| Disease ID | Source | Name | Description |
| 606952 | OMIM | Albinism, oculocutaneous, 1B (OCA1B) | An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. The disease is caused by variants affecting the gene represented in this entry. |
| 203100 | OMIM | Albinism, oculocutaneous, 1A (OCA1A) | An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. The disease is caused by variants affecting the gene represented in this entry. |
| 103470 | OMIM | Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) | A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis. |