PBD7B
MCID: PRX068
MIFTS: 23

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 57 74 29 13 6 72
Pbd7b 57 74
Peroxisome Biogenesis Disorder, Type 7b 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
peroxisome biogenesis disorder 7b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D052919
UMLS 72 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)

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 : 74 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 sensorineural hearing impairment 32 HP:0000407
3 visual impairment 32 HP:0000505
4 neonatal hypotonia 32 HP:0001319
5 decreased liver function 32 HP:0001410
6 retinal dystrophy 32 HP:0000556

Symptoms via clinical synopsis from OMIM:

57
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 29

Anatomical Context for Peroxisome Biogenesis Disorder 7b

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

41
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. 8 71
12851857 2003
2
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 8 71
12717447 2003
3
Genetics and molecular basis of human peroxisome biogenesis disorders. 8
22871920 2012
4
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 71
15858711 2005
5
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 71
15542397 2004
6
Zellweger Spectrum Disorder 71
20301621 2003
7
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients. 71
12402331 2002
8
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 71
9090381 1997

Variations for Peroxisome Biogenesis Disorder 7b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 7b:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PEX26 NM_017929.6(PEX26): c.292C> T (p.Arg98Trp) single nucleotide variant Pathogenic rs62641228 22:18562701-18562701 22:18079935-18079935
2 PEX26 NM_017929.6(PEX26): c.34dup (p.Leu12fs) duplication Pathogenic rs61752129 22:18561176-18561176 22:18078410-18078410
3 PEX26 NM_017929.6(PEX26): c.254dup (p.Cys86fs) duplication Pathogenic rs61752133 22:18562663-18562663 22:18079897-18079897
4 PEX26 NM_017929.6(PEX26): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs74315506 22:18561144-18561144 22:18078378-18078378
5 PEX26 NM_017929.6(PEX26): c.409G> C (p.Val137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142648687 22:18566240-18566240 22:18083474-18083474
6 PEX26 NM_017929.6(PEX26): c.200A> G (p.Asn67Ser) single nucleotide variant Uncertain significance rs201884779 22:18561342-18561342 22:18078576-18078576
7 PEX26 NM_017929.6(PEX26): c.710G> A (p.Arg237His) single nucleotide variant Uncertain significance 22:18567920-18567920 22:18085154-18085154
8 PEX26 NM_017929.6(PEX26): c.134T> C (p.Leu45Pro) single nucleotide variant Uncertain significance rs61752132 22:18561276-18561276 22:18078510-18078510
9 PEX26 NM_017929.6(PEX26): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs150451390 22:18566402-18566402 22:18083636-18083636
10 PEX26 NM_017929.6(PEX26): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs17851387 22:18570834-18570834 22:18088068-18088068

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

74
# 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

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