Peroxisome Biogenesis Disorder 8a (zellweger); Pbd8a
Description
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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.
Genes related to Peroxisome Biogenesis Disorder 8a (zellweger); Pbd8a
- PEX16
Clinical Features
Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 8a (zellweger); Pbd8a
- Seizures
- Generalized hypotonia
- Muscular hypotonia
- Cataract
- Hepatomegaly
- Ventricular septal defect
- Jaundice
- Feeding difficulties in infancy
- Severe global developmental delay
- Epiphyseal stippling
And another 2 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Peroxisome Biogenesis Disorder 8a (zellweger); Pbd8a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
NGS Peroxisome Biogenesis Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
PEX26, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
9 %
Genes
100 % |
Lysosomal Storage Disease Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
Zellweger Spectrum Disorder NGS Panel.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
PEX26, DNM1L, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
8 %
Genes
100 % |
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SCP2, ACOX1, PEX26, DNM1L, HSD17B4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
7 %
Genes
100 % |
Peroxisomal Disorders Comprehensive NGS Panel.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).
SCP2, ACOX1, CAT, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, TRIM37, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Liver Diseases Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
You can get up to 49 more panels with our dedicated tool
Learn moreSources and references
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