loading...| Preferred Name |
Oculocutaneous albinism |
|
| Synonyms |
OCA |
|
| Definitions |
A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_55 |
|
| alternative_term |
OCA |
|
| definition |
A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 |
|
| has_age_of_onset |
Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-11:EC23.20 UMLS:C0078918 MeSH:D016115 |
|
| label |
Oculocutaneous albinism |
|
| notation |
Clinical group ORPHA:55 |
|
| prefixIRI |
ORDO:Orphanet_55 |
|
| prefLabel |
Oculocutaneous albinism |
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 5.9 AND has_point_prevalence_range : 1-9 / 100 000 Denmark AND has_birth_prevalence_average_value : 3.9 AND has_birth_prevalence_range : 1-9 / 100 000 South Africa AND has_point_prevalence_average_value : 45.0 AND has_point_prevalence_range : 1-5 / 10 000 |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_352728 http://www.orpha.net/ORDO/Orphanet_183469 http://www.orpha.net/ORDO/Orphanet_557492 |