Peroxisome Biogenesis Disorder 14b; Pex14b

Description

PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Clinical Features

Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 14b; Pex14b

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Vomiting
  • Intellectual disability, mild
  • Headache
  • Areflexia

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

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Peroxisome Biogenesis Disorder 14b; Pex14b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Peroxisomal Disorders Sequencing Panel.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

SCP2, ACOX1, CAT, GDAP1, PEX26, MFF, FAR1, DNM1L, PEX5L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11A, PEX11B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Peroxisomal disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SCP2, ACOX1, PEX26, DNM1L, AGPS, AGXT, GNPAT, AMACR, HSD17B4, ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene).

By CGC Genetics (Portugal).

PEX11B
Specificity
100 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics (Portugal).

SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)

View the complete list with 88 more genes
Specificity
1 %
Genes
100 %
Zellweger Syndrome Spectrum.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands).

PEX26, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX19, PEX2, PEX5
Specificity
8 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ACOX1, PEX26, DNM1L, AGPS, GNPAT, HSD17B4, ABCD1, ABCD3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PEX19 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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