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variant type Xeroderma pigmentosum

Also Known As:

Xeroderma pigmentosum, variant type; Photosensitivity with defective DNA synthesis; Xeroderma pigmentosum with normal DNA repair rates

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Neoplasms: 1324753
- Precancerous Conditions: 304
  - Xeroderma Pigmentosum: 1866
    - variant type Xeroderma pigmentosum: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Xeroderma Pigmentosum: 1866
      - variant type Xeroderma pigmentosum: 3
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Xeroderma Pigmentosum: 1866
      - variant type Xeroderma pigmentosum: 3
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Xeroderma Pigmentosum: 1866
      - variant type Xeroderma pigmentosum: 3

Related Diseases

1.	von Willebrand Diseases (von Willebrand's Disease)
2.	Neoplasms (Cancer)

Experts

1.	Fang, Hong: 1 article (01/2013)
2.	Liu, Xiaoyan: 1 article (01/2013)
3.	Qiao, Jianjun: 1 article (01/2013)
4.	Zhang, Xianning: 1 article (01/2013)
5.	Inui, Hiroki: 1 article (07/2007)
6.	Masaki, Taro: 1 article (07/2007)
7.	Matsumura, Yasuhiro: 1 article (07/2007)
8.	Miyachi, Yoshiki: 1 article (07/2007)
9.	Moriwaki, Shinichi: 1 article (07/2007)
10.	Nagano, Tohru: 1 article (07/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to variant type Xeroderma pigmentosum:

1.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2013 - "Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type."
2.	Factor XI (Plasma Thromboplastin Antecedent)IBA 10/01/1993 - "We report a 28-year-old-Japanese male who had a skin tumor derived from variant type xeroderma pigmentosum (XP), combined with factor XI (FXI) deficiency and type IIB von Willebrand's disease (vWd). "
3.	Rad30 proteinIBA 07/01/2007 - "Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type."