Xeroderma Pigmentosum, Complementation Group B; Xpb

Description

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum, Complementation Group B; Xpb

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Hyperreflexia
  • Optic atrophy
  • Ventriculomegaly

And another 20 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Xeroderma Pigmentosum, Complementation Group B; Xpb Is also known as xp, group b, xpbc.

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.

Xeroderma Pigmentosum, Complementation Group B; Xpb Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
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 %
ERCC3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ERCC3
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Trichothiodystrophy (sequence analysis of ERCC3 gene).

By CGC Genetics (Portugal).

ERCC3
Specificity
100 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Trichothiodystrophy (NGS panel of 5 genes).

By CGC Genetics (Portugal).

RNF113A, MPLKIP, GTF2H5, ERCC2, ERCC3
Specificity
20 %
Genes
100 %
Xeroderma pigmentosum group B (XPB, deletion/duplication analysis of ERCC3 gene).

By CGC Genetics (Portugal).

ERCC3
Specificity
100 %
Genes
100 %

You can get up to 52 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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