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Brief facts about xp7:

Xeroderma pigmentosum is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet light. Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers. XP is autosomal recessive, with mutations in at least nine specific genes able to result in the condition. Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair. In people with xeroderma pigmentosum, this damage is not repaired.

Genetic disorder - A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes or by a chromosomal abnormality.

Cockayne syndrome - Cockayne syndrome, also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, eye disorders and premature aging.

Photophobia - Photophobia is a medical symptom of abnormal intolerance to visual perception of light.

Senescence - Senescence or biological aging is the gradual deterioration of functional characteristics in living organisms. The word senescence can refer to either cellular senescence or to senescence of the whole organism.

Progeroid syndromes

DNA replication and repair-deficiency disorders

Hereditary cancers

Genodermatoses

Autosomal recessive disorders

 

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