PBD2A
MCID: PRX063
MIFTS: 36

Peroxisome Biogenesis Disorder 2a (PBD2A)

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 2a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 2a:

Name: Peroxisome Biogenesis Disorder 2a 57 12 72 29 13 6 15 70
Pbd2a 57 72
Peroxisome Biogenesis Disorder Complementation Group E 72
Peroxisome Biogenesis Disorder Complementation Group 2 72
Peroxisome Biogenesis Disorder, Type 2a 39
Pbd-Cge 72
Pbd-Cg2 72
Cg1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive, several forms


HPO:

31
peroxisome biogenesis disorder 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Peroxisome Biogenesis Disorder 2a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 2A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and 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 2: 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 2a, also known as pbd2a, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 1b. An important gene associated with Peroxisome Biogenesis Disorder 2a is PEX5 (Peroxisomal Biogenesis Factor 5). Affiliated tissues include eye, thymus and heart, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous mutation in the PEX5 gene on chromosome 12p13.

OMIM® : 57 The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100. (214110) (Updated 05-Apr-2021)

Related Diseases for Peroxisome Biogenesis Disorder 2a

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 2a:



Diseases related to Peroxisome Biogenesis Disorder 2a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 2a

Human phenotypes related to Peroxisome Biogenesis Disorder 2a:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 cataract 31 HP:0000518
4 hepatomegaly 31 HP:0002240
5 hypertelorism 31 HP:0000316
6 abnormality of the helix 31 HP:0011039
7 aminoaciduria 31 HP:0003355
8 opacification of the corneal stroma 31 HP:0007759
9 cleft palate 31 HP:0000175
10 metatarsus adductus 31 HP:0001840
11 cryptorchidism 31 HP:0000028
12 intrauterine growth retardation 31 HP:0001511
13 cubitus valgus 31 HP:0002967
14 micrognathia 31 HP:0000347
15 epicanthus 31 HP:0000286
16 jaundice 31 HP:0000952
17 palpebral edema 31 HP:0100540
18 talipes equinovarus 31 HP:0001762
19 dolichocephaly 31 HP:0000268
20 upslanted palpebral fissure 31 HP:0000582
21 areflexia 31 HP:0001284
22 apnea 31 HP:0002104
23 polycystic kidney dysplasia 31 HP:0000113
24 hypoplasia of the thymus 31 HP:0000778
25 turricephaly 31 HP:0000262
26 high forehead 31 HP:0000348
27 large fontanelles 31 HP:0000239
28 brushfield spots 31 HP:0001088
29 single transverse palmar crease 31 HP:0000954
30 abnormality of cardiovascular system morphology 31 HP:0030680
31 abnormal heart morphology 31 HP:0001627
32 poor suck 31 HP:0002033
33 pigmentary retinopathy 31 HP:0000580
34 generalized hypotonia 31 HP:0001290
35 camptodactyly 31 HP:0012385
36 optic nerve dysplasia 31 HP:0001093
37 clitoral hypertrophy 31 HP:0008665
38 joint contracture of the hand 31 HP:0009473
39 abnormality of the mitochondrion 31 HP:0012103
40 elevated circulating long chain fatty acid concentration 31 HP:0003455
41 seizure 31 HP:0001250
42 hypotonia 31 HP:0001252
43 intrahepatic biliary dysgenesis 31 HP:0001401
44 stippled chondral calcification 31 HP:0002764

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
seizures
areflexia
hypotonia
mental retardation
absent moro response

Liver:
hepatomegaly
jaundice
intrahepatic biliary dysgenesis
mitochondrial abnormalities

Mouth:
cleft palate
mandible:micrognathia

G U:
cryptorchidism
clitoromegaly
polycystic kidneys

Head:
high forehead
large fontanels
dolichoturricephaly

Cardiac:
congenital heart defect

Facies:
flat
round

Lab:
elevated long chain fatty acids in plasma, fibroblasts and amniocytes
serum iron and iron binding capacity high
peroxisomes abnormal
pipecolic aciduria
serum pipecolic acid elevated

Growth:
failure to thrive
poor suck
early death
prenatal growth failure

Eyes:
hypertelorism
brushfield spots
pigmentary retinopathy
optic nerve dysplasia
epicanthic folds
more
Limbs:
metatarsus adductus
cubitus valgus
talipes equinovarus
camptodactyly
transverse palmar crease

Resp:
apnea

Skel:
stippled chondral calcification

Thorax:
thymus hypoplasia

Ears:
low set
helix abnormal

Clinical features from OMIM®:

214110 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Peroxisome Biogenesis Disorder 2a according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.1 PCDHB4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.1 PCDHB4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 9.1 GPSM1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 9.1 GPSM1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 9.1 GPSM1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.1 PCDHB4

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 2a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 2a

Genetic Tests for Peroxisome Biogenesis Disorder 2a

Genetic tests related to Peroxisome Biogenesis Disorder 2a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 2a (zellweger) 29 PEX5

Anatomical Context for Peroxisome Biogenesis Disorder 2a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 2a:

40
Eye, Thymus, Heart, Kidney

Publications for Peroxisome Biogenesis Disorder 2a

Articles related to Peroxisome Biogenesis Disorder 2a:

# Title Authors PMID Year
1
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 6 57
7719337 1995
2
Peroxisome biogenesis disorders. 57
17055079 2006
3
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 57
2454948 1988
4
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease. 57
1204235 1975
5
The gene for the peroxisomal targeting signal import receptor (PXR1) is located on human chromosome 12p13, flanked by TPI1 and D12S1089. 61
8586442 1995

Variations for Peroxisome Biogenesis Disorder 2a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 2a:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX5 NM_001131025.1(PEX5):c.1279C>T (p.Arg427Ter) SNV Pathogenic 9144 rs61752137 GRCh37: 12:7361150-7361150
GRCh38: 12:7208554-7208554
2 PEX5 NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) SNV Pathogenic 9143 rs61752138 GRCh37: 12:7362296-7362296
GRCh38: 12:7209700-7209700
3 PEX5 NM_001351132.2(PEX5):c.1702_1705dup (p.Leu569fs) Duplication Pathogenic 1033725 GRCh37: 12:7362418-7362419
GRCh38: 12:7209822-7209823
4 PEX5 NM_001300789.1(PEX5):c.59T>C (p.Val20Ala) SNV Uncertain significance 595094 rs371185376 GRCh37: 12:7342969-7342969
GRCh38: 12:7190373-7190373
5 PEX5 NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) SNV Uncertain significance 1014978 GRCh37: 12:7360340-7360340
GRCh38: 12:7207744-7207744
6 PEX5 NM_001131025.1(PEX5):c.-145G>A SNV Uncertain significance 310416 rs542096066 GRCh37: 12:7342684-7342684
GRCh38: 12:7190088-7190088
7 PEX5 NM_001131025.2(PEX5):c.533G>A SNV Uncertain significance 310418 rs749729761 GRCh37: 12:7351691-7351691
GRCh38: 12:7199095-7199095
8 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) SNV Uncertain significance 194614 rs146567534 GRCh37: 12:7362713-7362713
GRCh38: 12:7210117-7210117
9 PEX5 NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu) SNV Uncertain significance 449585 rs751043763 GRCh37: 12:7351654-7351654
GRCh38: 12:7199058-7199058
10 PEX5 NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) SNV Uncertain significance 728603 rs370306007 GRCh37: 12:7362699-7362699
GRCh38: 12:7210103-7210103
11 PEX5 NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly) SNV Uncertain significance 289833 rs143307183 GRCh37: 12:7344219-7344219
GRCh38: 12:7191623-7191623
12 PEX5 NM_001131025.1(PEX5):c.1521C>T (p.Ala507=) SNV Uncertain significance 310425 rs150761638 GRCh37: 12:7361727-7361727
GRCh38: 12:7209131-7209131
13 PEX5 NM_001131025.1(PEX5):c.552-7G>A SNV Uncertain significance 310420 rs189631769 GRCh37: 12:7354340-7354340
GRCh38: 12:7201744-7201744
14 PEX5 NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) SNV Uncertain significance 194614 rs146567534 GRCh37: 12:7362713-7362713
GRCh38: 12:7210117-7210117
15 PEX5 NM_001131025.1(PEX5):c.966+3G>A SNV Uncertain significance 235440 rs373763823 GRCh37: 12:7356150-7356150
GRCh38: 12:7203554-7203554
16 PEX5 NM_001131025.1(PEX5):c.754-4G>A SNV Uncertain significance 310422 rs111286659 GRCh37: 12:7355204-7355204
GRCh38: 12:7202608-7202608
17 PEX5 NM_001131025.1(PEX5):c.1413G>C (p.Val471=) SNV Uncertain significance 194355 rs115760878 GRCh37: 12:7361619-7361619
GRCh38: 12:7209023-7209023
18 PEX5 NM_001131025.1(PEX5):c.1707C>T (p.Leu569=) SNV Uncertain significance 287034 rs151312595 GRCh37: 12:7362425-7362425
GRCh38: 12:7209829-7209829
19 PEX5 NM_001131025.2(PEX5):c.533G>A SNV Uncertain significance 310418 rs749729761 GRCh37: 12:7351691-7351691
GRCh38: 12:7199095-7199095
20 PEX5 NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) SNV Uncertain significance 973487 GRCh37: 12:7361223-7361223
GRCh38: 12:7208627-7208627
21 PEX5 NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile) SNV Uncertain significance 310435 rs145886418 GRCh37: 12:7362801-7362801
GRCh38: 12:7210205-7210205
22 PEX5 NM_001131025.1(PEX5):c.590C>T (p.Thr197Met) SNV Uncertain significance 283813 rs144897942 GRCh37: 12:7354385-7354385
GRCh38: 12:7201789-7201789
23 PEX5 NM_001131025.2(PEX5):c.230G>A SNV Uncertain significance 498328 rs780957318 GRCh37: 12:7343868-7343868
GRCh38: 12:7191272-7191272
24 PEX5 NM_001131025.1(PEX5):c.1873G>A (p.Ala625Thr) SNV Uncertain significance 310433 rs143600154 GRCh37: 12:7362772-7362772
GRCh38: 12:7210176-7210176
25 PEX5 NM_001131025.1(PEX5):c.1522G>A (p.Val508Met) SNV Uncertain significance 310426 rs138028549 GRCh37: 12:7361728-7361728
GRCh38: 12:7209132-7209132
26 PEX5 NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) SNV Uncertain significance 883208 GRCh37: 12:7360321-7360321
GRCh38: 12:7207725-7207725
27 PEX5 NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys) SNV Uncertain significance 565733 rs759334733 GRCh37: 12:7362354-7362354
GRCh38: 12:7209758-7209758
28 PEX5 NM_001300789.1(PEX5):c.515C>G (p.Pro172Arg) SNV Uncertain significance 597182 rs200720523 GRCh37: 12:7351610-7351610
GRCh38: 12:7199014-7199014
29 PEX5 NM_001131023.1(PEX5):c.649G>C (p.Val217Leu) SNV Uncertain significance 289541 rs149102738 GRCh37: 12:7354399-7354399
GRCh38: 12:7201803-7201803
30 PEX5 NM_001131025.1(PEX5):c.1737T>C (p.Phe579=) SNV Uncertain significance 310431 rs753159772 GRCh37: 12:7362636-7362636
GRCh38: 12:7210040-7210040
31 PEX5 NM_001131025.1(PEX5):c.*495G>A SNV Uncertain significance 310447 rs776371289 GRCh37: 12:7363314-7363314
GRCh38: 12:7210718-7210718
32 PEX5 NM_001131025.1(PEX5):c.909T>C (p.Ala303=) SNV Uncertain significance 310423 rs376649488 GRCh37: 12:7356090-7356090
GRCh38: 12:7203494-7203494
33 PEX5 NM_001131025.1(PEX5):c.*1C>T SNV Uncertain significance 310436 rs886049827 GRCh37: 12:7362820-7362820
GRCh38: 12:7210224-7210224
34 PEX5 NM_001131025.1(PEX5):c.*132C>G SNV Uncertain significance 310439 rs753013794 GRCh37: 12:7362951-7362951
GRCh38: 12:7210355-7210355
35 PEX5 NM_001131025.1(PEX5):c.-521C>G SNV Uncertain significance 310403 rs886049822 GRCh37: 12:7342308-7342308
GRCh38: 12:7189712-7189712
36 PEX5 NM_001131025.1(PEX5):c.643-5C>T SNV Uncertain significance 310421 rs886049826 GRCh37: 12:7354832-7354832
GRCh38: 12:7202236-7202236
37 PEX5 NM_001131025.1(PEX5):c.*677G>T SNV Uncertain significance 310450 rs886049830 GRCh37: 12:7363496-7363496
GRCh38: 12:7210900-7210900
38 PEX5 NM_001131025.1(PEX5):c.-298T>C SNV Uncertain significance 310411 rs779168691 GRCh37: 12:7342531-7342531
GRCh38: 12:7189935-7189935
39 PEX5 NM_001131025.1(PEX5):c.*322C>T SNV Uncertain significance 310442 rs764082627 GRCh37: 12:7363141-7363141
GRCh38: 12:7210545-7210545
40 PEX5 NM_001131025.1(PEX5):c.*452G>C SNV Uncertain significance 310445 rs185474091 GRCh37: 12:7363271-7363271
GRCh38: 12:7210675-7210675
41 PEX5 NM_001131025.1(PEX5):c.*1139T>C SNV Uncertain significance 310462 rs886049836 GRCh37: 12:7363958-7363958
GRCh38: 12:7211362-7211362
42 PEX5 NM_001131025.1(PEX5):c.*627C>T SNV Uncertain significance 310448 rs146897980 GRCh37: 12:7363446-7363446
GRCh38: 12:7210850-7210850
43 PEX5 NM_001131025.1(PEX5):c.-443T>C SNV Uncertain significance 310409 rs796452917 GRCh37: 12:7342386-7342386
GRCh38: 12:7189790-7189790
44 PEX5 NM_001131025.1(PEX5):c.*722G>A SNV Uncertain significance 310451 rs886049831 GRCh37: 12:7363541-7363541
GRCh38: 12:7210945-7210945
45 PEX5 NM_001131025.1(PEX5):c.*891A>G SNV Uncertain significance 310454 rs371691416 GRCh37: 12:7363710-7363710
GRCh38: 12:7211114-7211114
46 PEX5 NM_001131025.1(PEX5):c.-535C>T SNV Uncertain significance 310402 rs886049821 GRCh37: 12:7342294-7342294
GRCh38: 12:7189698-7189698
47 PEX5 NM_001131025.1(PEX5):c.*1089T>C SNV Uncertain significance 310458 rs886049834 GRCh37: 12:7363908-7363908
GRCh38: 12:7211312-7211312
48 PEX5 NM_001131025.1(PEX5):c.1850G>C (p.Ser617Thr) SNV Uncertain significance 310432 rs751637149 GRCh37: 12:7362749-7362749
GRCh38: 12:7210153-7210153
49 PEX5 NM_001131025.1(PEX5):c.*81A>C SNV Uncertain significance 310438 rs183460108 GRCh37: 12:7362900-7362900
GRCh38: 12:7210304-7210304
50 PEX5 NM_001131025.1(PEX5):c.*1259G>C SNV Uncertain significance 310464 rs148385560 GRCh37: 12:7364078-7364078
GRCh38: 12:7211482-7211482

Expression for Peroxisome Biogenesis Disorder 2a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 2a.

Pathways for Peroxisome Biogenesis Disorder 2a

GO Terms for Peroxisome Biogenesis Disorder 2a

Sources for Peroxisome Biogenesis Disorder 2a

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
39 LOVD
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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