Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
11q14.3
Oculocutaneous Albinism Type 1 (OCA1) is a condition characterised by reduced pigment in the skin, hair, and eyes of affected individuals. Based on clinical observation, two different types of OCA1, A and B, can be distinguished in humans. While OCA1A is the more severe phenotype, resulting in the complete absence of pigment throughout life, OCA1B is milder, and affected patients, although born with little or no pigment, attain gradual pigmentation over time.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 203100.G.1 | Lebanon | Albinism Albinism  | NM_000372.5:c.149C>A, NM_000372.5:c.255T>G, NM_000372.5:c.766C>T, NM_000372.4:c.814T>C, NM_000372.5:c.896G>A, NM_000372.5:c.1037G>A, NM_000372.5:c.1076A>T, NM_000372.5:c.1078A>G, NM_000372.4:c.1207del, NM_000372.5:c.1204C>T, NM_000372.5:c.1298A>G, NM_000372.5:c.1342G>A | Autosomal, Recessive | Zahed et al. 2005 | Group of 14 patients... |