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)deletion Pathogenic 813403 7:92132492-92132496 7:92503178-92503182
13 PEX1 NM_000466.3(PEX1):c.130-1G>TSNV Pathogenic 813453 7:92151560-92151560 7:92522246-92522246
14 PEX1 NM_000466.3(PEX1):c.1727dup (p.Arg577fs)duplication Pathogenic 830063 7:92136383-92136384 7:92507069-92507070
15 PEX1 NM_000466.3(PEX1):c.1483+1G>ASNV Pathogenic 830062 7:92140893-92140893 7:92511579-92511579
16 PEX1 NM_000466.3(PEX1):c.1126del (p.Glu376fs)deletion Pathogenic 813450 7:92146703-92146703 7:92517389-92517389
17 PEX1 NC_000007.14:g.(?_92509319)_(92509421_?)deldeletion Pathogenic 830618 7:92138633-92138735
18 PEX1 NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)SNV Pathogenic 844762 7:92135645-92135645 7:92506331-92506331
19 PEX1 NM_000466.3(PEX1):c.3066_3067CT[2] (p.Leu1024fs)short repeat Pathogenic 861041 7:92122403-92122404 7:92493089-92493090
20 PEX1 NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)deletion Pathogenic 7518 rs1554372074
21 PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs)duplication Pathogenic 7519 rs61750415 7:92132483-92132484 7:92503169-92503170
22 PEX1 PEX1, 1-BP DEL, 2916Adeletion Pathogenic 7520
23 PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562
24 PEX1 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)duplication Pathogenic 203390 rs794729652 7:92120644-92120645 7:92491330-92491331
25 PEX1 NM_000466.3(PEX1):c.1239+1G>TSNV Pathogenic 217430 rs756876301 7:92146589-92146589 7:92517275-92517275
26 PEX1 NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)SNV Pathogenic 265395 rs61750422 7:92129122-92129122 7:92499808-92499808
27 PEX1 NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)SNV Pathogenic 371698 rs1057517467 7:92119090-92119090 7:92489776-92489776
28 PEX1 NM_000466.3(PEX1):c.2922del (p.Leu974fs)deletion Pathogenic 371696 rs762324548 7:92123805-92123805 7:92494491-92494491
29 PEX1 NM_000466.3(PEX1):c.2T>C (p.Met1Thr)SNV Pathogenic 371746 rs766020928 7:92157748-92157748 7:92528434-92528434
30 PEX1 NM_000466.3(PEX1):c.1A>T (p.Met1Leu)SNV Pathogenic 371744 rs1057517501 7:92157749-92157749 7:92528435-92528435
31 PEX1 NM_000466.3(PEX1):c.2T>G (p.Met1Arg)SNV Pathogenic/Likely pathogenic 371688 rs766020928 7:92157748-92157748 7:92528434-92528434
32 PEX1 NM_000466.3(PEX1):c.358-1G>TSNV Pathogenic/Likely pathogenic 371714 rs1057517479 7:92147570-92147570 7:92518256-92518256
33 PEX1 NM_000466.3(PEX1):c.2032_2033CA[1] (p.His678fs)short repeat Pathogenic/Likely pathogenic 371692 rs61750412 7:92134082-92134083 7:92504768-92504769
34 PEX1 NM_000466.3(PEX1):c.3208-1G>ASNV Pathogenic/Likely pathogenic 371765 rs1057517518 7:92120817-92120817 7:92491503-92491503
35 PEX1 NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)SNV Pathogenic/Likely pathogenic 371782 rs149806989 7:92147282-92147282 7:92517968-92517968
36 PEX1 NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)SNV Pathogenic/Likely pathogenic 371716 rs1057517481 7:92123852-92123852 7:92494538-92494538
37 PEX1 NM_000466.3(PEX1):c.1908del (p.Arg636fs)deletion Pathogenic/Likely pathogenic 371713 rs1057517478 7:92134209-92134209 7:92504895-92504895
38 PEX1 NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)duplication Pathogenic/Likely pathogenic 287046 rs886043558 7:92120719-92120720 7:92491405-92491406
39 PEX1 NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs)short repeat Pathogenic/Likely pathogenic 188981 rs769836601 7:92118678-92118681 7:92489364-92489367
40 PEX1 NM_000466.3(PEX1):c.2926+1G>ASNV Pathogenic/Likely pathogenic 188729 rs267608179 7:92123800-92123800 7:92494486-92494486
41 PEX1 NM_000466.3(PEX1):c.2916del (p.Gly973fs)deletion Pathogenic/Likely pathogenic 189043 rs61750426 7:92123811-92123811 7:92494497-92494497
42 PEX1 NM_000466.3(PEX1):c.2730del (p.Leu910fs)deletion Pathogenic/Likely pathogenic 188971 rs61750423 7:92126080-92126080 7:92496766-92496766
43 PEX1 NM_000466.3(PEX1):c.2387_2388TC[2] (p.Arg798fs)short repeat Pathogenic/Likely pathogenic 188851 rs61750414 7:92131228-92131229 7:92501914-92501915
44 PEX1 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)SNV Pathogenic/Likely pathogenic 188873 rs61750418 7:92131237-92131237 7:92501923-92501923
45 PEX1 NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs)short repeat Pathogenic/Likely pathogenic 188984 rs786204606 7:92136394-92136395 7:92507080-92507081
46 PEX1 NM_000466.3(PEX1):c.782_783del (p.Gln261fs)deletion Pathogenic/Likely pathogenic 188910 rs749067142 7:92147046-92147047 7:92517732-92517733
47 PEX1 NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp)duplication Pathogenic/Likely pathogenic 93102 rs398123408 7:92134156-92134157 7:92504842-92504843
48 PEX1 NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)SNV Pathogenic/Likely pathogenic 93104 rs398123409 7:92131390-92131390 7:92502076-92502076
49 PEX1 NM_000466.3(PEX1):c.1A>C (p.Met1Leu)SNV Pathogenic/Likely pathogenic 552166 rs1057517501 7:92157749-92157749 7:92528435-92528435
50 PEX1 NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)SNV Pathogenic/Likely pathogenic 558040 rs762679408 7:92157745-92157745 7:92528431-92528431

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

73
# 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 9.63 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 9.91 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 very long-chain fatty acid metabolic process GO:0000038 9.51 PEX5 PEX2
7 protein import into peroxisome matrix, docking GO:0016560 9.5 PEX5 PEX14 PEX13
8 cerebral cortex cell migration GO:0021795 9.48 PEX5 PEX13
9 peroxisome membrane biogenesis GO:0016557 9.46 PEX3 PEX16
10 microtubule-based peroxisome localization GO:0060152 9.4 PEX13 PEX1
11 protein import into peroxisome matrix, translocation GO:0016561 9.37 PEX6 PEX14
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 ATPase activity, coupled GO:0042623 9.26 PEX6 PEX1
3 protein C-terminus binding GO:0008022 9.02 PEX6 PEX26 PEX16 PEX12 PEX1
4 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
28 GO
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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