PBD7B
MCID: PRX068
MIFTS: 25

Peroxisome Biogenesis Disorder 7b (PBD7B)

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 7b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 7b:

Name: Peroxisome Biogenesis Disorder 7b 57 72 29 13 6 70
Pbd7b 57 72
Peroxisome Biogenesis Disorder, Type 7b 39

Characteristics:

OMIM®:

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

Miscellaneous:
survival to ages 4-12 years
based on studies of cell lines


HPO:

31
peroxisome biogenesis disorder 7b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614873
OMIM Phenotypic Series 57 PS214100
MeSH 44 D052919
UMLS 70 C3553951

Summaries for Peroxisome Biogenesis Disorder 7b

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 PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see 214100. (614873) (Updated 05-Apr-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 7b, is also known as pbd7b. An important gene associated with Peroxisome Biogenesis Disorder 7b is PEX26 (Peroxisomal Biogenesis Factor 26). Affiliated tissues include liver, and related phenotypes are global developmental delay and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 7B: 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 7b

Human phenotypes related to Peroxisome Biogenesis Disorder 7b:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 sensorineural hearing impairment 31 HP:0000407
3 visual impairment 31 HP:0000505
4 neonatal hypotonia 31 HP:0001319
5 retinal dystrophy 31 HP:0000556
6 decreased liver function 31 HP:0001410

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
low import of catalase by peroxisomes in patient fibroblasts (import increased or restored by culturing at 30 degrees c)
normal but inefficient import of thiolase by peroxisomes in patient fibroblasts (numbers of thiolase-positive peroxisomes increased by culturing at 30 degrees c)

Clinical features from OMIM®:

614873 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 7b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 7b

Genetic Tests for Peroxisome Biogenesis Disorder 7b

Genetic tests related to Peroxisome Biogenesis Disorder 7b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 7b 29 PEX26

Anatomical Context for Peroxisome Biogenesis Disorder 7b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 7b:

40
Liver

Publications for Peroxisome Biogenesis Disorder 7b

Articles related to Peroxisome Biogenesis Disorder 7b:

# Title Authors PMID Year
1
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 6 57
12851857 2003
2
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 57 6
12717447 2003
3
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
4
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 6
26287655 2016
5
Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins. 6
26627908 2015
6
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
7
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 6
16257970 2006
8
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 6
15858711 2005
9
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
10
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 6
9090381 1997

Variations for Peroxisome Biogenesis Disorder 7b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 7b:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX26 NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) SNV Pathogenic 2156 rs74315506 GRCh37: 22:18561144-18561144
GRCh38: 22:18078378-18078378
2 PEX26 NM_001127649.3(PEX26):c.254dup (p.Cys86fs) Duplication Pathogenic 2158 rs61752133 GRCh37: 22:18562662-18562663
GRCh38: 22:18079896-18079897
3 PEX26 NM_001127649.3(PEX26):c.354del (p.Val120fs) Deletion Pathogenic 954945 GRCh37: 22:18562758-18562758
GRCh38: 22:18079992-18079992
4 PEX26 NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) SNV Pathogenic 2157 rs61752132 GRCh37: 22:18561276-18561276
GRCh38: 22:18078510-18078510
5 PEX26 NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) Indel Pathogenic 970602 GRCh37: 22:18561320-18561321
GRCh38: 22:18078554-18078555
6 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 GRCh37: 22:18562701-18562701
GRCh38: 22:18079935-18079935
7 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
8 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 GRCh37: 22:18562701-18562701
GRCh38: 22:18079935-18079935
9 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
10 PEX26 NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) SNV Pathogenic 958722 GRCh37: 22:18566324-18566324
GRCh38: 22:18083558-18083558
11 PEX26 NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) SNV Conflicting interpretations of pathogenicity 288461 rs201884779 GRCh37: 22:18561342-18561342
GRCh38: 22:18078576-18078576
12 PEX26 NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) SNV Conflicting interpretations of pathogenicity 195337 rs150895887 GRCh37: 22:18561272-18561272
GRCh38: 22:18078506-18078506
13 PEX26 NM_001127649.3(PEX26):c.911G>A (p.Arg304His) SNV Conflicting interpretations of pathogenicity 287097 rs17851387 GRCh37: 22:18570834-18570834
GRCh38: 22:18088068-18088068
14 PEX26 NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) SNV Uncertain significance 287366 rs142648687 GRCh37: 22:18566240-18566240
GRCh38: 22:18083474-18083474
15 PEX26 NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) SNV Uncertain significance 498175 rs150451390 GRCh37: 22:18566402-18566402
GRCh38: 22:18083636-18083636
16 PEX26 NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) SNV Uncertain significance 938319 GRCh37: 22:18561219-18561219
GRCh38: 22:18078453-18078453
17 PEX26 NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala) SNV Uncertain significance 957524 GRCh37: 22:18561311-18561311
GRCh38: 22:18078545-18078545
18 overlap with 2 genes NC_000022.11:g.(?_17877577)_(18088075_?)dup Duplication Uncertain significance 831643 GRCh37: 22:18360343-18570841
GRCh38:
19 PEX26 NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) SNV Uncertain significance 863150 GRCh37: 22:18566403-18566403
GRCh38: 22:18083637-18083637
20 PEX26 NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly) SNV Uncertain significance 999563 GRCh37: 22:18561200-18561200
GRCh38: 22:18078434-18078434
21 PEX26 NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) SNV Uncertain significance 2157 rs61752132 GRCh37: 22:18561276-18561276
GRCh38: 22:18078510-18078510
22 PEX26 NM_001127649.3(PEX26):c.267G>T (p.Gly89=) SNV Uncertain significance 1004122 GRCh37: 22:18562676-18562676
GRCh38: 22:18079910-18079910
23 PEX26 NM_001127649.3(PEX26):c.605C>T (p.Ala202Val) SNV Uncertain significance 1005974 GRCh37: 22:18566436-18566436
GRCh38: 22:18083670-18083670
24 PEX26 NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg) SNV Uncertain significance 594230 rs771847925 GRCh37: 22:18561213-18561213
GRCh38: 22:18078447-18078447
25 PEX26 NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) SNV Uncertain significance 281576 rs768425084 GRCh37: 22:18561171-18561171
GRCh38: 22:18078405-18078405
26 PEX26 NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) SNV Uncertain significance 846464 GRCh37: 22:18562648-18562648
GRCh38: 22:18079882-18079882
27 PEX26 NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) SNV Uncertain significance 852738 GRCh37: 22:18570833-18570833
GRCh38: 22:18088067-18088067
28 PEX26 NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) SNV Uncertain significance 449363 rs61752135 GRCh37: 22:18562762-18562762
GRCh38: 22:18079996-18079996
29 PEX26 NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) SNV Uncertain significance 937674 GRCh37: 22:18566212-18566212
GRCh38: 22:18083446-18083446
30 PEX26 NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) SNV Uncertain significance 940519 GRCh37: 22:18570774-18570774
GRCh38: 22:18088008-18088008
31 PEX26 NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly) SNV Uncertain significance 956289 GRCh37: 22:18566400-18566400
GRCh38: 22:18083634-18083634
32 PEX26 NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) SNV Uncertain significance 966612 GRCh37: 22:18567908-18567908
GRCh38: 22:18085142-18085142
33 PEX26 NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg) SNV Uncertain significance 1014481 GRCh37: 22:18567968-18567968
GRCh38: 22:18085202-18085202
34 PEX26 NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe) SNV Uncertain significance 1020935 GRCh37: 22:18567994-18567994
GRCh38: 22:18085228-18085228
35 PEX26 NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) SNV Uncertain significance 340752 rs766581207 GRCh37: 22:18561350-18561350
GRCh38: 22:18078584-18078584
36 PEX26 NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg) SNV Uncertain significance 597917 rs767603690 GRCh37: 22:18570777-18570777
GRCh38: 22:18088011-18088011
37 PEX26 NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr) SNV Uncertain significance 1023224 GRCh37: 22:18562719-18562719
GRCh38: 22:18079953-18079953
38 PEX26 NM_001127649.3(PEX26):c.262G>A (p.Val88Met) SNV Uncertain significance 1025972 GRCh37: 22:18562671-18562671
GRCh38: 22:18079905-18079905
39 PEX26 NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) SNV Uncertain significance 844366 GRCh37: 22:18562743-18562743
GRCh38: 22:18079977-18079977
40 PEX26 NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) SNV Uncertain significance 498392 rs757411841 GRCh37: 22:18567926-18567926
GRCh38: 22:18085160-18085160
41 PEX26 NM_001127649.3(PEX26):c.129_131CCT[1] (p.Leu45del) Microsatellite Uncertain significance 857575 GRCh37: 22:18561271-18561273
GRCh38: 22:18078505-18078507
42 PEX26 NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) SNV Uncertain significance 597480 rs200279475 GRCh37: 22:18561174-18561174
GRCh38: 22:18078408-18078408
43 PEX26 NM_001127649.3(PEX26):c.230+3A>G SNV Uncertain significance 595256 rs757200331 GRCh37: 22:18561375-18561375
GRCh38: 22:18078609-18078609
44 PEX26 NM_001127649.3(PEX26):c.710G>A (p.Arg237His) SNV Uncertain significance 573858 rs370821533 GRCh37: 22:18567920-18567920
GRCh38: 22:18085154-18085154
45 PEX26 NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) Duplication Uncertain significance 283588 rs759821636 GRCh37: 22:18570817-18570818
GRCh38: 22:18088051-18088052
46 PEX26 NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) SNV Uncertain significance 501434 rs369695924 GRCh37: 22:18566327-18566327
GRCh38: 22:18083561-18083561
47 PEX26 NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) SNV Uncertain significance 942090 GRCh37: 22:18566466-18566466
GRCh38: 22:18083700-18083700
48 PEX26 NM_001127649.3(PEX26):c.371+6T>C SNV Uncertain significance 951220 GRCh37: 22:18562786-18562786
GRCh38: 22:18080020-18080020
49 PEX26 NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe) SNV Uncertain significance 958385 GRCh37: 22:18561165-18561165
GRCh38: 22:18078399-18078399
50 PEX26 NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro) SNV Uncertain significance 958721 GRCh37: 22:18566337-18566337
GRCh38: 22:18083571-18083571

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 7b:

72
# Symbol AA change Variation ID SNP ID
1 PEX26 p.Leu45Pro VAR_018647 rs61752132
2 PEX26 p.Arg98Trp VAR_018649 rs62641228

Expression for Peroxisome Biogenesis Disorder 7b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 7b.

Pathways for Peroxisome Biogenesis Disorder 7b

GO Terms for Peroxisome Biogenesis Disorder 7b

Sources for Peroxisome Biogenesis Disorder 7b

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
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44 MeSH
45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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