PBD9B
MCID: PRX050
MIFTS: 32

Peroxisome Biogenesis Disorder 9b (PBD9B)

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 9b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 9b:

Name: Peroxisome Biogenesis Disorder 9b 57 72 29 13 6
Refsum Disease, Adult, 2 57 29 70
Pbd9b 57 72
Peroxisome Biogenesis Disorder, Complementation Group 11 70
Peroxisome Biogenesis Disorder Complementation Group 11 72
Peroxisome Biogenesis Disorder, Pex7-Related, Atypical 57
Peroxisome Biogenesis Disorder Complementation Group R 72
Atypical Peroxisome Biogenesis Disorder Pex7-Related 72
Peroxisome Biogenesis Disorder, Type 9b 39
Refsum Disease Adult 2 72
Pbd-Cg11 72
Pbd-Cgr 72
Cg11 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable age of onset (range 7-24 years)
dietary restriction of phytanic acid intake can stabilize hearing and vision loss


HPO:

31
peroxisome biogenesis disorder 9b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 9b

UniProtKB/Swiss-Prot : 72 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 peroxisome biogenesis disorder 14b and rhizomelic chondrodysplasia punctata, type 1. An important gene associated with Peroxisome Biogenesis Disorder 9b is PEX7 (Peroxisomal Biogenesis Factor 7). Related phenotypes are cardiomyopathy and intellectual disability

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) (Updated 05-Apr-2021)

Related Diseases for Peroxisome Biogenesis Disorder 9b

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 9b:



Diseases related to Peroxisome Biogenesis Disorder 9b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 9b

Human phenotypes related to Peroxisome Biogenesis Disorder 9b:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 very rare (1%) HP:0001638
2 intellectual disability 31 HP:0001249
3 ataxia 31 HP:0001251
4 muscle weakness 31 HP:0001324
5 cataract 31 HP:0000518
6 sensorineural hearing impairment 31 HP:0000407
7 ichthyosis 31 HP:0008064
8 anosmia 31 HP:0000458
9 pes cavus 31 HP:0001761
10 rod-cone dystrophy 31 HP:0000510
11 polyneuropathy 31 HP:0001271
12 elevated levels of phytanic acid 31 HP:0010571

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
ataxia

Skin Nails Hair Skin:
ichthyosis

Skeletal Feet:
pes cavus
short 5th metatarsals (in some patients)

Cardiovascular Heart:
cardiomyopathy (in some patients)

Head And Neck Ears:
neurogenic hearing loss (in some patients)

Laboratory Abnormalities:
pbd complementation group 11
pbd complementation group r
elevated plasma phytanic acid levels

Muscle Soft Tissue:
muscle weakness

Head And Neck Nose:
anosmia

Head And Neck Eyes:
cataract (in some patients)
retinitis pigmentosa

Neurologic Peripheral Nervous System:
nerve hypertrophy
sensorimotor polyneuropathy

Skeletal Hands:
short 5th metacarpals (in some patients)

Clinical features from OMIM®:

614879 (Updated 05-Apr-2021)

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

Articles related to Peroxisome Biogenesis Disorder 9b:

(show all 24)
# Title Authors PMID Year
1
Phenotype of adult Refsum disease due to a defect in peroxin 7. 6 57
17325280 2007
2
Identification of PEX7 as the second gene involved in Refsum disease. 6 57
12522768 2003
3
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. 57 6
12325024 2002
4
Congenital heart defects common in rhizomelic chondrodysplasia punctata. 6
26408048 2016
5
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. 6
25800479 2015
6
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. 6
26587300 2015
7
Rhizomelic chondrodysplasia punctata and cardiac pathology. 6
23572185 2013
8
Using whole-exome sequencing to identify inherited causes of autism. 57
23352163 2013
9
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. 6
21990100 2012
10
In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor. 6
22008564 2011
11
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. 6
11781871 2002
12
Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells. 6
11756410 2002
13
Rhizomelic Chondrodysplasia Punctata Type 1 6
20301447 2001
14
Identification of genetic heterogeneity in Refsum's disease. 57
10951529 2000
15
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. 6
10083738 1999
16
A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris. 6
9472033 1998
17
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. 6
9090381 1997
18
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. 6
9090383 1997
19
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. 6
9090382 1997
20
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. 57
8882397 1996
21
Major hyperpipecolataemia in a normal adult. 57
8892018 1996
22
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. 57
7541833 1995
23
Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. 57
4159604 1966
24
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. 61
33586206 2021

Variations for Peroxisome Biogenesis Disorder 9b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 9b:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX7 NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) Microsatellite Pathogenic 370629 rs62636519 GRCh37: 6:137143807-137143808
GRCh38: 6:136822669-136822670
2 PEX7 NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) SNV Pathogenic 7790 rs61753233 GRCh37: 6:137143843-137143843
GRCh38: 6:136822705-136822705
3 PEX7 NM_000288.4(PEX7):c.45_52dup (p.His18fs) Duplication Pathogenic 7784 rs63535662 GRCh37: 6:137143840-137143841
GRCh38: 6:136822702-136822703
4 PEX7 NM_000288.4(PEX7):c.130+1G>A SNV Pathogenic 639671 rs267608253 GRCh37: 6:137143934-137143934
GRCh38: 6:136822796-136822796
5 PEX7 NM_000288.4(PEX7):c.429del (p.Val144fs) Deletion Pathogenic 554785 rs61753248 GRCh37: 6:137167222-137167222
GRCh38: 6:136846084-136846084
6 PEX7 NM_000288.4(PEX7):c.183del (p.Phe61fs) Deletion Pathogenic 225436 rs774131564 GRCh37: 6:137146400-137146400
GRCh38: 6:136825262-136825262
7 PEX7 NM_000288.4(PEX7):c.49_70dup (p.Phe24fs) Duplication Pathogenic 846733 GRCh37: 6:137143851-137143852
GRCh38: 6:136822713-136822714
8 PEX7 NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) SNV Pathogenic 813366 rs764924345 GRCh37: 6:137187830-137187830
GRCh38: 6:136866692-136866692
9 PEX7 NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) SNV Pathogenic 7786 rs121909154 GRCh37: 6:137166758-137166758
GRCh38: 6:136845620-136845620
10 PEX7 NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) SNV Pathogenic 7788 rs61753238 GRCh37: 6:137143923-137143923
GRCh38: 6:136822785-136822785
11 PEX7 NM_000288.4(PEX7):c.653C>T (p.Ala218Val) SNV Pathogenic 7781 rs121909151 GRCh37: 6:137191047-137191047
GRCh38: 6:136869909-136869909
12 PEX7 NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) SNV Pathogenic 7788 rs61753238 GRCh37: 6:137143923-137143923
GRCh38: 6:136822785-136822785
13 PEX7 NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) SNV Pathogenic 7783 rs121909153 GRCh37: 6:137191088-137191088
GRCh38: 6:136869950-136869950
14 PEX7 NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) SNV Pathogenic 7782 rs121909152 GRCh37: 6:137191043-137191043
GRCh38: 6:136869905-136869905
15 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
16 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
17 PEX7 NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) SNV Pathogenic 7780 rs1805137 GRCh37: 6:137219351-137219351
GRCh38: 6:136898213-136898213
18 PEX7 NM_000288.4(PEX7):c.340-10A>G SNV Pathogenic 7787 rs267608255 GRCh37: 6:137166743-137166743
GRCh38: 6:136845605-136845605
19 PEX7 NM_000288.4(PEX7):c.903+1G>C SNV Pathogenic 7785 rs148591292 GRCh37: 6:137219380-137219380
GRCh38: 6:136898242-136898242
20 PEX7 NM_000288.4(PEX7):c.188+1G>C SNV Pathogenic/Likely pathogenic 188975 rs267608254 GRCh37: 6:137146410-137146410
GRCh38: 6:136825272-136825272
21 PEX7 NM_000288.4(PEX7):c.418-1G>C SNV Likely pathogenic 843768 GRCh37: 6:137167210-137167210
GRCh38: 6:136846072-136846072
22 PEX7 NM_000288.4(PEX7):c.183del (p.Phe61fs) Deletion Likely pathogenic 225436 rs774131564 GRCh37: 6:137146400-137146400
GRCh38: 6:136825262-136825262
23 PEX7 NM_000288.4(PEX7):c.736_747+17del Deletion Likely pathogenic 371420 rs1057517257 GRCh37: 6:137191128-137191156
GRCh38: 6:136869990-136870018
24 PEX7 NM_000288.4(PEX7):c.363_526+230del Deletion Likely pathogenic 659636 rs1582744649 GRCh37: 6:137166776-137167549
GRCh38: 6:136845638-136846411
25 PEX7 NM_000288.4(PEX7):c.94C>T (p.Leu32=) SNV Conflicting interpretations of pathogenicity 355526 rs886061118 GRCh37: 6:137143897-137143897
GRCh38: 6:136822759-136822759
26 PEX7 NM_000288.4(PEX7):c.615C>T (p.Asp205=) SNV Conflicting interpretations of pathogenicity 355532 rs147298444 GRCh37: 6:137187853-137187853
GRCh38: 6:136866715-136866715
27 PEX7 NM_000288.4(PEX7):c.903+8A>G SNV Conflicting interpretations of pathogenicity 795513 rs779919482 GRCh37: 6:137219387-137219387
GRCh38: 6:136898249-136898249
28 PEX7 NM_000288.4(PEX7):c.418-4G>T SNV Conflicting interpretations of pathogenicity 355531 rs199552223 GRCh37: 6:137167207-137167207
GRCh38: 6:136846069-136846069
29 PEX7 NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) SNV Uncertain significance 1028672 GRCh37: 6:137147558-137147558
GRCh38: 6:136826420-136826420
30 PEX7 NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) SNV Uncertain significance 1038000 GRCh37: 6:137191095-137191095
GRCh38: 6:136869957-136869957
31 PEX7 NM_000288.4(PEX7):c.418-3T>C SNV Uncertain significance 1039835 GRCh37: 6:137167208-137167208
GRCh38: 6:136846070-136846070
32 PEX7 NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) SNV Uncertain significance 1041978 GRCh37: 6:137147461-137147461
GRCh38: 6:136826323-136826323
33 PEX7 NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) SNV Uncertain significance 1042208 GRCh37: 6:137187867-137187867
GRCh38: 6:136866729-136866729
34 PEX7 NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) SNV Uncertain significance 1043826 GRCh37: 6:137234609-137234609
GRCh38: 6:136913471-136913471
35 PEX7 NM_000288.4(PEX7):c.188+3A>G SNV Uncertain significance 355529 rs200234391 GRCh37: 6:137146412-137146412
GRCh38: 6:136825274-136825274
36 PEX7 NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) SNV Uncertain significance 500853 rs191969418 GRCh37: 6:137191089-137191089
GRCh38: 6:136869951-136869951
37 PEX7 NM_000288.4(PEX7):c.346_348del (p.Ser116del) Deletion Uncertain significance 1004762 GRCh37: 6:137166758-137166760
GRCh38: 6:136845620-136845622
38 PEX7 NM_000288.4(PEX7):c.46G>C (p.Gly16Arg) SNV Uncertain significance 1006354 GRCh37: 6:137143849-137143849
GRCh38: 6:136822711-136822711
39 PEX7 NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) SNV Uncertain significance 1006538 GRCh37: 6:137147564-137147564
GRCh38: 6:136826426-136826426
40 PEX7 NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) SNV Uncertain significance 1008460 GRCh37: 6:137143924-137143924
GRCh38: 6:136822786-136822786
41 PEX7 NM_000288.4(PEX7):c.129G>C (p.Ala43=) SNV Uncertain significance 1010243 GRCh37: 6:137143932-137143932
GRCh38: 6:136822794-136822794
42 PEX7 NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) SNV Uncertain significance 498141 rs757852291 GRCh37: 6:137143889-137143889
GRCh38: 6:136822751-136822751
43 PEX7 NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) SNV Uncertain significance 498141 rs757852291 GRCh37: 6:137143889-137143889
GRCh38: 6:136822751-136822751
44 PEX7 NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) SNV Uncertain significance 1013638 GRCh37: 6:137219308-137219308
GRCh38: 6:136898170-136898170
45 PEX7 NM_000288.4(PEX7):c.115C>A (p.His39Asn) SNV Uncertain significance 1013882 GRCh37: 6:137143918-137143918
GRCh38: 6:136822780-136822780
46 PEX7 NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) SNV Uncertain significance 1021985 GRCh37: 6:137234662-137234662
GRCh38: 6:136913524-136913524
47 PEX7 NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) SNV Uncertain significance 1024459 GRCh37: 6:137147599-137147599
GRCh38: 6:136826461-136826461
48 PEX7 NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) SNV Uncertain significance 1025183 GRCh37: 6:137166826-137166826
GRCh38: 6:136845688-136845688
49 PEX7 NM_000288.4(PEX7):c.116A>G (p.His39Arg) SNV Uncertain significance 942407 GRCh37: 6:137143919-137143919
GRCh38: 6:136822781-136822781
50 PEX7 NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) SNV Uncertain significance 961645 GRCh37: 6:137166786-137166786
GRCh38: 6:136845648-136845648

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

72
# Symbol AA change Variation ID SNP ID
1 PEX7 p.Thr14Pro VAR_016810 rs61753233

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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61 PubMed
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