PBD5A
MCID: PRX060
MIFTS: 33

Peroxisome Biogenesis Disorder 5a (PBD5A)

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 5a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 5a:

Name: Peroxisome Biogenesis Disorder 5a 57 12 72 29 13 6 70
Pbd5a 57 72
Peroxisome Biogenesis Disorder Complementation Group 10 72
Peroxisome Biogenesis Disorder Complementation Group 5 72
Peroxisome Biogenesis Disorder Complementation Group F 72
Peroxisome Biogenesis Disorder, Type 5a 39
Zellweger Syndrome 3 72
Pbd-Cg10 72
Pbd-Cgf 72
Pbd-Cg5 72
Zws3 72
Cg5 72

Characteristics:

OMIM®:

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

Miscellaneous:
death in infancy or early childhood


HPO:

31
peroxisome biogenesis disorder 5a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 5a

UniProtKB/Swiss-Prot : 72 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 seizures and icterus. An important gene associated with Peroxisome Biogenesis Disorder 5a is PEX2 (Peroxisomal Biogenesis Factor 2). Affiliated tissues include eye 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 PEX2 gene on chromosome 8q21.

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) (Updated 05-Apr-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 5a

Human phenotypes related to Peroxisome Biogenesis Disorder 5a:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
areflexia
polymicrogyria
macrogyria
hypotonia
more
Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
hypertelorism
brushfield spots
pigmentary retinopathy
optic nerve dysplasia
epicanthic folds
more
Skeletal Feet:
metatarsus adductus
talipes equinovarus

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
jaundice

Genitourinary External Genitalia Female:
clitoromegaly

Skeletal Hands:
camptodactyly
transverse palmar crease

Cardiovascular Heart:
congenital heart defect

Skeletal Skull:
large fontanels

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

Growth Other:
failure to thrive
prenatal growth failure

Abdomen Liver:
hepatomegaly
intrahepatic biliary dysgenesis

Head And Neck Mouth:
cleft palate

Head And Neck Face:
flat face
micrognathia
round face

Skeletal Limbs:
cubitus valgus

Head And Neck Head:
high forehead
dolichoturricephaly

Abdomen Gastrointestinal:
poor suck

Skeletal:
stippled chondral calcification
chondrodysplasia punctata

Head And Neck Ears:
low set ears
helix abnormal

Genitourinary Kidneys:
multiple small renal cortical cysts

Clinical features from OMIM®:

614866 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 5a:


seizures; icterus

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:

40
Eye, Heart

Publications for Peroxisome Biogenesis Disorder 5a

Articles related to Peroxisome Biogenesis Disorder 5a:

(show all 17)
# Title Authors PMID Year
1
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 6 57
14630978 2004
2
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect. 6 57
7681622 1993
3
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 6 57
1546315 1992
4
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 6
23590336 2014
5
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 6
23430938 2012
6
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 6
21465523 2011
7
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
8
Peroxisome biogenesis disorders. 57
17055079 2006
9
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6
17041890 2006
10
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
11
Molecular mechanism of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient. 6
10652207 2000
12
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 6
10528859 1999
13
Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 6
9585609 1998
14
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 6
9452066 1998
15
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 6
7541833 1995
16
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. 6
2454948 1988
17
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. 61
16121806 2005

Variations for Peroxisome Biogenesis Disorder 5a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 5a:

6 (show top 50) (show all 161)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX2 NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) SNV Pathogenic 139589 rs61752128 GRCh37: 8:77895676-77895676
GRCh38: 8:76983440-76983440
2 PEX2 NM_000318.3(PEX2):c.550del (p.Cys184fs) Deletion Pathogenic 641647 rs63545361 GRCh37: 8:77895865-77895865
GRCh38: 8:76983629-76983629
3 PEX2 NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) SNV Pathogenic 649982 rs1586070043 GRCh37: 8:77896183-77896183
GRCh38: 8:76983947-76983947
4 PEX2 NM_000318.3(PEX2):c.218del (p.Asn73fs) Deletion Pathogenic 653188 rs1586070089 GRCh37: 8:77896197-77896197
GRCh38: 8:76983961-76983961
5 PEX2 NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) SNV Pathogenic 662902 rs1586069639 GRCh37: 8:77895918-77895918
GRCh38: 8:76983682-76983682
6 PEX2 NM_000318.3(PEX2):c.547_548AT[1] (p.Ile183fs) Microsatellite Pathogenic 858381 GRCh37: 8:77895865-77895866
GRCh38: 8:76983629-76983630
7 PEX2 NM_000318.3(PEX2):c.34_37del (p.Asn12fs) Deletion Pathogenic 941223 GRCh37: 8:77896378-77896381
GRCh38: 8:76984142-76984145
8 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 GRCh37: 8:77896060-77896060
GRCh38: 8:76983824-76983824
9 PEX2 NM_000318.3(PEX2):c.279_283del (p.Arg94fs) Deletion Pathogenic 139588 rs61752122 GRCh37: 8:77896132-77896136
GRCh38: 8:76983896-76983900
10 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) SNV Pathogenic 549898 rs61752124 GRCh37: 8:77896042-77896042
GRCh38: 8:76983806-76983806
11 PEX2 NM_000318.3(PEX2):c.464dup (p.Leu155fs) Duplication Pathogenic 1032984 GRCh37: 8:77895950-77895951
GRCh38: 8:76983714-76983715
12 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) Deletion Pathogenic/Likely pathogenic 287499 rs764771123 GRCh37: 8:77896070-77896076
GRCh38: 8:76983834-76983840
13 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) SNV Likely pathogenic 549898 rs61752124 GRCh37: 8:77896042-77896042
GRCh38: 8:76983806-76983806
14 PEX2 NM_000318.3(PEX2):c.354_355del (p.Arg119fs) Deletion Likely pathogenic 554942 rs1554584505 GRCh37: 8:77896060-77896061
GRCh38: 8:76983824-76983825
15 PEX2 NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) SNV Likely pathogenic 553956 rs200065382 GRCh37: 8:77896111-77896111
GRCh38: 8:76983875-76983875
16 PEX2 NM_000318.3(PEX2):c.829_833TACTT[1] (p.Phe278fs) Microsatellite Likely pathogenic 371741 rs267608188 GRCh37: 8:77895577-77895581
GRCh38: 8:76983341-76983345
17 PEX2 NM_000318.3(PEX2):c.502_503del (p.Glu168fs) Deletion Likely pathogenic 551636 rs1554584474 GRCh37: 8:77895912-77895913
GRCh38: 8:76983676-76983677
18 PEX2 NM_000318.3(PEX2):c.472del (p.Leu158fs) Deletion Likely pathogenic 552895 rs1554584487 GRCh37: 8:77895943-77895943
GRCh38: 8:76983707-76983707
19 PEX2 NM_000318.3(PEX2):c.-17-2A>G SNV Likely pathogenic 556923 rs1289852067 GRCh37: 8:77896433-77896433
GRCh38: 8:76984197-76984197
20 PEX2 NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) SNV Conflicting interpretations of pathogenicity 92838 rs149287302 GRCh37: 8:77896324-77896324
GRCh38: 8:76984088-76984088
21 PEX2 NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) SNV Conflicting interpretations of pathogenicity 282347 rs35689779 GRCh37: 8:77896206-77896206
GRCh38: 8:76983970-76983970
22 PEX2 NM_000318.3(PEX2):c.447T>G (p.Gly149=) SNV Conflicting interpretations of pathogenicity 593137 rs375401977 GRCh37: 8:77895968-77895968
GRCh38: 8:76983732-76983732
23 PEX2 NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) SNV Uncertain significance 596242 rs140963177 GRCh37: 8:77896133-77896133
GRCh38: 8:76983897-76983897
24 PEX2 NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) SNV Uncertain significance 596242 rs140963177 GRCh37: 8:77896133-77896133
GRCh38: 8:76983897-76983897
25 PEX2 NM_000318.3(PEX2):c.857_859del (p.Glu286del) Deletion Uncertain significance 554426 rs1460738027 GRCh37: 8:77895556-77895558
GRCh38: 8:76983320-76983322
26 PEX2 NM_000318.3(PEX2):c.331A>G (p.Ile111Val) SNV Uncertain significance 840122 GRCh37: 8:77896084-77896084
GRCh38: 8:76983848-76983848
27 PEX2 NM_000318.3(PEX2):c.76A>G (p.Asn26Asp) SNV Uncertain significance 841383 GRCh37: 8:77896339-77896339
GRCh38: 8:76984103-76984103
28 PEX2 NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) SNV Uncertain significance 556544 rs1554584372 GRCh37: 8:77895499-77895499
GRCh38: 8:76983263-76983263
29 PEX2 NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) Microsatellite Uncertain significance 556834 rs1554584507 GRCh37: 8:77896061-77896063
GRCh38: 8:76983825-76983827
30 PEX2 NM_000318.3(PEX2):c.782A>G (p.His261Arg) SNV Uncertain significance 557949 rs749956542 GRCh37: 8:77895633-77895633
GRCh38: 8:76983397-76983397
31 PEX2 NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) SNV Uncertain significance 658133 rs138590115 GRCh37: 8:77896276-77896276
GRCh38: 8:76984040-76984040
32 PEX2 NM_000318.3(PEX2):c.461T>C (p.Phe154Ser) SNV Uncertain significance 1006350 GRCh37: 8:77895954-77895954
GRCh38: 8:76983718-76983718
33 PEX2 NM_000318.3(PEX2):c.415G>T (p.Val139Leu) SNV Uncertain significance 834103 GRCh37: 8:77896000-77896000
GRCh38: 8:76983764-76983764
34 PEX2 NM_000318.3(PEX2):c.517A>G (p.Ile173Val) SNV Uncertain significance 967091 GRCh37: 8:77895898-77895898
GRCh38: 8:76983662-76983662
35 PEX2 NM_000318.3(PEX2):c.312C>G (p.Ile104Met) SNV Uncertain significance 1016098 GRCh37: 8:77896103-77896103
GRCh38: 8:76983867-76983867
36 PEX2 NM_000318.3(PEX2):c.571A>C (p.Met191Leu) SNV Uncertain significance 1019602 GRCh37: 8:77895844-77895844
GRCh38: 8:76983608-76983608
37 PEX2 NM_000318.3(PEX2):c.466A>G (p.Ile156Val) SNV Uncertain significance 1025275 GRCh37: 8:77895949-77895949
GRCh38: 8:76983713-76983713
38 PEX2 NM_000318.3(PEX2):c.152G>A (p.Arg51His) SNV Uncertain significance 1025622 GRCh37: 8:77896263-77896263
GRCh38: 8:76984027-76984027
39 PEX2 NM_000318.3(PEX2):c.76A>C (p.Asn26His) SNV Uncertain significance 1025874 GRCh37: 8:77896339-77896339
GRCh38: 8:76984103-76984103
40 PEX2 NM_000318.3(PEX2):c.322G>C (p.Val108Leu) SNV Uncertain significance 288695 rs148101729 GRCh37: 8:77896093-77896093
GRCh38: 8:76983857-76983857
41 PEX2 NM_000318.3(PEX2):c.78_80del (p.Asn26del) Deletion Uncertain significance 963365 GRCh37: 8:77896335-77896337
GRCh38: 8:76984099-76984101
42 PEX2 NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) SNV Uncertain significance 92838 rs149287302 GRCh37: 8:77896324-77896324
GRCh38: 8:76984088-76984088
43 PEX2 NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) Deletion Uncertain significance 553907 rs1554584423 GRCh37: 8:77895709-77895714
GRCh38: 8:76983473-76983478
44 PEX2 NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) SNV Uncertain significance 551715 rs1554584377 GRCh37: 8:77895531-77895531
GRCh38: 8:76983295-76983295
45 PEX2 NM_000318.3(PEX2):c.769A>G (p.Ile257Val) SNV Uncertain significance 363816 rs199874465 GRCh37: 8:77895646-77895646
GRCh38: 8:76983410-76983410
46 PEX2 NM_000318.3(PEX2):c.*1858G>A SNV Uncertain significance 912308 GRCh37: 8:77893639-77893639
GRCh38: 8:76981403-76981403
47 PEX2 NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) SNV Uncertain significance 934090 GRCh37: 8:77895682-77895682
GRCh38: 8:76983446-76983446
48 PEX2 NM_000318.3(PEX2):c.826G>C (p.Val276Leu) SNV Uncertain significance 500722 rs746008519 GRCh37: 8:77895589-77895589
GRCh38: 8:76983353-76983353
49 PEX2 NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) SNV Uncertain significance 965038 GRCh37: 8:77896275-77896275
GRCh38: 8:76984039-76984039
50 PEX2 NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) SNV Uncertain significance 968036 GRCh37: 8:77895673-77895673
GRCh38: 8:76983437-76983437

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 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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