Peroxisome Biogenesis Disorder 3b; Pbd3b
Description
The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.
Clinical Features
Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 3b; Pbd3b
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Hypertelorism
- Nystagmus
- Failure to thrive
- Strabismus
- Sensorineural hearing impairment
And another 24 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 3b; Pbd3b Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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 Deletion/duplication panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)
View the complete list with 24 more genes
Specificity
3 %
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 % |
You can get up to 68 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2 XIA-GIBBS SYNDROME PACHYDERMOPERIOSTOSIS LIDDLE SYNDROME; LIDLS CLASSIC PHENYLKETONURIA