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Oculocutaneous Albinism (Albinism, Yellow Mutant)

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Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Also Known As:

Albinism, Yellow Mutant; Albinism, Oculocutaneous; Yellow Mutant Albinism; Albinism, Tyrosinase Negative; Albinism, Tyrosinase Positive; Mutant Albinism, Yellow; Mutant Albinisms, Yellow; Tyrosinase-Negative Albinism; Tyrosinase-Positive Albinism; Yellow-Mutant Albinism; Albinism, Tyrosinase-Negative; Albinism, Tyrosinase-Positive; Albinism, Yellow-Mutant

Networked: 300 relevant articles (1 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Menkes Kinky Hair Syndrome (Menkes Disease)
2.	Neurofibromatoses (Neurofibromatosis)
3.	Exfoliative Dermatitis (Erythroderma)
4.	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
5.	Ocular Albinism

Experts

1.	Suzuki, Tamio: 9 articles (12/2011 - 05/2003)
2.	Tomita, Yasushi: 9 articles (08/2009 - 01/2002)
3.	Kono, Michihiro: 5 articles (08/2009 - 01/2002)
4.	Miyamura, Yoshinori: 5 articles (09/2005 - 01/2002)
5.	Hearing, Vincent J: 4 articles (01/2015 - 06/2002)
6.	Brooks, Brian P: 4 articles (01/2014 - 09/2007)
7.	Summers, C Gail: 4 articles (10/2013 - 11/2003)
8.	Gahl, William A: 4 articles (07/2013 - 02/2002)
9.	Shimizu, Hiroshi: 4 articles (07/2005 - 01/2002)
10.	Purohit, Rituraj: 3 articles (12/2014 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Oculocutaneous Albinism:

1.	Monophenol Monooxygenase (Tyrosinase)IBA 11/01/2005 - "This study shows that characterization of tyrosinase and P gene mutations in albinos patients is crucial to (a) differentiate subjects with oculocutaneous albinism types 1 and 2 and establish a correlation between phenotype and genotype, (b) identify healthy heterozygous carriers among the patient's immediate family (parents and siblings) and (c) allow prenatal diagnosis during subsequent pregnancies in couples who have already engendered albino children with severe visual phenotype and documented mutation(s)." 02/01/1978 - "The eyes of a 13-year-old leukemic boy with the attributes of tyrosinase-negative oculocutaneous albinism were obtained for light and electron microscopic study. " 10/01/2015 - "Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase." 01/01/2015 - "Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations." 12/01/2013 - "We have adapted the CRISPR/Cas system for use in Xenopus tropicalis and report on the efficient creation of mutations in the gene encoding the enzyme tyrosinase, which is responsible for oculocutaneous albinism. "
2.	Type 1 Melanocortin ReceptorIBA 08/01/2007 - "In this study, two coding SNPs, c.G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from various areas. " 01/01/2015 - "To address this need, we designed transcription activator-like effector nucleases (TALENs) to target two genes that contain coding changes in cavefish relative to surface fish and map to the same location as QTL for pigmentation, oculocutaneous albinism 2 (oca2) and melanocortin 1 receptor (mc1r). " 06/01/2001 - "The melanocortin-1 receptor (MC1R) and P gene product are two important components of the human pigmentary system that have been shown to be associated with red hair/fair skin and cause type II oculocutaneous albinism, respectively. " 02/01/2010 - "We have previously described the role of red hair (melanocortin-1 receptor, MC1R) and blue eye (oculocutaneous albinism type II, OCA2) gene polymorphisms in modulating the risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population of European descent. " 02/01/2011 - "Melanocortin 1 receptor (MC1R) is involved in various functions, such as pigmentation, antipyretic and anti-inflammatory actions, development of melanoma, susceptibility to ultraviolet-induced sun damage, modification of oculocutaneous albinism, development of freckles, and mediation of female-specific mechanisms of analgesia. "
3.	Melanins (Melanin)IBA 01/01/2015 - "Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. " 03/01/2014 - "Oculocutaneous albinism (OCA) is a congenital genetic disorder characterized by defects in melanin production. " 01/01/2014 - "Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. " 01/01/2014 - "Oculocutaneous albinism is caused by a deficiency of melanin pigment in the skin, hair, and eye and results from mutations in the TYR, P, TRP1 and MATP genes involved in the biosynthesis of melanin pigment. " 01/01/2014 - "Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. "
4.	Retinaldehyde (Retinal)IBA 06/01/2006 - "We measured the topology of the retinal response in two patients with oculocutaneous albinism by using simultaneous fundus monitoring and multifocal electroretinographs (ERGs). " 06/01/2006 - "Topographical retinal function in oculocutaneous albinism." 05/01/2009 - "In this new variant, the genetic, biochemical, and histological markers of muscular dystrophy are combined with signs of oculocutaneous albinism (skin and fur depigmentation), transillumination of the iris, sharply reduced pigmentation of the retinal epithelium, and increase of the eyeball refraction). " 01/01/2009 - "High-quality spectral-domain OCT images obtained from each subject revealed a range of abnormalities in subjects with OA or suspected OA and the subject with oculocutaneous albinism and Hermansky-Pudlak syndrome: persistence of an abnormal, highly reflective band across the fovea, multiple inner retinal layers normally absent at the center of the fovea, and loss of the normally thickened photoreceptor nuclear layer at the fovea when compared with that in control subjects. " 11/01/2007 - "To measure foveal thickness and macular volume in patients with oculocutaneous albinism (OCA) using optical coherence tomography (OCT) technology and to evaluate the possible association between albinism type and OCT retinal findings. "
5.	CopperIBA 01/01/1983 - "Copper metabolism study in oculocutaneous albinism." 11/15/2005 - "Sera from healthy subjects were responsive to aa95-104FMGFNCGNCK, aa222-236IQKLTGDENFTIPYW, and aa233-247 IPYWDWRDAEKCDIC, but did not react with the aa175-182LFVWMHYY and aa176-190FVWMHYYVSMDALLG peptide sequences containing the copper-binding His180 and the oculocutaneous albinism I-A variant position F176. " 11/01/1992 - "Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism." 01/01/1986 - "Zinc and copper metabolism in oculocutaneous albinism in the Caucasian." 08/01/1997 - "Tyrosinase (EC 1.14.18.1) is a copper-containing enzyme that catalyzes several reactions in the biosynthesis of melanin pigments and is deficient in patients with type I oculocutaneous albinism (OCA1). "
6.	dopachrome isomeraseIBA 01/01/2011 - "Four genes (oculocutaneous albinism II (OCA2), tyrosinase-related protein 1 (TYRP1), dopachrome tautomerase (DCT), and KIT ligand (KITLG)) implicated in human skin-color variation, have shown evidence for positive selection in Europeans and East Asians in previous SNP-scan data. " 01/01/2014 - "The sum of these findings suggests that reduced glutathione selectively disrupts the intracellular trafficking of tyrosinase and tyrosinase-related protein-1 but not dopachrome tautomerase and Pmel17 to melanosomes, which results in the attenuation of melanization, probably serving as a putative model for oculocutaneous albinism type 4. " 01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "
7.	Microphthalmia-Associated Transcription FactorIBA 01/01/2008 - "A total of 122 Caucasians in Toledo, Ohio and 100 Mongoloids in Japan were genotyped for 20 SNPs in 7 candidate genes, encoding the Agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), tyrosinase (TYR), melanocortin 1 receptor (MC1R), oculocutaneous albinism II (OCA2), microphthalmia-associated transcription factor (MITF), and myosin VA (MYO5A). " 01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "
8.	Stem Cell FactorIBA 01/01/2011 - "Four genes (oculocutaneous albinism II (OCA2), tyrosinase-related protein 1 (TYRP1), dopachrome tautomerase (DCT), and KIT ligand (KITLG)) implicated in human skin-color variation, have shown evidence for positive selection in Europeans and East Asians in previous SNP-scan data. " 01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "
9.	Cyclic AMP-Dependent Protein Kinase RIIalpha SubunitIBA 01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "
10.	Activating Transcription Factor 1IBA 01/01/2015 - "Serum 25(OH)D and SNPs (n = 960) related to genes with relevance for skin pigmentation (tyrosinase [TYR], TYR-related protein 1 [TYRP1], dopachrome tautomerase [DCT], oculocutaneous albinism II [OCA2], two pore segment channel 2 [TPCN2], solute carrier family 24 A4 [SLC24A4], solute carrier family 45 A2 [SLC45A2], agouti signalling peptide [ASIP], cyclic AMP-dependent transcription factor [ATF1], microphthalmia-associated transcription factor [MITF], proopiomelanocortin [POMC], cAMP-dependent protein kinase catalytic subunit beta [PRKACB], cAMP-dependent protein kinase catalytic subunit gamma [PRKACG], cAMP-dependent protein kinase type I-alpha regulatory subunit [PRKAR1A], cAMP-dependent protein kinase type II-alpha regulatory subunit [PRKAR2A], cAMP-dependent protein kinase type II-beta regulatory subunit [PRKAR2B], tubulin beta-3 chain/melanocortin receptor 1 [TUBB3/MC1R], Cadherin-1 [CDH1], catenin beta 1 [CTNNB1], Endothelin 1 [EDN1], endothelin 3 [EDN3], endothelin receptor type B [EDNRB], fibroblast growth factor 2 [FGF2], KIT, KIT ligand [KITLG], nerve growth factor [NGF], interferon regulatory factor 4 [IRF4], exocyst complex component 2 [EXOC2], and tumor protein 53 [TP53]) were analyzed in a cohort of participants of the Ludwigshafen Risk and Cardiovascular Health Study (n = 2970). "

Therapies and Procedures

1.	Phakic Intraocular Lenses 10/01/2013 - "Implantation of phakic intraocular lens in 3 patients with oculocutaneous albinism." 10/01/2013 - "We present 3 cases with oculocutaneous albinism in which a high refractive error was optically corrected by implantation of an Artisan iris-fixated phakic intraocular lens, with a follow-up of 8 to 14 years. "
2.	Transplants (Transplant) 10/01/1989 - "Split-thickness skin grafts obtained from patients with vitiligo, acquired hypomelanosis guttata, and tyrosinase-negative albinism were grafted onto nude mice. "
3.	Intraocular Lens Implantation 09/01/1992 - "Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism."
4.	Oral Medicine 07/01/2013 - "Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism."
5.	Skin Transplantation (Skin Grafting) 10/01/1989 - "The grafted skin obtained from patients with tyrosinase-negative albinism showed persistence of the depigmentation after skin transplantation. "