PBD7A
MCID: PRX046
MIFTS: 30

Peroxisome Biogenesis Disorder 7a (PBD7A)

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 7a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 7a:

Name: Peroxisome Biogenesis Disorder 7a 57 12 72 29 13 6 70
Pbd7a 57 72
Peroxisome Biogenesis Disorder Complementation Group 8 72
Peroxisome Biogenesis Disorder Complementation Group a 72
Peroxisome Biogenesis Disorder, Type 7a 39
Pbd-Cga 72
Pbd-Cg8 72
Cg8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
cell lines studied for most pex26-mutated patients
clinical details based on 1 report


HPO:

31
peroxisome biogenesis disorder 7a:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 7a

UniProtKB/Swiss-Prot : 72 Peroxisome biogenesis disorder 7A: 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 8: 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 7a, also known as pbd7a, is related to peroxisome biogenesis disorder 7b, and has symptoms including icterus An important gene associated with Peroxisome Biogenesis Disorder 7a is PEX26 (Peroxisomal Biogenesis Factor 26). Affiliated tissues include eye and liver, and related phenotypes are nystagmus and high palate

Disease Ontology : 12 A peroxisomal biogenesis disorder that has material basis in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.

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 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see 214100. (614872) (Updated 20-May-2021)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 7a

Human phenotypes related to Peroxisome Biogenesis Disorder 7a:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 high palate 31 HP:0000218
3 cataract 31 HP:0000518
4 hepatomegaly 31 HP:0002240
5 epiphyseal stippling 31 HP:0010655
6 flat face 31 HP:0012368
7 low-set ears 31 HP:0000369
8 jaundice 31 HP:0000952
9 talipes equinovarus 31 HP:0001762
10 long philtrum 31 HP:0000343
11 flat occiput 31 HP:0005469
12 high forehead 31 HP:0000348
13 severe muscular hypotonia 31 HP:0006829
14 feeding difficulties 31 HP:0011968
15 posteriorly rotated ears 31 HP:0000358
16 generalized neonatal hypotonia 31 HP:0008935
17 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
bilateral lenticular cataract

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skin Nails Hair Skin:
jaundice

Skeletal Skull:
flat occiput
large anterior and posterior fontanels

Skeletal Limbs:
talipes equinovarus, bilateral

Laboratory Abnormalities:
zellweger complementation group 8 (cg8)
zellweger complementation group a (cga)
no catalase import by peroxisomes in patient fibroblasts
no thiolase import by peroxisomes in patient fibroblasts
elevated very long chain fatty acids (vlcfas)

Head And Neck Face:
flat face
high forehead

Abdomen Liver:
jaundice

Head And Neck Mouth:
long philtrum
high-arched palate

Muscle Soft Tissue:
hypotonia, severe

Neurologic Central Nervous System:
cortical polymicrogyria, bilateral

Clinical features from OMIM®:

614872 (Updated 20-May-2021)

UMLS symptoms related to Peroxisome Biogenesis Disorder 7a:


icterus

Drugs & Therapeutics for Peroxisome Biogenesis Disorder 7a

Search Clinical Trials , NIH Clinical Center for Peroxisome Biogenesis Disorder 7a

Genetic Tests for Peroxisome Biogenesis Disorder 7a

Genetic tests related to Peroxisome Biogenesis Disorder 7a:

# Genetic test Affiliating Genes
1 Peroxisome Biogenesis Disorder 7a 29 PEX26

Anatomical Context for Peroxisome Biogenesis Disorder 7a

MalaCards organs/tissues related to Peroxisome Biogenesis Disorder 7a:

40
Eye, Liver

Publications for Peroxisome Biogenesis Disorder 7a

Articles related to Peroxisome Biogenesis Disorder 7a:

# Title Authors PMID Year
1
Preimplantation genetic diagnosis for Zellweger syndrome. 57 6
17336976 2007
2
Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis. 6 57
15858711 2005
3
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. 6 57
12851857 2003
4
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 6
28944237 2017
5
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. 6
26287655 2016
6
Conserved targeting information in mammalian and fungal peroxisomal tail-anchored proteins. 6
26627908 2015
7
Peroxisome biogenesis disorders. 57
17055079 2006
8
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. 6
16257970 2006
9
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. 6
12717447 2003

Variations for Peroxisome Biogenesis Disorder 7a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 7a:

6 (show top 50) (show all 200)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PEX26 NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) SNV Pathogenic 2153 rs28940308 GRCh37: 22:18562674-18562674
GRCh38: 22:18079908-18079908
2 PEX26 NM_001127649.3(PEX26):c.230+1G>T SNV Pathogenic 2159 rs267608190 GRCh37: 22:18561373-18561373
GRCh38: 22:18078607-18078607
3 PEX26 NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) SNV Pathogenic 375504 rs62641229 GRCh37: 22:18562705-18562705
GRCh38: 22:18079939-18079939
4 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
5 PEX26 NM_001127649.3(PEX26):c.254dup (p.Cys86fs) Duplication Pathogenic 2158 rs61752133 GRCh37: 22:18562662-18562663
GRCh38: 22:18079896-18079897
6 PEX26 NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) SNV Pathogenic 2152 rs62641228 GRCh37: 22:18562701-18562701
GRCh38: 22:18079935-18079935
7 PEX26 NM_001127649.3(PEX26):c.34dup (p.Leu12fs) Duplication Pathogenic 2154 rs61752129 GRCh37: 22:18561170-18561171
GRCh38: 22:18078404-18078405
8 PEX26 NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) Indel Pathogenic 970602 GRCh37: 22:18561320-18561321
GRCh38: 22:18078554-18078555
9 PEX26 NM_001127649.3(PEX26):c.354del (p.Val120fs) Deletion Pathogenic 954945 GRCh37: 22:18562758-18562758
GRCh38: 22:18079992-18079992
10 PEX26 NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) SNV Pathogenic 958722 GRCh37: 22:18566324-18566324
GRCh38: 22:18083558-18083558
11 PEX26 NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del) Deletion Pathogenic 2155 GRCh37:
GRCh38:
12 PEX26 NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) SNV Likely pathogenic 2156 rs74315506 GRCh37: 22:18561144-18561144
GRCh38: 22:18078378-18078378
13 PEX26 NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) SNV Conflicting interpretations of pathogenicity 288461 rs201884779 GRCh37: 22:18561342-18561342
GRCh38: 22:18078576-18078576
14 PEX26 NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) SNV Conflicting interpretations of pathogenicity 195337 rs150895887 GRCh37: 22:18561272-18561272
GRCh38: 22:18078506-18078506
15 PEX26 NM_001127649.3(PEX26):c.911G>A (p.Arg304His) SNV Conflicting interpretations of pathogenicity 287097 rs17851387 GRCh37: 22:18570834-18570834
GRCh38: 22:18088068-18088068
16 PEX26 NM_001127649.3(PEX26):c.710G>A (p.Arg237His) SNV Uncertain significance 573858 rs370821533 GRCh37: 22:18567920-18567920
GRCh38: 22:18085154-18085154
17 PEX26 NM_001127649.3(PEX26):c.207C>T (p.Ala69=) SNV Uncertain significance 340751 rs375516973 GRCh37: 22:18561349-18561349
GRCh38: 22:18078583-18078583
18 overlap with 2 genes NC_000022.11:g.(?_17877577)_(18088075_?)dup Duplication Uncertain significance 831643 GRCh37: 22:18360343-18570841
GRCh38:
19 PEX26 NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) SNV Uncertain significance 281576 rs768425084 GRCh37: 22:18561171-18561171
GRCh38: 22:18078405-18078405
20 PEX26 NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) SNV Uncertain significance 844366 GRCh37: 22:18562743-18562743
GRCh38: 22:18079977-18079977
21 PEX26 NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) SNV Uncertain significance 846464 GRCh37: 22:18562648-18562648
GRCh38: 22:18079882-18079882
22 PEX26 NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) SNV Uncertain significance 498392 rs757411841 GRCh37: 22:18567926-18567926
GRCh38: 22:18085160-18085160
23 PEX26 NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) SNV Uncertain significance 852738 GRCh37: 22:18570833-18570833
GRCh38: 22:18088067-18088067
24 PEX26 NM_001127649.3(PEX26):c.129_131CCT[1] (p.Leu45del) Microsatellite Uncertain significance 857575 GRCh37: 22:18561271-18561273
GRCh38: 22:18078505-18078507
25 PEX26 NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) Duplication Uncertain significance 283588 rs759821636 GRCh37: 22:18570817-18570818
GRCh38: 22:18088051-18088052
26 PEX26 NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) SNV Uncertain significance 863150 GRCh37: 22:18566403-18566403
GRCh38: 22:18083637-18083637
27 PEX26 NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) SNV Uncertain significance 449363 rs61752135 GRCh37: 22:18562762-18562762
GRCh38: 22:18079996-18079996
28 PEX26 NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) SNV Uncertain significance 597480 rs200279475 GRCh37: 22:18561174-18561174
GRCh38: 22:18078408-18078408
29 PEX26 NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) SNV Uncertain significance 597004 rs368118099 GRCh37: 22:18561240-18561240
GRCh38: 22:18078474-18078474
30 PEX26 NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) SNV Uncertain significance 498175 rs150451390 GRCh37: 22:18566402-18566402
GRCh38: 22:18083636-18083636
31 PEX26 NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) SNV Uncertain significance 285540 rs45567240 GRCh37: 22:18562734-18562734
GRCh38: 22:18079968-18079968
32 PEX26 NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) SNV Uncertain significance 287366 rs142648687 GRCh37: 22:18566240-18566240
GRCh38: 22:18083474-18083474
33 PEX26 NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) SNV Uncertain significance 498175 rs150451390 GRCh37: 22:18566402-18566402
GRCh38: 22:18083636-18083636
34 PEX26 NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) SNV Uncertain significance 281576 rs768425084 GRCh37: 22:18561171-18561171
GRCh38: 22:18078405-18078405
35 PEX26 NM_001127649.3(PEX26):c.667+8A>G SNV Uncertain significance 593793 rs200880379 GRCh37: 22:18566506-18566506
GRCh38: 22:18083740-18083740
36 PEX26 NM_001127649.3(PEX26):c.911G>A (p.Arg304His) SNV Uncertain significance 287097 rs17851387 GRCh37: 22:18570834-18570834
GRCh38: 22:18088068-18088068
37 PEX26 NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) SNV Uncertain significance 597480 rs200279475 GRCh37: 22:18561174-18561174
GRCh38: 22:18078408-18078408
38 PEX26 NM_001127649.3(PEX26):c.230+3A>G SNV Uncertain significance 595256 rs757200331 GRCh37: 22:18561375-18561375
GRCh38: 22:18078609-18078609
39 PEX26 NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) SNV Uncertain significance 501434 rs369695924 GRCh37: 22:18566327-18566327
GRCh38: 22:18083561-18083561
40 PEX26 NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) SNV Uncertain significance 937674 GRCh37: 22:18566212-18566212
GRCh38: 22:18083446-18083446
41 PEX26 NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) SNV Uncertain significance 938319 GRCh37: 22:18561219-18561219
GRCh38: 22:18078453-18078453
42 PEX26 NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) SNV Uncertain significance 940519 GRCh37: 22:18570774-18570774
GRCh38: 22:18088008-18088008
43 PEX26 NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) SNV Uncertain significance 942090 GRCh37: 22:18566466-18566466
GRCh38: 22:18083700-18083700
44 PEX26 NM_001127649.3(PEX26):c.371+6T>C SNV Uncertain significance 951220 GRCh37: 22:18562786-18562786
GRCh38: 22:18080020-18080020
45 PEX26 NM_001127649.3(PEX26):c.198C>T (p.Ala66=) SNV Uncertain significance 287773 rs374290931 GRCh37: 22:18561340-18561340
GRCh38: 22:18078574-18078574
46 PEX26 NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) SNV Uncertain significance 340752 rs766581207 GRCh37: 22:18561350-18561350
GRCh38: 22:18078584-18078584
47 PEX26 NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) SNV Uncertain significance 197316 rs138232280 GRCh37: 22:18566474-18566474
GRCh38: 22:18083708-18083708
48 PEX26 NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) SNV Uncertain significance 288461 rs201884779 GRCh37: 22:18561342-18561342
GRCh38: 22:18078576-18078576
49 PEX26 NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) SNV Uncertain significance 2157 rs61752132 GRCh37: 22:18561276-18561276
GRCh38: 22:18078510-18078510
50 PEX26 NM_001127649.3(PEX26):c.*578A>G SNV Uncertain significance 903529 GRCh37: 22:18571419-18571419
GRCh38: 22:18088653-18088653

UniProtKB/Swiss-Prot genetic disease variations for Peroxisome Biogenesis Disorder 7a:

72
# Symbol AA change Variation ID SNP ID
1 PEX26 p.Gly89Arg VAR_018648 rs28940308
2 PEX26 p.Arg98Trp VAR_018649 rs62641228

Expression for Peroxisome Biogenesis Disorder 7a

Search GEO for disease gene expression data for Peroxisome Biogenesis Disorder 7a.

Pathways for Peroxisome Biogenesis Disorder 7a

GO Terms for Peroxisome Biogenesis Disorder 7a

Sources for Peroxisome Biogenesis Disorder 7a

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
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36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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
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