MCID: PRX063
MIFTS: 29

Peroxisome Biogenesis Disorder 2a

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 2a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 2a:

Name: Peroxisome Biogenesis Disorder 2a 57 75 29 13 6 73
Pbd2a 57 75
Peroxisome Biogenesis Disorder Complementation Group E 75
Peroxisome Biogenesis Disorder Complementation Group 2 75
Peroxisome Biogenesis Disorder, Type 2a 40
Pbd-Cge 75
Pbd-Cg2 75
Cg1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive, several forms


HPO:

32
peroxisome biogenesis disorder 2a:
Mortality/Aging death in childhood


Classifications:



Summaries for Peroxisome Biogenesis Disorder 2a

UniProtKB/Swiss-Prot : 75 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 1b and peroxisome biogenesis disorder 1a. An important gene associated with Peroxisome Biogenesis Disorder 2a is PEX5 (Peroxisomal Biogenesis Factor 5). Affiliated tissues include liver, eye and kidney, and related phenotypes are hypertelorism and intellectual disability

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)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 2a

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism
pigmentary retinopathy
brushfield spots
optic nerve dysplasia
epicanthic folds
more
Growth:
failure to thrive
poor suck
early death
prenatal growth failure

Mouth:
cleft palate
mandible:micrognathia

Limbs:
metatarsus adductus
cubitus valgus
talipes equinovarus
camptodactyly
transverse palmar crease

Head:
high forehead
large fontanels
dolichoturricephaly

Thorax:
thymus hypoplasia

Ears:
low set
helix abnormal

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

Neuro:
seizures
areflexia
hypotonia
mental retardation
absent moro response

Liver:
hepatomegaly
jaundice
mitochondrial abnormalities
intrahepatic biliary dysgenesis

GU:
cryptorchidism
clitoromegaly
polycystic kidneys

Resp:
apnea

Cardiac:
congenital heart defect

Facies:
flat
round

Skel:
stippled chondral calcification


Clinical features from OMIM:

214110

Human phenotypes related to Peroxisome Biogenesis Disorder 2a:

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

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:

41
Liver, Eye, Kidney, Heart, Thymus

Publications for Peroxisome Biogenesis Disorder 2a

Variations for Peroxisome Biogenesis Disorder 2a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 2a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX5 NM_001131025.1(PEX5): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs61752137 GRCh37 Chromosome 12, 7361150: 7361150
2 PEX5 NM_001131025.1(PEX5): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs61752137 GRCh38 Chromosome 12, 7208554: 7208554
3 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 12, 7351605: 7351605
4 PEX5 NM_000319.4(PEX5): c.449-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 12, 7199009: 7199009

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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