MCID: PRX059
MIFTS: 40

Peroxisome Biogenesis Disorder 1a

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 1a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 1a:

Name: Peroxisome Biogenesis Disorder 1a 57 75 13
Cerebrohepatorenal Syndrome 57 75
Zellweger Syndrome 75 73
Pbd1a 57 75
Zws 57 75
Chr 57 76
Zs 57 75
Peroxisome Biogenesis Disorder, Complementation Group 1 29
Peroxisome Biogenesis Disorder Complementation Group 1 75
Peroxisome Biogenesis Disorder Complementation Group E 75
Peroxisome Biogenesis Disorder, Type 1a 40
Cerebrohepatorenal Syndrome; Chr 57
Cerebro-Hepato-Renal Syndrome 75
Zellweger's Syndrome 75
Chr Syndrome 75
Zs; Zws 57
Pbd-Cge 75
Pbd-Cg1 75
Cg1 75

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 heterogeneous autosomal recessive inheritance


Classifications:



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 peroxisome biogenesis disorder 1b and zellweger syndrome, 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. Affiliated tissues include liver, skin and bone, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 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 all 21)
# Related Disease Score Top Affiliating Genes
1 peroxisome biogenesis disorder 1b 30.4 PEX1 PEX10
2 zellweger syndrome 30.4 PEX1 PEX10
3 mental retardation, skeletal dysplasia, and abducens palsy 11.0
4 peroxisome biogenesis disorder 2a 11.0
5 peroxisome biogenesis disorder 3a 11.0
6 peroxisome biogenesis disorder 4a 11.0
7 peroxisome biogenesis disorder 5a 11.0
8 peroxisome biogenesis disorder 6a 11.0
9 peroxisome biogenesis disorder 7a 11.0
10 peroxisome biogenesis disorder 8a 11.0
11 peroxisome biogenesis disorder 9b 11.0
12 peroxisome biogenesis disorder 10a 11.0
13 peroxisome biogenesis disorder 11a 11.0
14 peroxisome biogenesis disorder 12a 11.0
15 peroxisome biogenesis disorder 13a 11.0
16 heimler syndrome 1 10.9
17 heimler syndrome 2 10.9
18 zellweger spectrum disorder 9.5 PEX1 PEX10
19 peroxisomal biogenesis disorders 9.5 PEX1 PEX10
20 neonatal adrenoleukodystrophy 9.4 PEX1 PEX10
21 adrenoleukodystrophy 9.2 PEX1 PEX10

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

Symptoms via clinical synopsis from OMIM:

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

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

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

Skeletal Limbs:
metatarsus adductus
cubitus valgus

Head And Neck Mouth:
protruding tongue
high arched palate

Genitourinary Kidneys:
hydronephrosis
renal cortical microcysts
absent renal peroxisomes

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
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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Skeletal Feet:
talipes equinovarus
rocker-bottom feet

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

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 opacification of the corneal stroma 32 HP:0007759
20 patent ductus arteriosus 32 HP:0001643
21 epicanthus 32 HP:0000286
22 abnormal electroretinogram 32 HP:0000512
23 cryptorchidism 32 HP:0000028
24 metatarsus adductus 32 HP:0001840
25 epiphyseal stippling 32 HP:0010655
26 flat face 32 HP:0012368
27 cubitus valgus 32 HP:0002967
28 high, narrow palate 32 HP:0002705
29 intellectual disability, progressive 32 HP:0006887
30 hypospadias 32 HP:0000047
31 glaucoma 32 HP:0000501
32 upslanted palpebral fissure 32 HP:0000582
33 protruding tongue 32 HP:0010808
34 round face 32 HP:0000311
35 ventricular septal defect 32 HP:0001629
36 talipes equinovarus 32 HP:0001762
37 areflexia 32 HP:0001284
38 flat occiput 32 HP:0005469
39 high forehead 32 HP:0000348
40 hyporeflexia 32 HP:0001265
41 hydronephrosis 32 HP:0000126
42 polymicrogyria 32 HP:0002126
43 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
44 prolonged neonatal jaundice 32 HP:0006579
45 brachyturricephaly 32 HP:0000244
46 single transverse palmar crease 32 HP:0000954
47 adrenal hypoplasia 32 HP:0000835
48 rocker bottom foot 32 HP:0001838
49 pulmonary hypoplasia 32 HP:0002089
50 heterotopia 32 HP:0002282

UMLS symptoms related to Peroxisome Biogenesis Disorder 1a:


seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 1a

Search Clinical Trials , 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 29

Anatomical Context for Peroxisome Biogenesis Disorder 1a

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

41
Liver, Skin, Bone, Tongue, Adrenal Gland

Publications for Peroxisome Biogenesis Disorder 1a

Articles related to Peroxisome Biogenesis Disorder 1a:

# Title Authors Year
1
Intestinal lymphangiectasia in a patient with Zellweger cerebrohepatorenal syndrome. ( 8533807 )
1995
2
Multiple peroxisomal enzymatic deficiency disorders. A comparative biochemical and morphologic study of Zellweger cerebrohepatorenal syndrome and neonatal adrenoleukodystrophy. ( 2879480 )
1986
3
Adrenoleukodystrophy, cerebrohepatorenal syndrome (Zellweger syndrome), and peroxisomes. ( 4095031 )
1985
4
[Diagnosis of Zellweger's cerebrohepatorenal syndrome]. ( 6528320 )
1984
5
[A child with Zellweger's cerebrohepatorenal syndrome]. ( 6879587 )
1983
6
Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger's syndrome) and its relationship to neonatal adrenoleukodystrophy. ( 6624831 )
1983
7
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. ( 4470905 )
1974

Variations for Peroxisome Biogenesis Disorder 1a

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

75
# Symbol AA change Variation ID SNP ID
1 PEX1 p.Leu664Pro VAR_008876 rs121434455
2 PEX1 p.Gly843Asp VAR_008877 rs61750420
3 PEX1 p.Leu590Arg VAR_058376
4 PEX1 p.Gly593Arg VAR_058377 rs61750407
5 PEX1 p.Arg798Gly VAR_058378 rs61750419
6 PEX1 p.Ala1237Glu VAR_058380

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 1a:

6
(show top 50) (show all 1255)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
2 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh38 Chromosome 7, 92501562: 92501562
3 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh37 Chromosome 7, 92134126: 92134126
4 PEX1 NM_000466.2(PEX1): c.1991T> C (p.Leu664Pro) single nucleotide variant Likely pathogenic rs121434455 GRCh38 Chromosome 7, 92504812: 92504812
5 PEX1 NM_000466.2(PEX1): c.1906_2064del159 (p.Arg636_Leu688del) deletion Pathogenic
6 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh37 Chromosome 7, 92132484: 92132484
7 PEX1 NM_000466.2(PEX1): c.2097dupT (p.Ile700Tyrfs) duplication Pathogenic rs61750415 GRCh38 Chromosome 7, 92503170: 92503170
8 PEX1 PEX1, 1-BP DEL, 2916A deletion Pathogenic
9 PEX6 NM_000287.3(PEX6): c.2426C> T (p.Ala809Val) single nucleotide variant Benign/Likely benign rs35830695 GRCh37 Chromosome 6, 42933464: 42933464
10 PEX6 NM_000287.3(PEX6): c.2426C> T (p.Ala809Val) single nucleotide variant Benign/Likely benign rs35830695 GRCh38 Chromosome 6, 42965726: 42965726
11 PEX1 NM_000466.2(PEX1): c.627G> A (p.Met209Ile) single nucleotide variant Uncertain significance rs200752969 GRCh37 Chromosome 7, 92147202: 92147202
12 PEX1 NM_000466.2(PEX1): c.627G> A (p.Met209Ile) single nucleotide variant Uncertain significance rs200752969 GRCh38 Chromosome 7, 92517888: 92517888
13 PEX14 NM_004565.2(PEX14): c.1014C> T (p.Asp338=) single nucleotide variant Benign/Likely benign rs2128414 GRCh37 Chromosome 1, 10689924: 10689924
14 PEX14 NM_004565.2(PEX14): c.1014C> T (p.Asp338=) single nucleotide variant Benign/Likely benign rs2128414 GRCh38 Chromosome 1, 10629867: 10629867
15 PEX14 NM_004565.2(PEX14): c.1032G> T (p.Gly344=) single nucleotide variant Benign/Likely benign rs11539794 GRCh37 Chromosome 1, 10689942: 10689942
16 PEX14 NM_004565.2(PEX14): c.1032G> T (p.Gly344=) single nucleotide variant Benign/Likely benign rs11539794 GRCh38 Chromosome 1, 10629885: 10629885
17 PEX26 NM_017929.5(PEX26): c.*10C> T single nucleotide variant Benign/Likely benign rs117472525 GRCh37 Chromosome 22, 18570851: 18570851
18 PEX26 NM_017929.5(PEX26): c.*10C> T single nucleotide variant Benign/Likely benign rs117472525 GRCh38 Chromosome 22, 18088085: 18088085
19 PEX1 NM_000466.2(PEX1): c.2926+2T> C single nucleotide variant Likely pathogenic rs267608180 GRCh38 Chromosome 7, 92494485: 92494485
20 PEX1 NM_000466.2(PEX1): c.2926+2T> C single nucleotide variant Likely pathogenic rs267608180 GRCh37 Chromosome 7, 92123799: 92123799
21 PEX1 NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs) deletion Likely pathogenic rs769836601 GRCh37 Chromosome 7, 92118678: 92118681
22 PEX1 NM_000466.2(PEX1): c.3693_3696delGTCA (p.Gln1231Hisfs) deletion Likely pathogenic rs769836601 GRCh38 Chromosome 7, 92489364: 92489367
23 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh37 Chromosome 7, 92123800: 92123800
24 PEX1 NM_000466.2(PEX1): c.2926+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267608179 GRCh38 Chromosome 7, 92494486: 92494486
25 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh37 Chromosome 7, 92123811: 92123811
26 PEX1 NM_000466.2(PEX1): c.2916delA (p.Gly973Alafs) deletion Pathogenic/Likely pathogenic rs61750426 GRCh38 Chromosome 7, 92494497: 92494497
27 PEX1 NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs) deletion Likely pathogenic rs61750423 GRCh37 Chromosome 7, 92126080: 92126080
28 PEX1 NM_000466.2(PEX1): c.2730delA (p.Leu910Phefs) deletion Likely pathogenic rs61750423 GRCh38 Chromosome 7, 92496766: 92496766
29 PEX1 NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs) deletion Likely pathogenic rs61750414 GRCh37 Chromosome 7, 92131228: 92131229
30 PEX1 NM_000466.2(PEX1): c.2391_2392delTC (p.Arg798Serfs) deletion Likely pathogenic rs61750414 GRCh38 Chromosome 7, 92501914: 92501915
31 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh37 Chromosome 7, 92131237: 92131237
32 PEX1 NM_000466.2(PEX1): c.2383C> T (p.Arg795Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750418 GRCh38 Chromosome 7, 92501923: 92501923
33 PEX1 NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs) deletion Likely pathogenic rs786204606 GRCh38 Chromosome 7, 92507080: 92507081
34 PEX1 NM_000466.2(PEX1): c.1716_1717delCA (p.His572Glnfs) deletion Likely pathogenic rs786204606 GRCh37 Chromosome 7, 92136394: 92136395
35 PEX1 NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs) deletion Likely pathogenic rs786204743 GRCh37 Chromosome 7, 92140343: 92140344
36 PEX1 NM_000466.2(PEX1): c.1501_1502delCT (p.Leu501Glufs) deletion Likely pathogenic rs786204743 GRCh38 Chromosome 7, 92511029: 92511030
37 PEX1 NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs) deletion Likely pathogenic rs786204638 GRCh37 Chromosome 7, 92146917: 92146918
38 PEX1 NM_000466.2(PEX1): c.911_912delCT (p.Ser304Cysfs) deletion Likely pathogenic rs786204638 GRCh38 Chromosome 7, 92517603: 92517604
39 PEX1 NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs) deletion Likely pathogenic rs749067142 GRCh37 Chromosome 7, 92147046: 92147047
40 PEX1 NM_000466.2(PEX1): c.782_783delAA (p.Gln261Argfs) deletion Likely pathogenic rs749067142 GRCh38 Chromosome 7, 92517732: 92517733
41 PEX1 NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs) deletion Likely pathogenic rs786204544 GRCh37 Chromosome 7, 92147182: 92147186
42 PEX1 NM_000466.2(PEX1): c.643_647delACCAA (p.Thr215Alafs) deletion Likely pathogenic rs786204544 GRCh38 Chromosome 7, 92517868: 92517872
43 PEX1 NM_000466.2(PEX1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204704 GRCh37 Chromosome 7, 92157747: 92157747
44 PEX1 NM_000466.2(PEX1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs786204704 GRCh38 Chromosome 7, 92528433: 92528433
45 PEX6 NM_000287.3(PEX6): c.870G> C (p.Glu290Asp) single nucleotide variant Uncertain significance rs150358700 GRCh37 Chromosome 6, 42946019: 42946019
46 PEX6 NM_000287.3(PEX6): c.870G> C (p.Glu290Asp) single nucleotide variant Uncertain significance rs150358700 GRCh38 Chromosome 6, 42978281: 42978281
47 PEX13 NM_002618.3(PEX13): c.-6G> C single nucleotide variant Conflicting interpretations of pathogenicity rs147461642 GRCh37 Chromosome 2, 61244889: 61244889
48 PEX13 NM_002618.3(PEX13): c.-6G> C single nucleotide variant Conflicting interpretations of pathogenicity rs147461642 GRCh38 Chromosome 2, 61017754: 61017754
49 PEX6 NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu) single nucleotide variant Uncertain significance rs142899308 GRCh37 Chromosome 6, 42934097: 42934097
50 PEX6 NM_000287.3(PEX6): c.2183C> T (p.Pro728Leu) single nucleotide variant Uncertain significance rs142899308 GRCh38 Chromosome 6, 42966359: 42966359

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 peroxisome organization GO:0007031 8.96 PEX1 PEX10
2 protein import into peroxisome matrix GO:0016558 8.62 PEX1 PEX10

Sources for Peroxisome Biogenesis Disorder 1a

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7 CNVD
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11 DGIdb
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