MCID: PRX047
MIFTS: 22

Peroxisome Biogenesis Disorder 5b

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 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 cerebellar ataxia and tremor. 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
unsteady gait
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 cerebellar atrophy 32 HP:0001272
13 oculomotor apraxia 32 HP:0000657
14 rod-cone dystrophy 32 HP:0000510
15 generalized hypotonia 32 HP:0001290
16 unsteady gait 32 HP:0002317
17 slow saccadic eye movements 32 HP:0000514
18 very long chain fatty acid accumulation 32 HP:0008167
19 elevated levels of phytanic acid 32 HP:0010571
20 difficulty running 32 HP:0009046

UMLS symptoms related to Peroxisome Biogenesis Disorder 5b:


cerebellar ataxia, tremor

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 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.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_001079867.1(PEX2): c.669G> A (p.Trp223Ter) single nucleotide variant Pathogenic rs61752127 GRCh37 Chromosome 8, 77895746: 77895746
6 PEX2 NM_001079867.1(PEX2): c.669G> A (p.Trp223Ter) single nucleotide variant Pathogenic rs61752127 GRCh38 Chromosome 8, 76983510: 76983510
7 PEX2 NM_000318.2(PEX2): c.865dupA (p.Ser289Lysfs) duplication Pathogenic rs724160029 GRCh37 Chromosome 8, 77895550: 77895550
8 PEX2 NM_000318.2(PEX2): c.865dupA (p.Ser289Lysfs) duplication Pathogenic rs724160029 GRCh38 Chromosome 8, 76983314: 76983314
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 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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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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