Xeroderma Pigmentosum, Complementation Group F; Xpf

Description

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Xeroderma Pigmentosum, Complementation Group F; Xpf

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Growth delay
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment

And another 39 symptoms. If you need more information about this disease we can help you.

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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 F; Xpf Is also known as xp6, xp, group f, xeroderma pigmentosum vi.

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.


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Xeroderma Pigmentosum, Complementation Group F; Xpf Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Bone Marrow Failure Syndromes 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).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Fanconi Anemia 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).

BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Fanconi Anemia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BRCA2, BRIP1, FANCL, FANCM, SLX4, FANCI, PALB2, ERCC4, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, RAD51C
Specificity
7 %
Genes
100 %
ERCC4 (FANCQ) Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ERCC4
Specificity
100 %
Genes
100 %
ERCC4 (FANCQ) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ERCC4
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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