MCID: PRX060
MIFTS: 28

Peroxisome Biogenesis Disorder 5a

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 5a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 5a:

Name: Peroxisome Biogenesis Disorder 5a 57 75 29 13 6 73
Pbd5a 57 75
Peroxisome Biogenesis Disorder Complementation Group 10 75
Peroxisome Biogenesis Disorder Complementation Group 5 75
Peroxisome Biogenesis Disorder Complementation Group F 75
Peroxisome Biogenesis Disorder, Type 5a 40
Zellweger Syndrome 3 75
Pbd-Cg10 75
Pbd-Cgf 75
Pbd-Cg5 75
Zws3 75
Cg5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in infancy or early childhood


HPO:

32
peroxisome biogenesis disorder 5a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 5a

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 5A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized 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 5: 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 5a, also known as pbd5a, is related to peroxisome biogenesis disorder 5b, and has symptoms including icterus and seizures. An important gene associated with Peroxisome Biogenesis Disorder 5a is PEX2 (Peroxisomal Biogenesis Factor 2). Affiliated tissues include eye, liver and heart, and related phenotypes are cryptorchidism and cleft palate

OMIM : 57 The peroxisomal 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 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100. (614866)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 5a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
pigmentary retinopathy
brushfield spots
optic nerve dysplasia
epicanthic folds
more
Growth Other:
failure to thrive
prenatal growth failure

Abdomen Liver:
hepatomegaly
intrahepatic biliary dysgenesis

Head And Neck Face:
micrognathia
flat face
round face

Skeletal Feet:
metatarsus adductus
talipes equinovarus

Skin Nails Hair Skin:
jaundice

Genitourinary External Genitalia Female:
clitoromegaly

Skeletal Hands:
camptodactyly
transverse palmar crease

Skeletal:
chondrodysplasia punctata
stippled chondral calcification

Head And Neck Ears:
helix abnormal
low set ears

Laboratory Abnormalities:
accumulation of very-long-chain fatty acids in serum
absent peroxisomes in skin fibroblasts

Neurologic Central Nervous System:
seizures
areflexia
polymicrogyria
macrogyria
hypotonia
more
AbdomenSpleen:
splenomegaly

Head And Neck Mouth:
cleft palate

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Limbs:
cubitus valgus

Head And Neck Head:
high forehead
dolichoturricephaly

Abdomen Gastrointestinal:
poor suck

Cardiovascular Heart:
congenital heart defect

Skeletal Skull:
large fontanels

Genitourinary Kidneys:
multiple small renal cortical cysts


Clinical features from OMIM:

614866

Human phenotypes related to Peroxisome Biogenesis Disorder 5a:

32 (show all 43)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 cleft palate 32 HP:0000175
3 large fontanelles 32 HP:0000239
4 epicanthus 32 HP:0000286
5 round face 32 HP:0000311
6 hypertelorism 32 HP:0000316
7 micrognathia 32 HP:0000347
8 high forehead 32 HP:0000348
9 low-set ears 32 HP:0000369
10 cataract 32 HP:0000518
11 pigmentary retinopathy 32 HP:0000580
12 jaundice 32 HP:0000952
13 single transverse palmar crease 32 HP:0000954
14 brushfield spots 32 HP:0001088
15 optic nerve dysplasia 32 HP:0001093
16 intellectual disability 32 HP:0001249
17 seizures 32 HP:0001250
18 global developmental delay 32 HP:0001263
19 areflexia 32 HP:0001284
20 generalized hypotonia 32 HP:0001290
21 intrahepatic biliary dysgenesis 32 HP:0001401
22 hepatosplenomegaly 32 HP:0001433
23 failure to thrive 32 HP:0001508
24 intrauterine growth retardation 32 HP:0001511
25 abnormal heart morphology 32 HP:0001627
26 splenomegaly 32 HP:0001744
27 talipes equinovarus 32 HP:0001762
28 metatarsus adductus 32 HP:0001840
29 poor suck 32 HP:0002033
30 polymicrogyria 32 HP:0002126
31 hepatomegaly 32 HP:0002240
32 stippled chondral calcification 32 HP:0002764
33 cubitus valgus 32 HP:0002967
34 renal cortical microcysts 32 HP:0004734
35 macrogyria 32 HP:0007227
36 opacification of the corneal stroma 32 HP:0007759
37 clitoral hypertrophy 32 HP:0008665
38 generalized neonatal hypotonia 32 HP:0008935
39 epiphyseal stippling 32 HP:0010655
40 abnormality of the helix 32 HP:0011039
41 flat face 32 HP:0012368
42 camptodactyly 32 HP:0012385
43 palpebral edema 32 HP:0100540

UMLS symptoms related to Peroxisome Biogenesis Disorder 5a:


icterus, seizures

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 5a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 5a

Genetic Tests for Peroxisome Biogenesis Disorder 5a

Genetic tests related to Peroxisome Biogenesis Disorder 5a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 5a (zellweger) 29 PEX2

Anatomical Context for Peroxisome Biogenesis Disorder 5a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 5a:

41
Eye, Liver, Heart, Skin

Publications for Peroxisome Biogenesis Disorder 5a

Variations for Peroxisome Biogenesis Disorder 5a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 5a:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX2 NM_000318.2(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 GRCh37 Chromosome 8, 77896060: 77896060
2 PEX2 NM_000318.2(PEX2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs61752123 GRCh38 Chromosome 8, 76983824: 76983824
3 PEX2 NM_001079867.1(PEX2): c.279_283delGAGAT (p.Arg94Serfs) deletion Pathogenic rs61752122 GRCh37 Chromosome 8, 77896132: 77896136
4 PEX2 NM_001079867.1(PEX2): c.279_283delGAGAT (p.Arg94Serfs) deletion Pathogenic rs61752122 GRCh38 Chromosome 8, 76983896: 76983900
5 PEX2 NM_001079867.1(PEX2): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs61752128 GRCh37 Chromosome 8, 77895676: 77895676
6 PEX2 NM_001079867.1(PEX2): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs61752128 GRCh38 Chromosome 8, 76983440: 76983440
7 PEX2 NM_000318.2(PEX2): c.733G> A (p.Ala245Thr) single nucleotide variant Benign/Likely benign rs112108739 GRCh37 Chromosome 8, 77895682: 77895682
8 PEX2 NM_000318.2(PEX2): c.733G> A (p.Ala245Thr) single nucleotide variant Benign/Likely benign rs112108739 GRCh38 Chromosome 8, 76983446: 76983446
9 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh37 Chromosome 8, 77896070: 77896076
10 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh38 Chromosome 8, 76983834: 76983840
11 PEX2 NM_001079867.1(PEX2): c.834_838delTACTT (p.Phe278Leufs) deletion Likely pathogenic rs267608188 GRCh38 Chromosome 8, 76983341: 76983345
12 PEX2 NM_001079867.1(PEX2): c.834_838delTACTT (p.Phe278Leufs) deletion Likely pathogenic rs267608188 GRCh37 Chromosome 8, 77895577: 77895581

Expression for Peroxisome Biogenesis Disorder 5a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 5a.

Pathways for Peroxisome Biogenesis Disorder 5a

GO Terms for Peroxisome Biogenesis Disorder 5a

Sources for Peroxisome Biogenesis Disorder 5a

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
Content
Loading form....