MCID: PRX051
MIFTS: 22

Peroxisome Biogenesis Disorder 6a

Categories: Genetic diseases, Nephrological diseases, Liver diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Peroxisome Biogenesis Disorder 6a

MalaCards integrated aliases for Peroxisome Biogenesis Disorder 6a:

Name: Peroxisome Biogenesis Disorder 6a 57 75 29 13 6 73
Pbd6a 57 75
Peroxisome Biogenesis Disorder, Complementation Group 7 6
Peroxisome Biogenesis Disorder Complementation Group 7 75
Peroxisome Biogenesis Disorder Complementation Group B 75
Peroxisome Biogenesis Disorder, Type 6a 40
Pbd-Cgb 75
Pbd-Cg7 75
Cg7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report from a cell line, no clinical information available


HPO:

32
peroxisome biogenesis disorder 6a:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peroxisome Biogenesis Disorder 6a

UniProtKB/Swiss-Prot : 75 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 pbd6a, is related to peroxisome biogenesis disorder 6b. An important gene associated with Peroxisome Biogenesis Disorder 6a is PEX10 (Peroxisomal Biogenesis Factor 10). Affiliated tissues include liver and eye, and related phenotypes are seizures and pachygyria

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)

Symptoms & Phenotypes for Peroxisome Biogenesis Disorder 6a

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
zellweger complementation group 7


Clinical features from OMIM:

614870

Human phenotypes related to Peroxisome Biogenesis Disorder 6a:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 pachygyria 32 HP:0001302
3 hepatomegaly 32 HP:0002240
4 feeding difficulties in infancy 32 HP:0008872
5 generalized neonatal hypotonia 32 HP:0008935
6 epiphyseal stippling 32 HP:0010655
7 severe global developmental delay 32 HP:0011344

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:

41
Liver, Eye

Publications for Peroxisome Biogenesis Disorder 6a

Variations for Peroxisome Biogenesis Disorder 6a

ClinVar genetic disease variations for Peroxisome Biogenesis Disorder 6a:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PEX10 NM_153818.1(PEX10): c.600+1G> A single nucleotide variant Pathogenic rs267608183 GRCh37 Chromosome 1, 2339890: 2339890
2 PEX10 NM_153818.1(PEX10): c.600+1G> A single nucleotide variant Pathogenic rs267608183 GRCh38 Chromosome 1, 2408451: 2408451
3 PEX10 PEX10, 2-BP DEL, 814CT deletion Pathogenic
4 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh37 Chromosome 1, 2338231: 2338231
5 PEX10 NM_153818.1(PEX10): c.764dupA (p.Leu256Alafs) duplication Pathogenic rs61750435 GRCh38 Chromosome 1, 2406792: 2406792
6 PEX10 PEX10, DEL/INS/FS, NT13 indel Pathogenic
7 PEX10 NM_153818.1(PEX10): c.927_928insG (p.His310Alafs) insertion Pathogenic rs797044762 GRCh37 Chromosome 1, 2337967: 2337968
8 PEX10 NM_153818.1(PEX10): c.927_928insG (p.His310Alafs) insertion Pathogenic rs797044762 GRCh38 Chromosome 1, 2406528: 2406529
9 PEX10 NM_153818.1(PEX10): c.880A> G (p.Thr294Ala) single nucleotide variant Benign/Likely benign rs34154371 GRCh37 Chromosome 1, 2338015: 2338015
10 PEX10 NM_153818.1(PEX10): c.880A> G (p.Thr294Ala) single nucleotide variant Benign/Likely benign rs34154371 GRCh38 Chromosome 1, 2406576: 2406576
11 PEX10 NM_153818.1(PEX10): c.895G> T (p.Glu299Ter) single nucleotide variant Pathogenic rs62641225 GRCh37 Chromosome 1, 2338000: 2338000
12 PEX10 NM_153818.1(PEX10): c.895G> T (p.Glu299Ter) single nucleotide variant Pathogenic rs62641225 GRCh38 Chromosome 1, 2406561: 2406561
13 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh38 Chromosome 1, 2406581: 2406582
14 PEX10 NM_153818.1(PEX10): c.874_875delCT (p.Leu292Valfs) deletion Pathogenic rs61752093 GRCh37 Chromosome 1, 2338020: 2338021
15 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh38 Chromosome 1, 2408700: 2408700
16 PEX10 NM_153818.1(PEX10): c.352C> T (p.Gln118Ter) single nucleotide variant Likely pathogenic rs369965266 GRCh37 Chromosome 1, 2340139: 2340139
17 PEX10 NM_153818.1(PEX10): c.665G> A (p.Arg222His) single nucleotide variant Uncertain significance rs371979619 GRCh37 Chromosome 1, 2338330: 2338330
18 PEX10 NM_153818.1(PEX10): c.665G> A (p.Arg222His) single nucleotide variant Uncertain significance rs371979619 GRCh38 Chromosome 1, 2406891: 2406891

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

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