PBD5A
MCID: PRX060
MIFTS: 29

Peroxisome Biogenesis Disorder 5a (PBD5A)

Categories: Endocrine 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 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 seizures and icterus. An important gene associated with Peroxisome Biogenesis Disorder 5a is PEX2 (Peroxisomal Biogenesis Factor 2). Affiliated tissues include liver, eye and heart, and related phenotypes are hypertelorism and low-set ears

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
Abdomen Spleen:
splenomegaly

Head And Neck Mouth:
cleft palate

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

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:

41
Liver, Eye, 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 42)
# 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_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh37 Chromosome 8, 77896324: 77896324
4 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh38 Chromosome 8, 76984088: 76984088
5 PEX2 NM_001079867.1(PEX2): c.279_283delGAGAT (p.Arg94Serfs) deletion Pathogenic rs61752122 GRCh37 Chromosome 8, 77896132: 77896136
6 PEX2 NM_001079867.1(PEX2): c.279_283delGAGAT (p.Arg94Serfs) deletion Pathogenic rs61752122 GRCh38 Chromosome 8, 76983896: 76983900
7 PEX2 NM_001079867.1(PEX2): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs61752128 GRCh37 Chromosome 8, 77895676: 77895676
8 PEX2 NM_001079867.1(PEX2): c.739T> C (p.Cys247Arg) single nucleotide variant Pathogenic rs61752128 GRCh38 Chromosome 8, 76983440: 76983440
9 PEX2 NM_000318.2(PEX2): c.733G> A (p.Ala245Thr) single nucleotide variant Benign/Likely benign rs112108739 GRCh37 Chromosome 8, 77895682: 77895682
10 PEX2 NM_000318.2(PEX2): c.733G> A (p.Ala245Thr) single nucleotide variant Benign/Likely benign rs112108739 GRCh38 Chromosome 8, 76983446: 76983446
11 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh37 Chromosome 8, 77896070: 77896076
12 PEX2 NM_000318.2(PEX2): c.339_345delCAGGTGG (p.Arg114Terfs) deletion Pathogenic/Likely pathogenic rs764771123 GRCh38 Chromosome 8, 76983834: 76983840
13 PEX2 NM_000318.2(PEX2): c.769A> G (p.Ile257Val) single nucleotide variant Uncertain significance rs199874465 GRCh37 Chromosome 8, 77895646: 77895646
14 PEX2 NM_000318.2(PEX2): c.769A> G (p.Ile257Val) single nucleotide variant Uncertain significance rs199874465 GRCh38 Chromosome 8, 76983410: 76983410
15 PEX2 NM_001079867.1(PEX2): c.834_838delTACTT (p.Phe278Leufs) deletion Likely pathogenic rs267608188 GRCh38 Chromosome 8, 76983341: 76983345
16 PEX2 NM_001079867.1(PEX2): c.834_838delTACTT (p.Phe278Leufs) deletion Likely pathogenic rs267608188 GRCh37 Chromosome 8, 77895577: 77895581
17 PEX2 NM_000318.2(PEX2): c.857_859delAAG (p.Glu286del) deletion Uncertain significance GRCh37 Chromosome 8, 77895555: 77895558
18 PEX2 NM_000318.2(PEX2): c.857_859delAAG (p.Glu286del) deletion Uncertain significance GRCh38 Chromosome 8, 76983320: 76983322
19 PEX2 NM_000318.2(PEX2): c.502_503delGA (p.Glu168Thrfs) deletion Likely pathogenic GRCh37 Chromosome 8, 77895911: 77895913
20 PEX2 NM_000318.2(PEX2): c.502_503delGA (p.Glu168Thrfs) deletion Likely pathogenic GRCh38 Chromosome 8, 76983676: 76983677
21 PEX2 NM_000318.2(PEX2): c.472delC (p.Leu158Phefs) deletion Likely pathogenic GRCh37 Chromosome 8, 77895942: 77895943
22 PEX2 NM_000318.2(PEX2): c.472delC (p.Leu158Phefs) deletion Likely pathogenic GRCh38 Chromosome 8, 76983707: 76983707
23 PEX2 NM_000318.2(PEX2): c.701_706del6 (p.Asp234_Thr236delinsAla) deletion Uncertain significance GRCh37 Chromosome 8, 77895708: 77895714
24 PEX2 NM_000318.2(PEX2): c.701_706del6 (p.Asp234_Thr236delinsAla) deletion Uncertain significance GRCh38 Chromosome 8, 76983473: 76983478
25 PEX2 NM_000318.2(PEX2): c.373C> T (p.Arg125Ter) single nucleotide variant Likely pathogenic rs61752124 GRCh37 Chromosome 8, 77896042: 77896042
26 PEX2 NM_000318.2(PEX2): c.373C> T (p.Arg125Ter) single nucleotide variant Likely pathogenic rs61752124 GRCh38 Chromosome 8, 76983806: 76983806
27 PEX2 NM_000318.2(PEX2): c.304C> T (p.Gln102Ter) single nucleotide variant Likely pathogenic rs200065382 GRCh37 Chromosome 8, 77896111: 77896111
28 PEX2 NM_000318.2(PEX2): c.304C> T (p.Gln102Ter) single nucleotide variant Likely pathogenic rs200065382 GRCh38 Chromosome 8, 76983875: 76983875
29 PEX2 NM_000318.2(PEX2): c.782A> G (p.His261Arg) single nucleotide variant Uncertain significance rs749956542 GRCh37 Chromosome 8, 77895633: 77895633
30 PEX2 NM_000318.2(PEX2): c.782A> G (p.His261Arg) single nucleotide variant Uncertain significance rs749956542 GRCh38 Chromosome 8, 76983397: 76983397
31 PEX2 NM_000318.2(PEX2): c.916T> C (p.Ter306Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 77895499: 77895499
32 PEX2 NM_000318.2(PEX2): c.916T> C (p.Ter306Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 76983263: 76983263
33 PEX2 NM_000318.2(PEX2): c.884C> G (p.Ser295Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 77895531: 77895531
34 PEX2 NM_000318.2(PEX2): c.884C> G (p.Ser295Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 76983295: 76983295
35 PEX2 NM_000318.2(PEX2): c.354_355delAC (p.Arg119Metfs) deletion Likely pathogenic GRCh37 Chromosome 8, 77896059: 77896061
36 PEX2 NM_000318.2(PEX2): c.354_355delAC (p.Arg119Metfs) deletion Likely pathogenic GRCh38 Chromosome 8, 76983824: 76983825
37 PEX2 NM_000318.2(PEX2): c.352_354delGAA (p.Glu118del) deletion Uncertain significance GRCh37 Chromosome 8, 77896060: 77896063
38 PEX2 NM_000318.2(PEX2): c.352_354delGAA (p.Glu118del) deletion Uncertain significance GRCh38 Chromosome 8, 76983825: 76983827
39 PEX2 NM_000318.2(PEX2): c.-17-2A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 77896433: 77896433
40 PEX2 NM_000318.2(PEX2): c.-17-2A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 76984197: 76984197
41 PEX2 NM_000318.2(PEX2): c.716C> T (p.Thr239Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 76983463: 76983463
42 PEX2 NM_000318.2(PEX2): c.716C> T (p.Thr239Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 77895699: 77895699

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

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