oculocutaneous albinism

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Information
Disease name
oculocutaneous albinism
Disease ID
DOID:0050632
Description
"A syndrome characterized by abnormal pigmentation of the skin, hair and eyes." [url:http\://en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
SLC45A2 5 33,944,623 33,984,693 20
TYR 11 89,177,875 89,295,759 12
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00001596 Completed Phase 2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome September 2005 May 9, 2016
NCT00808106 Completed Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism December 11, 2008 December 31, 2019
NCT04068961 Completed New Strategies of Genetic Study of Patients With Oculocutaneous Albinism September 15, 2010 October 31, 2010
NCT06138509 Recruiting Peripheral Serotonin and Albinism February 6, 2024 February 2026
NCT00467831 Terminated Phase 1/Phase 2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome April 2007 November 2012
NCT01663935 Terminated Phase 2 Vision Response to Dopamine Replacement October 17, 2012 April 12, 2018
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:10958
Cross Reference ID (Disease Ontology)
ICD10CM:E70.3
Cross Reference ID (Disease Ontology)
MESH:D016115
Cross Reference ID (Disease Ontology)
MIM:PS203100
Cross Reference ID (Disease Ontology)
ORDO:55
OMIM Phenotype Series Number (OMIM)
PS203100
OrphaNumber from OrphaNet (Orphanet)
55