PBD5B
MCID: PRX047
MIFTS: 27

Peroxisome Biogenesis Disorder 5b (PBD5B)

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 5b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 5b:

Name: Peroxisome Biogenesis Disorder 5b 57 72 29 13 6 70
Pbd5b 57 72
Peroxisome Biogenesis Disorder, Type 5b 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
peroxisome biogenesis disorder 5b:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


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) (Updated 05-Apr-2021)

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 eye and liver, and related phenotypes are pes cavus and nystagmus

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Peroxisome Biogenesis Disorder 5b:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 occasional (7.5%) HP:0001761
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 tremor 31 HP:0001337
5 global developmental delay 31 HP:0001263
6 sensorineural hearing impairment 31 HP:0000407
7 visual impairment 31 HP:0000505
8 neonatal hypotonia 31 HP:0001319
9 dysmetria 31 HP:0001310
10 hyporeflexia 31 HP:0001265
11 very long chain fatty acid accumulation 31 HP:0008167
12 rod-cone dystrophy 31 HP:0000510
13 cerebellar atrophy 31 HP:0001272
14 oculomotor apraxia 31 HP:0000657
15 generalized hypotonia 31 HP:0001290
16 unsteady gait 31 HP:0002317
17 elevated levels of phytanic acid 31 HP:0010571
18 decreased liver function 31 HP:0001410
19 slow saccadic eye movements 31 HP:0000514
20 difficulty running 31 HP:0009046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 5b

Articles related to Peroxisome Biogenesis Disorder 5b:

(show all 15)
# Title Authors PMID Year
1
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 6 57
23430938 2012
2
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. 6 57
21392394 2011
3
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 6 57
14630978 2004
4
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 6 57
10528859 1999
5
A new type of peroxisomal disorder with variable expression in liver and fibroblasts. 57 6
7931872 1994
6
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. 6
23590336 2014
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
8
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 6
21465523 2011
9
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
10
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6
17041890 2006
11
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
12
A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. 6
9452066 1998
13
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 6
7541833 1995
14
A human gene responsible for Zellweger syndrome that affects peroxisome assembly. 6
1546315 1992
15
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

Variations for Peroxisome Biogenesis Disorder 5b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 5b:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX2 NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) SNV Pathogenic 13705 rs61752119 GRCh37: 8:77896252-77896252
GRCh38: 8:76984016-76984016
2 PEX2 NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) SNV Pathogenic 139590 rs61752127 GRCh37: 8:77895746-77895746
GRCh38: 8:76983510-76983510
3 PEX2 NM_000318.3(PEX2):c.865dup (p.Ser289fs) Duplication Pathogenic 162495 rs724160029 GRCh37: 8:77895549-77895550
GRCh38: 8:76983313-76983314
4 PEX2 NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) SNV Pathogenic 13704 rs61752123 GRCh37: 8:77896060-77896060
GRCh38: 8:76983824-76983824
5 PEX2 NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) Deletion Likely pathogenic 287499 rs764771123 GRCh37: 8:77896070-77896076
GRCh38: 8:76983834-76983840
6 PEX2 NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) SNV Likely pathogenic 549898 rs61752124 GRCh37: 8:77896042-77896042
GRCh38: 8:76983806-76983806
7 PEX2 NM_000318.3(PEX2):c.354_355del (p.Arg119fs) Deletion Likely pathogenic 554942 rs1554584505 GRCh37: 8:77896060-77896061
GRCh38: 8:76983824-76983825
8 PEX2 NM_000318.3(PEX2):c.829_833TACTT[1] (p.Phe278fs) Microsatellite Likely pathogenic 371741 rs267608188 GRCh37: 8:77895577-77895581
GRCh38: 8:76983341-76983345
9 PEX2 NM_000318.3(PEX2):c.502_503del (p.Glu168fs) Deletion Likely pathogenic 551636 rs1554584474 GRCh37: 8:77895912-77895913
GRCh38: 8:76983676-76983677
10 PEX2 NM_000318.3(PEX2):c.472del (p.Leu158fs) Deletion Likely pathogenic 552895 rs1554584487 GRCh37: 8:77895943-77895943
GRCh38: 8:76983707-76983707
11 PEX2 NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) SNV Likely pathogenic 553956 rs200065382 GRCh37: 8:77896111-77896111
GRCh38: 8:76983875-76983875
12 PEX2 NM_000318.3(PEX2):c.857_859del (p.Glu286del) Deletion Uncertain significance 554426 rs1460738027 GRCh37: 8:77895556-77895558
GRCh38: 8:76983320-76983322
13 PEX2 NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) Deletion Uncertain significance 553907 rs1554584423 GRCh37: 8:77895709-77895714
GRCh38: 8:76983473-76983478
14 PEX2 NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) SNV Uncertain significance 551715 rs1554584377 GRCh37: 8:77895531-77895531
GRCh38: 8:76983295-76983295
15 PEX2 NM_000318.3(PEX2):c.769A>G (p.Ile257Val) SNV Uncertain significance 363816 rs199874465 GRCh37: 8:77895646-77895646
GRCh38: 8:76983410-76983410
16 PEX2 NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) SNV Uncertain significance 556544 rs1554584372 GRCh37: 8:77895499-77895499
GRCh38: 8:76983263-76983263
17 PEX2 NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) Microsatellite Uncertain significance 556834 rs1554584507 GRCh37: 8:77896061-77896063
GRCh38: 8:76983825-76983827
18 PEX2 NM_000318.3(PEX2):c.782A>G (p.His261Arg) SNV Uncertain significance 557949 rs749956542 GRCh37: 8:77895633-77895633
GRCh38: 8:76983397-76983397
19 PEX2 NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) SNV Uncertain significance 596242 rs140963177 GRCh37: 8:77896133-77896133
GRCh38: 8:76983897-76983897
20 PEX2 NM_000318.3(PEX2):c.-17-2A>G SNV Uncertain significance 556923 rs1289852067 GRCh37: 8:77896433-77896433
GRCh38: 8:76984197-76984197
21 PEX2 NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) SNV Uncertain significance 92838 rs149287302 GRCh37: 8:77896324-77896324
GRCh38: 8:76984088-76984088

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

72
# Symbol AA change Variation ID SNP ID
1 PEX2 p.Glu55Lys VAR_011389 rs61752119

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

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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