MCID: PRX050
MIFTS: 22

Peroxisome Biogenesis Disorder 9b

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

Aliases & Classifications for Peroxisome Biogenesis Disorder 9b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 9b:

Name: Peroxisome Biogenesis Disorder 9b 57 75 29 13 6
Refsum Disease, Adult, 2 57 29 73
Pbd9b 57 75
Peroxisome Biogenesis Disorder, Complementation Group 11 73
Peroxisome Biogenesis Disorder Complementation Group 11 75
Peroxisome Biogenesis Disorder, Pex7-Related, Atypical 57
Peroxisome Biogenesis Disorder Complementation Group R 75
Atypical Peroxisome Biogenesis Disorder Pex7-Related 75
Peroxisome Biogenesis Disorder, Type 9b 40
Refsum Disease Adult 2 75
Pbd-Cg11 75
Pbd-Cgr 75
Cg11 75

Characteristics:

HPO:

32
peroxisome biogenesis disorder 9b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 9b

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Peroxisome Biogenesis Disorder 9b is PEX7 (Peroxisomal Biogenesis Factor 7). Related phenotypes are sensorineural hearing impairment and rod-cone dystrophy

OMIM : 57 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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 rod-cone dystrophy 32 HP:0000510
3 cataract 32 HP:0000518
4 intellectual disability 32 HP:0001249
5 elevated levels of phytanic acid 32 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 29 PEX7
2 Refsum Disease, Adult, 2 29

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:

75
# Symbol AA change Variation ID SNP ID
1 PEX7 p.Thr14Pro VAR_016810 rs61753233

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 9b:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX7 NM_000288.3(PEX7): c.875T> A (p.Leu292Ter) single nucleotide variant Pathogenic rs1805137 GRCh37 Chromosome 6, 137219351: 137219351
2 PEX7 NM_000288.3(PEX7): c.875T> A (p.Leu292Ter) single nucleotide variant Pathogenic rs1805137 GRCh38 Chromosome 6, 136898213: 136898213
3 PEX7 NM_000288.3(PEX7): c.653C> T (p.Ala218Val) single nucleotide variant Likely pathogenic rs121909151 GRCh37 Chromosome 6, 137191047: 137191047
4 PEX7 NM_000288.3(PEX7): c.653C> T (p.Ala218Val) single nucleotide variant Likely pathogenic rs121909151 GRCh38 Chromosome 6, 136869909: 136869909
5 PEX7 NM_000288.3(PEX7): c.649G> A (p.Gly217Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909152 GRCh37 Chromosome 6, 137191043: 137191043
6 PEX7 NM_000288.3(PEX7): c.649G> A (p.Gly217Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121909152 GRCh38 Chromosome 6, 136869905: 136869905
7 PEX7 NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs) duplication Pathogenic rs199470486 GRCh37 Chromosome 6, 137143848: 137143855
8 PEX7 NM_000288.3(PEX7): c.45_52dupGGGACGCC (p.His18Argfs) duplication Pathogenic rs199470486 GRCh38 Chromosome 6, 136822710: 136822717
9 PEX7 NM_000288.3(PEX7): c.903+1G> C single nucleotide variant Pathogenic rs148591292 GRCh37 Chromosome 6, 137219380: 137219380
10 PEX7 NM_000288.3(PEX7): c.903+1G> C single nucleotide variant Pathogenic rs148591292 GRCh38 Chromosome 6, 136898242: 136898242
11 PEX7 NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter) single nucleotide variant Likely pathogenic rs121909154 GRCh37 Chromosome 6, 137166758: 137166758
12 PEX7 NM_000288.3(PEX7): c.345T> G (p.Tyr115Ter) single nucleotide variant Likely pathogenic rs121909154 GRCh38 Chromosome 6, 136845620: 136845620
13 PEX7 NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753238 GRCh37 Chromosome 6, 137143923: 137143923
14 PEX7 NM_000288.3(PEX7): c.120C> G (p.Tyr40Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61753238 GRCh38 Chromosome 6, 136822785: 136822785
15 PEX7 NM_000288.3(PEX7): c.40A> C (p.Thr14Pro) single nucleotide variant Pathogenic rs61753233 GRCh37 Chromosome 6, 137143843: 137143843
16 PEX7 NM_000288.3(PEX7): c.40A> C (p.Thr14Pro) single nucleotide variant Pathogenic rs61753233 GRCh38 Chromosome 6, 136822705: 136822705
17 PEX7 NM_000288.3(PEX7): c.74C> T (p.Ser25Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61753236 GRCh37 Chromosome 6, 137143877: 137143877
18 PEX7 NM_000288.3(PEX7): c.74C> T (p.Ser25Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs61753236 GRCh38 Chromosome 6, 136822739: 136822739
19 PEX7 NM_000288.3(PEX7): c.183delT (p.Phe61Leufs) deletion Likely pathogenic rs1085307085 GRCh38 Chromosome 6, 136825266: 136825266
20 PEX7 NM_000288.3(PEX7): c.183delT (p.Phe61Leufs) deletion Likely pathogenic rs1085307085 GRCh37 Chromosome 6, 137146404: 137146404
21 PEX7 NM_000288.3(PEX7): c.13_19dupTGCGGTG (p.Gly7Valfs) duplication Likely pathogenic rs62636519 GRCh38 Chromosome 6, 136822678: 136822684
22 PEX7 NM_000288.3(PEX7): c.13_19dupTGCGGTG (p.Gly7Valfs) duplication Likely pathogenic rs62636519 GRCh37 Chromosome 6, 137143816: 137143822

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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