MCID: PRX050
MIFTS: 22

Peroxisome Biogenesis Disorder 9b

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Fetal diseases, Liver diseases, Eye diseases, Neuronal diseases, Endocrine diseases, Nephrological diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 9b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 9b:

Name: Peroxisome Biogenesis Disorder 9b 53 71 28 13
Refsum Disease, Adult, 2 53 28 69
Pbd9b 53 71
Peroxisome Biogenesis Disorder, Complementation Group 11 69
Peroxisome Biogenesis Disorder Complementation Group 11 71
Peroxisome Biogenesis Disorder, Pex7-Related, Atypical 53
Peroxisome Biogenesis Disorder Complementation Group R 71
Atypical Peroxisome Biogenesis Disorder Pex7-Related 71
Refsum Disease Adult 2 71
Pbd-Cg11 71
Pbd-Cgr 71
Cg11 71

Characteristics:

HPO:

31
peroxisome biogenesis disorder 9b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 9b

UniProtKB/Swiss-Prot : 71 Peroxisome biogenesis disorder 9B: A peroxisome biogenesis disorder with unusually mild clinical and biochemical manifestations. Affected individuals manifest a variable phenotype similar to, and in some cases indistinguishable from, classic Refsum disease. Variable features include ocular abnormalities, sensorimotor neuropathy, ichthyosis, deafness, chondrodysplasia punctata without rhizomelia or growth failure. Peroxisome biogenesis disorder complementation group 11: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).

MalaCards based summary : Peroxisome Biogenesis Disorder 9b, also known as refsum disease, adult, 2, is related to rhizomelic chondrodysplasia punctata, type 1 and refsum disease, classic, and has symptoms including intellectual disability, cataract and sensorineural hearing impairment. An important gene associated with Peroxisome Biogenesis Disorder 9b is PEX7 (Peroxisomal Biogenesis Factor 7).

OMIM : 53 While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1; 215100), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (266500) and patients carried this diagnosis. Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see 214100. (614879)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 9b

Clinical features from OMIM:

614879

Human phenotypes related to Peroxisome Biogenesis Disorder 9b:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cataract 31 HP:0000518
3 sensorineural hearing impairment 31 HP:0000407
4 rod-cone dystrophy 31 HP:0000510
5 elevated levels of phytanic acid 31 HP:0010571

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 9b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 9b

Genetic Tests for Peroxisome Biogenesis Disorder 9b

Genetic tests related to Peroxisome Biogenesis Disorder 9b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 9b 28 PEX7
2 Refsum Disease, Adult, 2 28

Anatomical Context for Peroxisome Biogenesis Disorder 9b

Publications for Peroxisome Biogenesis Disorder 9b

Variations for Peroxisome Biogenesis Disorder 9b

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 9b:

71
# Symbol AA change Variation ID SNP ID
1 PEX7 p.Thr14Pro VAR_016810 rs61753233

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 9b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX7 NM_000288.3(PEX7): c.875T> A (p.Leu292Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1805137 GRCh37 Chromosome 6, 137219351: 137219351
2 PEX7 NM_000288.3(PEX7): c.653C> T (p.Ala218Val) single nucleotide variant Pathogenic/Likely pathogenic rs121909151 GRCh37 Chromosome 6, 137191047: 137191047
3 PEX7 NM_000288.3(PEX7): c.649G> A (p.Gly217Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909152 GRCh37 Chromosome 6, 137191043: 137191043
4 PEX7 NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs) duplication Pathogenic rs199470486 GRCh37 Chromosome 6, 137143848: 137143855
5 PEX7 NM_000288.3(PEX7): c.903+1G> C single nucleotide variant Pathogenic rs148591292 GRCh37 Chromosome 6, 137219380: 137219380
6 PEX7 NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909154 GRCh37 Chromosome 6, 137166758: 137166758
7 PEX7 NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753238 GRCh37 Chromosome 6, 137143923: 137143923
8 PEX7 NM_000288.3(PEX7): c.40A> C (p.Thr14Pro) single nucleotide variant Pathogenic rs61753233 GRCh37 Chromosome 6, 137143843: 137143843
9 PEX7 NM_000288.3(PEX7): c.183delT (p.Phe61Leufs) deletion Likely pathogenic rs1085307085 GRCh38 Chromosome 6, 136825266: 136825266
10 PEX7 NM_000288.3(PEX7): c.13_19dupTGCGGTG (p.Gly7Valfs) duplication Pathogenic/Likely pathogenic rs62636519 GRCh38 Chromosome 6, 136822678: 136822684

Expression for Peroxisome Biogenesis Disorder 9b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 9b.

Pathways for Peroxisome Biogenesis Disorder 9b

GO Terms for Peroxisome Biogenesis Disorder 9b

Sources for Peroxisome Biogenesis Disorder 9b

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10 dbSNP
11 DGIdb
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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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