PBD7A
MCID: PRX046
MIFTS: 25

Peroxisome Biogenesis Disorder 7a (PBD7A)

Categories: Endocrine 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 58 12 76 30 13 6 74
Pbd7a 58 76
Peroxisome Biogenesis Disorder Complementation Group 8 76
Peroxisome Biogenesis Disorder Complementation Group a 76
Peroxisome Biogenesis Disorder, Type 7a 41
Pbd-Cga 76
Pbd-Cg8 76
Cg8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
peroxisome biogenesis disorder 7a:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 7a

UniProtKB/Swiss-Prot : 76 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 liver and eye, and related phenotypes are low-set ears 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 : 58 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)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 7a

Human phenotypes related to Peroxisome Biogenesis Disorder 7a:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 low-set ears 33 HP:0000369
2 high palate 33 HP:0000218
3 nystagmus 33 HP:0000639
4 seizures 33 HP:0001250
5 cataract 33 HP:0000518
6 hepatomegaly 33 HP:0002240
7 long philtrum 33 HP:0000343
8 feeding difficulties 33 HP:0011968
9 epiphyseal stippling 33 HP:0010655
10 flat face 33 HP:0012368
11 jaundice 33 HP:0000952
12 talipes equinovarus 33 HP:0001762
13 flat occiput 33 HP:0005469
14 high forehead 33 HP:0000348
15 severe muscular hypotonia 33 HP:0006829
16 generalized neonatal hypotonia 33 HP:0008935
17 posteriorly rotated ears 33 HP:0000358

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
long philtrum
high-arched palate

Abdomen Liver:
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 Eyes:
nystagmus
bilateral lenticular cataract

Head And Neck Face:
flat face
high forehead

Skin Nails Hair Skin:
jaundice

Muscle Soft Tissue:
hypotonia, severe

Neurologic Central Nervous System:
cortical polymicrogyria, bilateral

Clinical features from OMIM:

614872

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 30

Anatomical Context for Peroxisome Biogenesis Disorder 7a

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

42
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 7a

Variations for Peroxisome Biogenesis Disorder 7a

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

76
# Symbol AA change Variation ID SNP ID
1 PEX26 p.Gly89Arg VAR_018648 rs28940308
2 PEX26 p.Arg98Trp VAR_018649 rs62641228

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 7a:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX26 NM_017929.5(PEX26): c.265G> A (p.Gly89Arg) single nucleotide variant Pathogenic rs28940308 GRCh37 Chromosome 22, 18562674: 18562674
2 PEX26 NM_017929.5(PEX26): c.265G> A (p.Gly89Arg) single nucleotide variant Pathogenic rs28940308 GRCh38 Chromosome 22, 18079908: 18079908
3 PEX26 NM_017929.5(PEX26): c.34dupC (p.Leu12Profs) duplication Pathogenic rs61752129 GRCh37 Chromosome 22, 18561176: 18561176
4 PEX26 NM_017929.5(PEX26): c.34dupC (p.Leu12Profs) duplication Pathogenic rs61752129 GRCh38 Chromosome 22, 18078410: 18078410
5 PEX26 NM_017929.5(PEX26): c.668_814del (p.Gly223_Pro271del) deletion Pathogenic
6 PEX26 NM_017929.5(PEX26): c.254dupT (p.Cys86Valfs) duplication Pathogenic rs61752133 GRCh37 Chromosome 22, 18562663: 18562663
7 PEX26 NM_017929.5(PEX26): c.254dupT (p.Cys86Valfs) duplication Pathogenic rs61752133 GRCh38 Chromosome 22, 18079897: 18079897
8 PEX26 NM_017929.5(PEX26): c.230+1G> T single nucleotide variant Pathogenic rs267608190 GRCh37 Chromosome 22, 18561373: 18561373
9 PEX26 NM_017929.5(PEX26): c.230+1G> T single nucleotide variant Pathogenic rs267608190 GRCh38 Chromosome 22, 18078607: 18078607
10 PEX26 NM_017929.5(PEX26): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs17851387 GRCh37 Chromosome 22, 18570834: 18570834
11 PEX26 NM_017929.5(PEX26): c.911G> A (p.Arg304His) single nucleotide variant Likely benign rs17851387 GRCh38 Chromosome 22, 18088068: 18088068
12 PEX26 NM_017929.5(PEX26): c.296G> A (p.Trp99Ter) single nucleotide variant Pathogenic rs62641229 GRCh38 Chromosome 22, 18079939: 18079939
13 PEX26 NM_017929.5(PEX26): c.296G> A (p.Trp99Ter) single nucleotide variant Pathogenic rs62641229 GRCh37 Chromosome 22, 18562705: 18562705
14 PEX26 NM_017929.5(PEX26): c.710G> A (p.Arg237His) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18085154: 18085154
15 PEX26 NM_017929.5(PEX26): c.710G> A (p.Arg237His) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18567920: 18567920

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

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