PBD6B
MCID: PRX043
MIFTS: 31

Peroxisome Biogenesis Disorder 6b (PBD6B)

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 6b

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 6b:

Name: Peroxisome Biogenesis Disorder 6b 57 72 29 13 6 70
Pbd6b 57 72
Peroxisome Biogenesis Disorder, Type 6b 39

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
slowly progressive
onset in infancy or early childhood
mild disorder
four unrelated patients have been reported (last curated january 2015)


HPO:

31
peroxisome biogenesis disorder 6b:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:



Summaries for Peroxisome Biogenesis Disorder 6b

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. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (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 PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100. (614871) (Updated 05-Apr-2021)

MalaCards based summary : Peroxisome Biogenesis Disorder 6b, also known as pbd6b, is related to peroxisome biogenesis disorder 6a and zellweger spectrum disorder, and has symptoms including cerebellar ataxia An important gene associated with Peroxisome Biogenesis Disorder 6b is PEX10 (Peroxisomal Biogenesis Factor 10). Affiliated tissues include liver, and related phenotypes are pes cavus and hyporeflexia

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 6B: 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.

Related Diseases for Peroxisome Biogenesis Disorder 6b

Graphical network of the top 20 diseases related to Peroxisome Biogenesis Disorder 6b:



Diseases related to Peroxisome Biogenesis Disorder 6b

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 6b

Human phenotypes related to Peroxisome Biogenesis Disorder 6b:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 pes cavus 31 occasional (7.5%) HP:0001761
2 hyporeflexia 31 occasional (7.5%) HP:0001265
3 abnormality of the cerebral white matter 31 occasional (7.5%) HP:0002500
4 generalized hypotonia 31 occasional (7.5%) HP:0001290
5 intention tremor 31 occasional (7.5%) HP:0002080
6 distal sensory impairment 31 occasional (7.5%) HP:0002936
7 distal amyotrophy 31 occasional (7.5%) HP:0003693
8 nystagmus 31 HP:0000639
9 ataxia 31 HP:0001251
10 dysarthria 31 HP:0001260
11 global developmental delay 31 HP:0001263
12 sensorineural hearing impairment 31 HP:0000407
13 visual impairment 31 HP:0000505
14 neonatal hypotonia 31 HP:0001319
15 cerebellar atrophy 31 HP:0001272
16 retinal dystrophy 31 HP:0000556
17 decreased liver function 31 HP:0001410
18 impaired smooth pursuit 31 HP:0007772
19 dysmetric saccades 31 HP:0000641

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
impaired smooth pursuit
dysmetric saccades

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
hyporeflexia (in some patients)
axonal motor neuropathy (in some patients)

Laboratory Abnormalities:
increased bile acid intermediates (dhca and thca)
increased plasma branched-chain fatty acids
increased plasma pristanic acid
increased plasma phytanic acid
increased plasma pipecolic acid

Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
cerebellar ataxia
white matter abnormalities (1 patient)
intention tremor (1 patient)

Skeletal Feet:
pes cavus (1 patient)

Muscle Soft Tissue:
distal muscle atrophy (1 patient)
hypotonia, mild (1 patient)

Clinical features from OMIM®:

614871 (Updated 05-Apr-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 6b:


cerebellar ataxia

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 6b

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 6b

Genetic Tests for Peroxisome Biogenesis Disorder 6b

Genetic tests related to Peroxisome Biogenesis Disorder 6b:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 6b 29 PEX10

Anatomical Context for Peroxisome Biogenesis Disorder 6b

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 6b:

40
Liver

Publications for Peroxisome Biogenesis Disorder 6b

Articles related to Peroxisome Biogenesis Disorder 6b:

(show all 16)
# Title Authors PMID Year
1
Mutations in PEX10 are a cause of autosomal recessive ataxia. 6 57
20695019 2010
2
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 57 6
19127411 2009
3
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 6 57
9683594 1998
4
Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation. 57 6
8982949 1996
5
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
6
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 6
25179809 2014
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 57
22871920 2012
8
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 6
21465523 2011
9
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
10
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 6
17702006 2007
11
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6
17041890 2006
12
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
13
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 6
12794690 2003
14
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 6
10862081 2000
15
Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome. 6
7565793 1995
16
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 61
30640048 2019

Variations for Peroxisome Biogenesis Disorder 6b

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 6b:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX10 NM_002617.3(PEX10):c.870C>G (p.His290Gln) SNV Pathogenic 6771 rs61752095 GRCh37: 1:2337965-2337965
GRCh38: 1:2406526-2406526
2 PEX10 NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) SNV Pathogenic 6772 rs61750434 GRCh37: 1:2340118-2340118
GRCh38: 1:2408679-2408679
3 PEX10 NM_002617.3(PEX10):c.337del (p.Leu113fs) Deletion Pathogenic 162431 rs724159999 GRCh37: 1:2340154-2340154
GRCh38: 1:2408715-2408715
4 PEX10 NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) SNV Pathogenic 162432 rs724160000 GRCh37: 1:2338005-2338005
GRCh38: 1:2406566-2406566
5 PEX10 , PLCH2 NM_153818.1(PEX10):c.2T>C (p.Met1Thr) SNV Pathogenic 162434 rs724160002 GRCh37: 1:2343940-2343940
GRCh38: 1:2412501-2412501
6 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
7 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
8 PEX10 , PLCH2 NM_153818.1(PEX10):c.2T>C (p.Met1Thr) SNV Pathogenic 162434 rs724160002 GRCh37: 1:2343940-2343940
GRCh38: 1:2412501-2412501
9 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
10 PEX10 NM_153818.1(PEX10):c.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
11 PEX10 NM_153818.1(PEX10):c.600+1G>A SNV Pathogenic 6770 rs267608183 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
12 PEX10 NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) SNV Pathogenic 162433 rs724160001 GRCh37: 1:2337254-2337254
GRCh38: 1:2405815-2405815
13 PEX10 , PLCH2 NM_002617.3(PEX10):c.4del (p.Ala2fs) Deletion Likely pathogenic 449304 rs62636524 GRCh37: 1:2343938-2343938
GRCh38: 1:2412499-2412499
14 PEX10 , PLCH2 NM_153818.1(PEX10):c.1A>G (p.Met1Val) SNV Likely pathogenic 280002 rs886041314 GRCh37: 1:2343941-2343941
GRCh38: 1:2412502-2412502
15 PEX10 NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) SNV Likely pathogenic 371748 rs369965266 GRCh37: 1:2340139-2340139
GRCh38: 1:2408700-2408700
16 PEX10 NM_153818.1(PEX10):c.623_624del (p.Leu208fs) Deletion Likely pathogenic 556606 rs1553231896 GRCh37: 1:2338371-2338372
GRCh38: 1:2406932-2406933
17 PEX10 NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) SNV Likely pathogenic 553702 rs769251149 GRCh37: 1:2338045-2338045
GRCh38: 1:2406606-2406606
18 PEX10 NM_002617.3(PEX10):c.26del (p.Pro9fs) Deletion Likely pathogenic 555863 rs1553232917 GRCh37: 1:2343916-2343916
GRCh38: 1:2412477-2412477
19 PEX10 NM_002617.3(PEX10):c.601-24_601-23del Deletion Likely pathogenic 551969 rs1553231875 GRCh37: 1:2338357-2338358
GRCh38: 1:2406918-2406919
20 PEX10 NM_002617.3(PEX10):c.601-26_601-25delinsCTC Indel Likely pathogenic 550051 rs1553231888 GRCh37: 1:2338359-2338360
GRCh38: 1:2406920-2406921
21 PEX10 NM_002617.3(PEX10):c.755_756del (p.His252fs) Deletion Likely pathogenic 550383 rs1325771720 GRCh37: 1:2338179-2338180
GRCh38: 1:2406740-2406741
22 PEX10 NM_153818.1(PEX10):c.113-1G>A SNV Likely pathogenic 553007 rs867305222 GRCh37: 1:2341891-2341891
GRCh38: 1:2410452-2410452
23 PEX10 NM_002617.3(PEX10):c.791_792AG[2] (p.Arg265fs) Microsatellite Likely pathogenic 553074 rs1553231787 GRCh37: 1:2338039-2338040
GRCh38: 1:2406600-2406601
24 PEX10 NM_002617.3(PEX10):c.600+1del Deletion Likely pathogenic 553280 rs1553232077 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
25 PEX10 NM_153818.1(PEX10):c.836+2T>A SNV Likely pathogenic 553321 rs1335685844 GRCh37: 1:2338157-2338157
GRCh38: 1:2406718-2406718
26 PEX10 NM_153818.1(PEX10):c.972+1G>C SNV Likely pathogenic 554342 rs1553231739 GRCh37: 1:2337922-2337922
GRCh38: 1:2406483-2406483
27 PEX10 NM_002617.3(PEX10):c.761del (p.Gly254fs) Deletion Likely pathogenic 554630 rs1553231820 GRCh37: 1:2338174-2338174
GRCh38: 1:2406735-2406735
28 PEX10 , PLCH2 NM_002617.3(PEX10):c.20del (p.Ser7fs) Deletion Likely pathogenic 554655 rs1553232926 GRCh37: 1:2343922-2343922
GRCh38: 1:2412483-2412483
29 PEX10 NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) SNV Likely pathogenic 6772 rs61750434 GRCh37: 1:2340118-2340118
GRCh38: 1:2408679-2408679
30 PEX10 NM_153818.1(PEX10):c.836+2T>C SNV Likely pathogenic 555007 rs1335685844 GRCh37: 1:2338157-2338157
GRCh38: 1:2406718-2406718
31 PEX10 NM_002617.3(PEX10):c.815del (p.Leu272fs) Deletion Likely pathogenic 555297 rs1553231783 GRCh37: 1:2338020-2338020
GRCh38: 1:2406581-2406581
32 PEX10 NM_153818.1(PEX10):c.972+1G>A SNV Likely pathogenic 557020 rs1553231739 GRCh37: 1:2337922-2337922
GRCh38: 1:2406483-2406483
33 PEX10 NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) Deletion Likely pathogenic 557464 rs768893724 GRCh37: 1:2338232-2338243
GRCh38: 1:2406793-2406804
34 PEX10 NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) SNV Uncertain significance 557602 rs1291325133 GRCh37: 1:2340280-2340280
GRCh38: 1:2408841-2408841
35 PEX10 NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) SNV Uncertain significance 558445 rs1414973726 GRCh37: 1:2338008-2338008
GRCh38: 1:2406569-2406569
36 PEX10 NM_002617.3(PEX10):c.855_857dup (p.Thr286dup) Duplication Uncertain significance 558664 rs1553231765 GRCh37: 1:2337977-2337978
GRCh38: 1:2406538-2406539
37 PEX10 NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) SNV Uncertain significance 162432 rs724160000 GRCh37: 1:2338005-2338005
GRCh38: 1:2406566-2406566
38 PEX10 NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) SNV Uncertain significance 197385 rs61736380 GRCh37: 1:2338223-2338223
GRCh38: 1:2406784-2406784
39 PEX10 NM_002617.4(PEX10):c.98T>G (p.Leu33Arg) SNV Uncertain significance 870567 GRCh37: 1:2343844-2343844
GRCh38: 1:2412405-2412405
40 PEX10 NM_153818.1(PEX10):c.973-2A>C SNV Uncertain significance 555812 rs758250423 GRCh37: 1:2337275-2337275
GRCh38: 1:2405836-2405836
41 PEX10 NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) SNV Uncertain significance 296275 rs761942658 GRCh37: 1:2338175-2338175
GRCh38: 1:2406736-2406736
42 PEX10 NM_153818.1(PEX10):c.1037G>A (p.Arg346His) SNV Uncertain significance 296272 rs140890506 GRCh37: 1:2337209-2337209
GRCh38: 1:2405770-2405770
43 PEX10 NM_002617.3(PEX10):c.876_878CTG[1] (p.Cys293del) Microsatellite Uncertain significance 551349 rs1438047457 GRCh37: 1:2337954-2337956
GRCh38: 1:2406515-2406517
44 PEX10 NM_153818.1(PEX10):c.1039T>C (p.Ter347Arg) SNV Uncertain significance 552841 rs779199089 GRCh37: 1:2337207-2337207
GRCh38: 1:2405768-2405768
45 PEX10 NM_153818.1(PEX10):c.928C>G (p.His310Asp) SNV Uncertain significance 552930 rs61752094 GRCh37: 1:2337967-2337967
GRCh38: 1:2406528-2406528
46 PEX10 NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) SNV Uncertain significance 555942 rs766966222 GRCh37: 1:2340258-2340258
GRCh38: 1:2408819-2408819
47 PEX10 NM_153818.1(PEX10):c.275G>A (p.Arg92His) SNV Uncertain significance 296283 rs375649043 GRCh37: 1:2340216-2340216
GRCh38: 1:2408777-2408777
48 PEX10 NM_153818.1(PEX10):c.1041A>G (p.Ter347Trp) SNV Uncertain significance 556763 rs1358135448 GRCh37: 1:2337205-2337205
GRCh38: 1:2405766-2405766
49 PEX10 NM_002617.3(PEX10):c.952_954del (p.Lys318del) Deletion Uncertain significance 556838 rs1553231582 GRCh37: 1:2337232-2337234
GRCh38: 1:2405793-2405795
50 PEX10 NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) SNV Uncertain significance 162433 rs724160001 GRCh37: 1:2337254-2337254
GRCh38: 1:2405815-2405815

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 6b:

72
# Symbol AA change Variation ID SNP ID
1 PEX10 p.His290Gln VAR_007805 rs61752095

Expression for Peroxisome Biogenesis Disorder 6b

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 6b.

Pathways for Peroxisome Biogenesis Disorder 6b

GO Terms for Peroxisome Biogenesis Disorder 6b

Sources for Peroxisome Biogenesis Disorder 6b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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