U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

Items: 5

1.

Dense granule disease

MedGen UID:
1842467
Concept ID:
C5680362
Disease or Syndrome
2.

Oculocutaneous or ocular albinism

MedGen UID:
1826128
Concept ID:
C5681694
Disease or Syndrome
3.

Abnormal platelet granules

An anomaly of alpha or dense granules or platelet lysosomes. [from HPO]

MedGen UID:
868741
Concept ID:
C4023146
Anatomical Abnormality
4.

Osteoporosis-oculocutaneous hypopigmentation syndrome

Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
331321
Concept ID:
C1832592
Disease or Syndrome
5.

Oculocutaneous albinism

Oculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. 

Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).

Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.

There are several additional, rare types of oculocutaneous albinism. [from MedlinePlus Genetics]

MedGen UID:
36250
Concept ID:
C0078918
Congenital Abnormality
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...