Diseases associated with photosensitivity [81 genes]

A patient is considered to have photosensitivity when they have an abnormal reaction to ultraviolet light, whether natural or artificial. There is a group of genetic diseases that cause photosensitivity. They are the following:

  • Xeroderma pigmentosum.
  • Bloom syndrome.
  • Cockayne syndrome.
  • Rothmund-Thomson syndrome.
  • Trichothiodystrophy.
  • Smith-Lemli-Opitz syndrome.
  • Kindler syndrome.
  • Porphyrias.
  • Hartnup disease.

  • Xeroderma pigmentosum: 1 / 1,000,000.
  • Bloom syndrome: unknown.
  • Cockayne syndrome: 1/200,000.
  • Rothmund-Thomson syndrome: unknown, about 300 cases have been described.
  • Trichothiodystrophy: 1/830,000 in Europe.
  • Smith-Lemli-Opitz syndrome: 1/20,000 – 1/40,000.
  • Porphyrias: 1-9 / 100,000.
  • Hartnup disease: 1/30,000.

Genetic diseases that cause photosensitivity can involve a complex differential diagnosis, so a way to speed up the diagnostic process is to resort to a genetic study that includes these diseases with their respective differential diagnoses based on skin manifestations that present. This service aims to meet this need, including both genetic diseases associated with photosensitivity and others that could be confused due to their skin expression.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in syndromic patients.

Indicated when photosensitivity with an unexplained cause is evident after clinical examination and the main complementary examinations. Likewise, it is also recommended to confirm a clinical suspicion.

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Diseases associated with photosensitivity

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313138

Diseases associated with photosensitivity: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with high, moderate, and low evidence related to the entities mentioned above, as well as those associated with differential diagnosis entities.

  • AARS
  • ACD
  • ALAD
  • ALAS2
  • ANAPC1
  • ATM
  • BLM
  • BRCA1
  • BRCA2
  • BRIP1
  • CD151
  • CLPX
  • COL17A1
  • COL7A1
  • CPOX
  • CTC1
  • DDB2
  • DHCR7
  • DKC1
  • ERCC1
  • ERCC2
  • ERCC3
  • ERCC4
  • ERCC5
  • ERCC6
  • ERCC8
  • FAM111B
  • FANCA
  • FANCB
  • FANCC
  • FANCD2
  • FANCE
  • FANCF
  • FANCG
  • FANCI
  • FANCL
  • FECH
  • FERMT1
  • GATA1
  • GTF2E2
  • GTF2H5
  • HFE
  • HMBS
  • KRT14
  • KRT5
  • LAMA3
  • LAMB3
  • LAMC2
  • LMNA
  • MAD2L2
  • MARS
  • MPLKIP
  • NHP2
  • NOP10
  • PALB2
  • PARN
  • POLH
  • PPOX
  • PRKAR1A
  • RAD51
  • RAD51C
  • RECQL4
  • RFWD3
  • RNF113A
  • RTEL1
  • SLC6A19
  • SLX4
  • TARS
  • TERC
  • TERT
  • TINF2
  • UBE2T
  • UROD
  • UROS
  • USB1
  • UVSSA
  • WRAP53
  • WRN
  • XPA
  • XPC
  • XRCC2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • Xeroderma pigmentosum.
  • Bloom syndrome.
  • Cockayne syndrome.
  • Rothmund-Thomson syndrome.
  • Trichothiodystrophy.
  • Smith-Lemli-Opitz syndrome.
  • Kindler syndrome.
  • Porphyrias.
  • Hartnup disease.

References

  1. Kraemer KH, DiGiovanna JJ, Tamura D. Xeroderma Pigmentosum. 2003 Jun 20 [Updated 2022 Mar 24]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1397/
  2. Flanagan M, Cunniff CM. Bloom Syndrome. 2006 Mar 22 [Updated 2019 Feb 14]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1398/
  3. Laugel V. Cockayne Syndrome. 2000 Dec 28 [Updated 2019 Aug 29]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1342/
  4. Wang LL, Plon SE. Rothmund-Thomson Syndrome. 1999 Oct 6 [Updated 2020 Jun 4]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1237/
  5. Erwin A, Balwani M, Desnick RJ; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Congenital Erythropoietic Porphyria. 2013 Sep 12 [Updated 2021 Apr 15]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK154652/