Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
30 results
  1. Oculocutaneous Albinism Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1166
    ... to be associated with mutation of TYR . Differential Diagnosis Albinism. The ocular features of all types of oculocutaneous ... often slowly improving into the mid-teens. A diagnosis of ocular albinism (OA) is probable in the presence of infantile ...
  2. Albinism 
    https://medlineplus.gov/ency/article/001479.htm
    Contact your provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of ...
  3. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... heightened suspicion is needed to pursue an accurate diagnosis. Oculocutaneous albinism. The seven types of oculocutaneous albinism ( OCA type ... involvement. An infectious component is absent from this ... short stature, congenital neutropenia, and lymphoid deficiency. Neutrophils ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2.</html: ...
  5. Oculocutaneous albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism
    ... vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen with type 2. Several ... gene, but they do not show signs and symptoms of the condition. Other Names for This ... Additional Information & Resources Genetic Testing Information ...
  6. Ocular albinism: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/ocular-albinism
    ... type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. Frequency The most common ...
  7. Hermansky-Pudlak syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome
    ... the same protein complex cause similar signs and symptoms. People with this syndrome have oculocutaneous albinism because the LROs within melanocytes cannot produce and ...
  8. SHOX Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1215
    ... Releasing Hormone (GnRH) Deficiency ), ocular albinism (see Ocular Albinism, X-Linked ), intellectual disability, and SHOX-deficient short stature [ Ballabio et al 1989 , Spranger et al 1999 , Boycott et al 2003 , Doherty et al 2003 ]. Differential Diagnosis The differential diagnosis of isolated SHOX-deficient short ...
  9. Skin Pigmentation Disorders | Hyperpigmentation | MedlinePlus 
    https://medlineplus.gov/skinpigmentationdisorders.html
    ... condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin. Start Here ... (VisualDX) Treatments and ...
  10. Griscelli syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/griscelli-syndrome
    ... but they typically do not show signs and symptoms of the condition. Other Names for This Condition GS Hypopigmentation immunodeficiency disease Partial albinism with immunodeficiency Additional Information & Resources Genetic Testing Information ...
previous · 1 · 2 · 3 · next