PBD7B
MCID: PRX068
MIFTS: 21

Peroxisome Biogenesis Disorder 7b (PBD7B)

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 7b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 7b:

Name: Peroxisome Biogenesis Disorder 7b 58 76 30 13 6 74
Pbd7b 58 76
Peroxisome Biogenesis Disorder, Type 7b 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
peroxisome biogenesis disorder 7b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 7b

OMIM : 58 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)

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 eye, and related phenotypes are global developmental delay and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 76 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 HP:0001263
2 sensorineural hearing impairment 33 HP:0000407
3 visual impairment 33 HP:0000505
4 neonatal hypotonia 33 HP:0001319
5 decreased liver function 33 HP:0001410
6 retinal dystrophy 33 HP:0000556

Symptoms via clinical synopsis from OMIM:

58
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

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 30 PEX26

Anatomical Context for Peroxisome Biogenesis Disorder 7b

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

42
Eye

Publications for Peroxisome Biogenesis Disorder 7b

Articles related to Peroxisome Biogenesis Disorder 7b:

# Title Authors Year
1
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. ( 15858711 )
2005
2
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ( 15542397 )
2004
3
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. ( 12851857 )
2003
4
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. ( 12717447 )
2003
5
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ( 9090381 )
1997

Variations for Peroxisome Biogenesis Disorder 7b

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

76
# Symbol AA change Variation ID SNP ID
1 PEX26 p.Leu45Pro VAR_018647 rs61752132
2 PEX26 p.Arg98Trp VAR_018649 rs62641228

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 7b:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX26 NM_017929.5(PEX26): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs62641228 GRCh37 Chromosome 22, 18562701: 18562701
2 PEX26 NM_017929.5(PEX26): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs62641228 GRCh38 Chromosome 22, 18079935: 18079935
3 PEX26 NM_017929.5(PEX26): c.34dupC (p.Leu12Profs) duplication Pathogenic rs61752129 GRCh37 Chromosome 22, 18561176: 18561176
4 PEX26 NM_017929.5(PEX26): c.34dupC (p.Leu12Profs) duplication Pathogenic rs61752129 GRCh38 Chromosome 22, 18078410: 18078410
5 PEX26 NM_017929.5(PEX26): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs74315506 GRCh37 Chromosome 22, 18561144: 18561144
6 PEX26 NM_017929.5(PEX26): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs74315506 GRCh38 Chromosome 22, 18078378: 18078378
7 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh37 Chromosome 22, 18561276: 18561276
8 PEX26 NM_017929.5(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 GRCh38 Chromosome 22, 18078510: 18078510
9 PEX26 NM_017929.5(PEX26): c.254dupT (p.Cys86Valfs) duplication Pathogenic rs61752133 GRCh37 Chromosome 22, 18562663: 18562663
10 PEX26 NM_017929.5(PEX26): c.254dupT (p.Cys86Valfs) duplication Pathogenic rs61752133 GRCh38 Chromosome 22, 18079897: 18079897
11 PEX26 NM_017929.5(PEX26): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs17851387 GRCh37 Chromosome 22, 18570834: 18570834
12 PEX26 NM_017929.5(PEX26): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs17851387 GRCh38 Chromosome 22, 18088068: 18088068
13 PEX26 NM_017929.5(PEX26): c.409G> C (p.Val137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142648687 GRCh37 Chromosome 22, 18566240: 18566240
14 PEX26 NM_017929.5(PEX26): c.409G> C (p.Val137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142648687 GRCh38 Chromosome 22, 18083474: 18083474
15 PEX26 NM_017929.5(PEX26): c.200A> G (p.Asn67Ser) single nucleotide variant Uncertain significance rs201884779 GRCh37 Chromosome 22, 18561342: 18561342
16 PEX26 NM_017929.5(PEX26): c.200A> G (p.Asn67Ser) single nucleotide variant Uncertain significance rs201884779 GRCh38 Chromosome 22, 18078576: 18078576
17 PEX26 NM_017929.5(PEX26): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs150451390 GRCh37 Chromosome 22, 18566402: 18566402
18 PEX26 NM_017929.5(PEX26): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs150451390 GRCh38 Chromosome 22, 18083636: 18083636
19 PEX26 NM_017929.5(PEX26): c.710G> A (p.Arg237His) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18085154: 18085154
20 PEX26 NM_017929.5(PEX26): c.710G> A (p.Arg237His) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18567920: 18567920

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

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