PBD6A
MCID: PRX051
MIFTS: 34

Peroxisome Biogenesis Disorder 6a (PBD6A)

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 6a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 6a:

Name: Peroxisome Biogenesis Disorder 6a 57 12 72 29 13 6 70
Peroxisome Biogenesis Disorder, Complementation Group 7 6 17
Pbd6a 57 72
Peroxisome Biogenesis Disorder Complementation Group 7 72
Peroxisome Biogenesis Disorder Complementation Group B 72
Peroxisome Biogenesis Disorder, Type 6a 39
Pbd-Cgb 72
Pbd-Cg7 72
Cg7 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
rapidly progressive
death in neonatal period or early infancy
based on detailed clinical information for 2 patients

Inheritance:
autosomal recessive


HPO:

31
peroxisome biogenesis disorder 6a:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080481
OMIM® 57 614870
OMIM Phenotypic Series 57 PS214100
UMLS 70 C3553947

Summaries for Peroxisome Biogenesis Disorder 6a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 6A: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Peroxisome biogenesis disorder complementation group 7: 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 6a, also known as peroxisome biogenesis disorder, complementation group 7, is related to peroxisome biogenesis disorder 6b and zellweger spectrum disorder. An important gene associated with Peroxisome Biogenesis Disorder 6a is PEX10 (Peroxisomal Biogenesis Factor 10). Affiliated tissues include eye and liver, and related phenotypes are hepatomegaly and wide nasal bridge

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.

OMIM® : 57 Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100. (614870) (Updated 20-May-2021)

Related Diseases for Peroxisome Biogenesis Disorder 6a

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



Diseases related to Peroxisome Biogenesis Disorder 6a

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 6a

Human phenotypes related to Peroxisome Biogenesis Disorder 6a:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 wide nasal bridge 31 HP:0000431
3 feeding difficulties in infancy 31 HP:0008872
4 epiphyseal stippling 31 HP:0010655
5 low-set ears 31 HP:0000369
6 severe global developmental delay 31 HP:0011344
7 pachygyria 31 HP:0001302
8 colpocephaly 31 HP:0030048
9 generalized neonatal hypotonia 31 HP:0008935
10 renal cyst 31 HP:0000107
11 generalized hypotonia 31 HP:0001290
12 decreased liver function 31 HP:0001410
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
colpocephaly
hypotonia
weak neonatal reflexes
pachygyria in the perisylvian regions

Head And Neck Ears:
low-set ears
external ear deformity

Genitourinary Kidneys:
renal cysts

Skeletal Feet:
sickle foot

Abdomen Liver:
hepatomegaly
liver dysfunction

Head And Neck Nose:
broad nasal bridge

Head And Neck Head:
enlarged anterior fontanel

Laboratory Abnormalities:
no peroxisomes visualized in cultured fibroblasts
zellweger complementation group 7

Clinical features from OMIM®:

614870 (Updated 20-May-2021)

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 6a

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

Genetic Tests for Peroxisome Biogenesis Disorder 6a

Genetic tests related to Peroxisome Biogenesis Disorder 6a:

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

Anatomical Context for Peroxisome Biogenesis Disorder 6a

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

40
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 6a

Articles related to Peroxisome Biogenesis Disorder 6a:

(show all 20)
# Title Authors PMID Year
1
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 6 57
17041890 2006
2
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 57 6
10862081 2000
3
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 57 6
9700193 1998
4
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 6 57
9683594 1998
5
Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 6
30640048 2019
6
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 6
27230853 2016
7
Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 6
26319495 2015
8
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
9
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders. 6
25179809 2014
10
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 6
21031596 2011
11
Mutations in PEX10 are a cause of autosomal recessive ataxia. 6
20695019 2010
12
Rational diagnostic strategy for Zellweger syndrome spectrum patients. 6
19142205 2009
13
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 6
19105186 2009
14
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. 6
19127411 2009
15
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 6
17702006 2007
16
Peroxisome biogenesis disorders. 57
17055079 2006
17
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 6
15542397 2004
18
Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 6
12794690 2003
19
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
20
MRI findings of Zellweger syndrome. 57
8771174 1995

Variations for Peroxisome Biogenesis Disorder 6a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 6a:

6 (show top 50) (show all 230)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX10 PEX10, 2-BP DEL, 814CT Deletion Pathogenic 6773 GRCh37:
GRCh38:
2 PEX10 PEX10, DEL/INS/FS, NT13 Indel Pathogenic 6775 GRCh37:
GRCh38:
3 PEX10 NC_000001.11:g.(?_2405756)_(2412512_?)del Deletion Pathogenic 830835 GRCh37: 1:2337195-2343951
GRCh38:
4 PEX10 NC_000001.11:g.(?_2405746)_(2412522_?)del Deletion Pathogenic 832324 GRCh37: 1:2337185-2343961
GRCh38:
5 PEX10 NM_002617.3(PEX10):c.338del (p.Leu113fs) Deletion Pathogenic 235465 rs878853044 GRCh37: 1:2340153-2340153
GRCh38: 1:2408714-2408714
6 PEX10 NM_002617.4(PEX10):c.601-3C>T SNV Pathogenic 967267 GRCh37: 1:2338337-2338337
GRCh38: 1:2406898-2406898
7 PEX10 NM_002617.4(PEX10):c.28dup (p.Glu10fs) Duplication Pathogenic 940956 GRCh37: 1:2343913-2343914
GRCh38: 1:2412474-2412475
8 PEX10 NM_002617.4(PEX10):c.664dup (p.Val222fs) Duplication Pathogenic 950664 GRCh37: 1:2338270-2338271
GRCh38: 1:2406831-2406832
9 PEX10 NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer) Insertion Pathogenic 951635 GRCh37: 1:2340199-2340200
GRCh38: 1:2408760-2408761
10 PEX10 NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) SNV Pathogenic 1033175 GRCh37: 1:2340272-2340272
GRCh38: 1:2408833-2408833
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.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
13 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
14 PEX10 NM_153818.1(PEX10):c.764dup (p.Leu256fs) Duplication Pathogenic 6774 rs61750435 GRCh37: 1:2338230-2338231
GRCh38: 1:2406791-2406792
15 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
16 PEX10 , PLCH2 NM_153818.1(PEX10):c.2T>C (p.Met1Thr) SNV Pathogenic 162434 rs724160002 GRCh37: 1:2343940-2343940
GRCh38: 1:2412501-2412501
17 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
18 PEX10 NM_002617.4(PEX10):c.814_815del (p.Leu272fs) Deletion Pathogenic 296273 rs61752093 GRCh37: 1:2338020-2338021
GRCh38: 1:2406581-2406582
19 PEX10 NM_153818.1(PEX10):c.600+1G>A SNV Pathogenic 6770 rs267608183 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
20 PEX10 NM_153818.1(PEX10):c.623_624del (p.Leu208fs) Deletion Pathogenic 556606 rs1553231896 GRCh37: 1:2338371-2338372
GRCh38: 1:2406932-2406933
21 PEX10 NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) Deletion Pathogenic 557464 rs768893724 GRCh37: 1:2338232-2338243
GRCh38: 1:2406793-2406804
22 PEX10 NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) SNV Pathogenic 6772 rs61750434 GRCh37: 1:2340118-2340118
GRCh38: 1:2408679-2408679
23 PEX10 NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) SNV Pathogenic 162435 rs61752092 GRCh37: 1:2338205-2338205
GRCh38: 1:2406766-2406766
24 PEX10 NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) SNV Likely pathogenic 162432 rs724160000 GRCh37: 1:2338005-2338005
GRCh38: 1:2406566-2406566
25 PEX10 NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) SNV Likely pathogenic 162433 rs724160001 GRCh37: 1:2337254-2337254
GRCh38: 1:2405815-2405815
26 PEX10 NM_153818.1(PEX10):c.623_624del (p.Leu208fs) Deletion Likely pathogenic 556606 rs1553231896 GRCh37: 1:2338371-2338372
GRCh38: 1:2406932-2406933
27 PEX10 , PLCH2 NM_153818.1(PEX10):c.1A>G (p.Met1Val) SNV Likely pathogenic 280002 rs886041314 GRCh37: 1:2343941-2343941
GRCh38: 1:2412502-2412502
28 PEX10 NM_002617.3(PEX10):c.601-24_601-23del Deletion Likely pathogenic 551969 rs1553231875 GRCh37: 1:2338357-2338358
GRCh38: 1:2406918-2406919
29 PEX10 NM_002617.3(PEX10):c.601-26_601-25delinsCTC Indel Likely pathogenic 550051 rs1553231888 GRCh37: 1:2338359-2338360
GRCh38: 1:2406920-2406921
30 PEX10 NM_002617.3(PEX10):c.755_756del (p.His252fs) Deletion Likely pathogenic 550383 rs1325771720 GRCh37: 1:2338179-2338180
GRCh38: 1:2406740-2406741
31 PEX10 NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) SNV Likely pathogenic 371748 rs369965266 GRCh37: 1:2340139-2340139
GRCh38: 1:2408700-2408700
32 PEX10 NM_153818.1(PEX10):c.113-1G>A SNV Likely pathogenic 553007 rs867305222 GRCh37: 1:2341891-2341891
GRCh38: 1:2410452-2410452
33 PEX10 NM_002617.3(PEX10):c.791_792AG[2] (p.Arg265fs) Microsatellite Likely pathogenic 553074 rs1553231787 GRCh37: 1:2338039-2338040
GRCh38: 1:2406600-2406601
34 PEX10 NM_002617.3(PEX10):c.600+1del Deletion Likely pathogenic 553280 rs1553232077 GRCh37: 1:2339890-2339890
GRCh38: 1:2408451-2408451
35 PEX10 NM_153818.1(PEX10):c.836+2T>A SNV Likely pathogenic 553321 rs1335685844 GRCh37: 1:2338157-2338157
GRCh38: 1:2406718-2406718
36 PEX10 NM_153818.1(PEX10):c.972+1G>C SNV Likely pathogenic 554342 rs1553231739 GRCh37: 1:2337922-2337922
GRCh38: 1:2406483-2406483
37 PEX10 NM_002617.3(PEX10):c.761del (p.Gly254fs) Deletion Likely pathogenic 554630 rs1553231820 GRCh37: 1:2338174-2338174
GRCh38: 1:2406735-2406735
38 PEX10 , PLCH2 NM_002617.3(PEX10):c.20del (p.Ser7fs) Deletion Likely pathogenic 554655 rs1553232926 GRCh37: 1:2343922-2343922
GRCh38: 1:2412483-2412483
39 PEX10 NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) SNV Likely pathogenic 6772 rs61750434 GRCh37: 1:2340118-2340118
GRCh38: 1:2408679-2408679
40 PEX10 NM_153818.1(PEX10):c.836+2T>C SNV Likely pathogenic 555007 rs1335685844 GRCh37: 1:2338157-2338157
GRCh38: 1:2406718-2406718
41 PEX10 NM_002617.3(PEX10):c.815del (p.Leu272fs) Deletion Likely pathogenic 555297 rs1553231783 GRCh37: 1:2338020-2338020
GRCh38: 1:2406581-2406581
42 PEX10 NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) SNV Likely pathogenic 553702 rs769251149 GRCh37: 1:2338045-2338045
GRCh38: 1:2406606-2406606
43 PEX10 NM_002617.3(PEX10):c.26del (p.Pro9fs) Deletion Likely pathogenic 555863 rs1553232917 GRCh37: 1:2343916-2343916
GRCh38: 1:2412477-2412477
44 PEX10 NM_153818.1(PEX10):c.972+1G>A SNV Likely pathogenic 557020 rs1553231739 GRCh37: 1:2337922-2337922
GRCh38: 1:2406483-2406483
45 PEX10 NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) Deletion Likely pathogenic 557464 rs768893724 GRCh37: 1:2338232-2338243
GRCh38: 1:2406793-2406804
46 PEX10 NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) SNV Uncertain significance 557602 rs1291325133 GRCh37: 1:2340280-2340280
GRCh38: 1:2408841-2408841
47 PEX10 NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) SNV Uncertain significance 558445 rs1414973726 GRCh37: 1:2338008-2338008
GRCh38: 1:2406569-2406569
48 PEX10 NM_002617.3(PEX10):c.855_857dup (p.Thr286dup) Duplication Uncertain significance 558664 rs1553231765 GRCh37: 1:2337977-2337978
GRCh38: 1:2406538-2406539
49 PEX10 NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) SNV Uncertain significance 162432 rs724160000 GRCh37: 1:2338005-2338005
GRCh38: 1:2406566-2406566
50 PEX10 NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) SNV Uncertain significance 555942 rs766966222 GRCh37: 1:2340258-2340258
GRCh38: 1:2408819-2408819

Expression for Peroxisome Biogenesis Disorder 6a

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

Pathways for Peroxisome Biogenesis Disorder 6a

GO Terms for Peroxisome Biogenesis Disorder 6a

Sources for Peroxisome Biogenesis Disorder 6a

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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