XERODERMA PIGMENTOSUM

Pronunciation (US):

(GB):

 Dictionary entry overview: What does xeroderma pigmentosum mean? 

• XERODERMA PIGMENTOSUM (noun)
  The noun XERODERMA PIGMENTOSUM has 1 sense:

1. a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light

  Familiarity information: XERODERMA PIGMENTOSUM used as a noun is very rare.

 Dictionary entry details 

• XERODERMA PIGMENTOSUM (noun)

Sense 1

Meaning:

A rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("xeroderma pigmentosum" is a kind of...):

xeroderma; xerodermia (a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin)

 Context examples 

Defects in this allele can result in three different disorders, xeroderma pigmentosum complementation group D, trichothiodystrophy and Cockayne syndrome.

(ERCC2 wt Allele, NCI Thesaurus)

This gene is involved in nucleotide excision repair and is involved in the correction of defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group F.

(ERCC4 Gene, NCI Thesaurus)

In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD).

(Nucleotide Excision Repair Pathway, NCI Thesaurus/KEGG)

This gene is involved in nucleotide excision repair and corrects sensitivity to UV radiation and defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group D.

(ERCC2 Gene, NCI Thesaurus)

Causative mutations in the ERCC4 gene and strongly reduced levels of encoded protein can be identified in patients with xeroderma pigmentosum type F.

(DNA Excision Repair Protein ERCC-4, NCI Thesaurus)

Mutation of the gene is associated with xeroderma pigmentosum complementation group E.

(DDB2 wt Allele, NCI Thesaurus)

It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

(De Sanctis-Cacchione Syndrome, NCI Thesaurus)

A lotion being studied in the treatment of skin cancer and a skin condition called xeroderma pigmentosum.

(Dimericine, NCI Dictionary)

It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair.

(Cerebrooculofacioskeletal Syndrome, NCI Thesaurus)