PBD5B
MCID: PRX047
MIFTS: 23

Peroxisome Biogenesis Disorder 5b (PBD5B)

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 5b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 5b:

Name: Peroxisome Biogenesis Disorder 5b 57 75 29 13 6 73
Pbd5b 57 75
Peroxisome Biogenesis Disorder, Type 5b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in infancy or childhood
six patients from 4 families have been reported (last curated january 2015)


HPO:

32
peroxisome biogenesis disorder 5b:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 5b

OMIM : 57 The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see 214100. (614867)

MalaCards based summary : Peroxisome Biogenesis Disorder 5b, is also known as pbd5b, and has symptoms including tremor and cerebellar ataxia. An important gene associated with Peroxisome Biogenesis Disorder 5b is PEX2 (Peroxisomal Biogenesis Factor 2). Affiliated tissues include liver and eye, and related phenotypes are nystagmus and dysarthria

UniProtKB/Swiss-Prot : 75 Peroxisome biogenesis disorder 5B: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 5b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
oculomotor apraxia
slow saccades
retinitis pigmentosa (1 patient)

Neurologic Peripheral Nervous System:
hyporeflexia
axonal sensorimotor neuropathy (1 patient)

Laboratory Abnormalities:
increased phytanic acid
very long-chain fatty acids may be normal or increased
increased pristanic acid
increased bile acid intermediates (dhca and thca)

Head And Neck Ears:
hypoacusia (1 patient)

Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
cerebellar atrophy
difficulty running
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
pes cavus (1 patient)


Clinical features from OMIM:

614867

Human phenotypes related to Peroxisome Biogenesis Disorder 5b:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 global developmental delay 32 HP:0001263
5 sensorineural hearing impairment 32 HP:0000407
6 visual impairment 32 HP:0000505
7 neonatal hypotonia 32 HP:0001319
8 decreased liver function 32 HP:0001410
9 dysmetria 32 HP:0001310
10 pes cavus 32 occasional (7.5%) HP:0001761
11 hyporeflexia 32 HP:0001265
12 rod-cone dystrophy 32 HP:0000510
13 cerebellar atrophy 32 HP:0001272
14 generalized hypotonia 32 HP:0001290
15 oculomotor apraxia 32 HP:0000657
16 difficulty running 32 HP:0009046
17 slow saccadic eye movements 32 HP:0000514
18 unsteady gait 32 HP:0002317
19 very long chain fatty acid accumulation 32 HP:0008167
20 elevated levels of phytanic acid 32 HP:0010571

UMLS symptoms related to Peroxisome Biogenesis Disorder 5b:


tremor, cerebellar ataxia

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 5b

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

Genetic Tests for Peroxisome Biogenesis Disorder 5b

Genetic tests related to Peroxisome Biogenesis Disorder 5b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 5b 29 PEX2

Anatomical Context for Peroxisome Biogenesis Disorder 5b

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

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 5b

Variations for Peroxisome Biogenesis Disorder 5b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 5b:

75
# Symbol AA change Variation ID SNP ID
1 PEX2 p.Glu55Lys VAR_011389 rs61752119

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 5b:

6 (show all 40)
# 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.163G> A (p.Glu55Lys) single nucleotide variant Pathogenic rs61752119 GRCh37 Chromosome 8, 77896252: 77896252
4 PEX2 NM_001079867.1(PEX2): c.163G> A (p.Glu55Lys) single nucleotide variant Pathogenic rs61752119 GRCh38 Chromosome 8, 76984016: 76984016
5 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh37 Chromosome 8, 77896324: 77896324
6 PEX2 NM_000318.2(PEX2): c.91C> G (p.Gln31Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs149287302 GRCh38 Chromosome 8, 76984088: 76984088
7 PEX2 NM_001079867.1(PEX2): c.669G> A (p.Trp223Ter) single nucleotide variant Pathogenic rs61752127 GRCh37 Chromosome 8, 77895746: 77895746
8 PEX2 NM_001079867.1(PEX2): c.669G> A (p.Trp223Ter) single nucleotide variant Pathogenic rs61752127 GRCh38 Chromosome 8, 76983510: 76983510
9 PEX2 NM_000318.2(PEX2): c.865dupA (p.Ser289Lysfs) duplication Pathogenic rs724160029 GRCh37 Chromosome 8, 77895550: 77895550
10 PEX2 NM_000318.2(PEX2): c.865dupA (p.Ser289Lysfs) duplication Pathogenic rs724160029 GRCh38 Chromosome 8, 76983314: 76983314
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

Expression for Peroxisome Biogenesis Disorder 5b

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

Pathways for Peroxisome Biogenesis Disorder 5b

GO Terms for Peroxisome Biogenesis Disorder 5b

Sources for Peroxisome Biogenesis Disorder 5b

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