ALBINISM

Pronunciation (US):

(GB):

 Dictionary entry overview: What does albinism mean? 

• ALBINISM (noun)
  The noun ALBINISM has 1 sense:

1. the congenital absence of pigmentation in the eyes and skin and hair

  Familiarity information: ALBINISM used as a noun is very rare.

 Dictionary entry details 

• ALBINISM (noun)

Sense 1

Meaning:

The congenital absence of pigmentation in the eyes and skin and hair

Classified under:

Nouns denoting stable states of affairs

Hypernyms ("albinism" is a kind of...):

hypopigmentation (unusual lack of skin color)

birth defect; congenital abnormality; congenital anomaly; congenital defect; congenital disorder (a defect that is present at birth)

Derivation:

albinal; albinic; albinistic; albinotic (of or pertaining to or affected by albinism)

 Context examples 

A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis.

(Hermansky-Pudlak Syndrome, NCI Thesaurus)

People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin.

(Albinism, NCI Dictionary)

Genes in immediate proximity of these different DNA alleles included one that repairs DNA damage caused by UV light (DDB1), two that are associated with albinism (OCA2 and SLC24A5) and one that contributes to the production of a novel lysosomal protein (MFSD12).

(New regions of the human genome linked to skin color variation in some African populations, National Institutes of Health)

Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function.

(Chediak-Higashi Syndrome, NCI Thesaurus)