encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

Albinism, Oculocutaneous

More information in Books or onNLM PubMed
Definition: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.     
Examples Hermanski-Pudlak Syndrome
Other names Albinism, Yellow-Mutant; Albinism, Tyrosinase-Positive; Albinism, Tyrosinase-Negative; Yellow-Mutant Albinism; Tyrosinase-Positive Albinism; Tyrosinase-Negative Albinism; Oculocutaneous Albinism; Mutant Albinisms, Yellow; Mutant Albinism, Yellow; Albinism, Yellow Mutant; Albinism, Tyrosinase Positive; Albinism, Tyrosinase Negative; Yellow Mutant Albinism
 
SubstanceCAS Registry & nameCategoriesSource
OCA3 protein, human  0   *Membrane Proteins Albinism, Oculocutaneous. Am J Med Genet A. 2009 Jul;149A(7):1578-80
Oculocutaneous albinism type 3  0   *Albinism, Oculocutaneous.
Oculocutaneous albinism type 2  0   *Albinism, Oculocutaneous.
Oculocutaneous albinism type 1B  0   *Albinism, Oculocutaneous.
Oculocutaneous albinism type 1  0   *Albinism, Oculocutaneous.
Rufous oculocutaneous albinism  0   *Albinism, Oculocutaneous.
Tietz syndrome  0   *Deafness *Albinism, Oculocutaneous.

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify.
We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy