Details of Disease

General Information of Disease (ID: DISJS7CU)

• Disease Name: Oculocutaneous albinism
• Synonyms: albinism, oculocutaneous; non-syndromic oculocutaneous albinism; nonsyndromic oculocutaneous albinism; OCA
• Definition: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis 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 and OCA7.
• Disease Hierarchy:
  DIS39YKC: Hypopigmentation of the skin
  DISMCPVS: Disorder of melanin metabolism
  DISSCALK: Hereditary skin disorder
  DISJS7CU: Oculocutaneous albinism
• Disease Identifiers:
  MONDO ID: MONDO_0018910
  MESH ID: D016115
  UMLS CUI: C0078918
  MedGen ID: 36250
  Orphanet ID: 55
  SNOMED CT ID: 63844009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRA5	TTNZPQ1	Limited	Biomarker	[1]
MC1R	TT0MV2T	Disputed	Genetic Variation	[2]
TFF1	TTNOJIZ	Strong	Genetic Variation	[3]
TYRP1	TTFRV98	Strong	Genetic Variation	[4]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A4	DTQWF14	Strong	Genetic Variation	[5]
SLC24A5	DTAWCS9	Strong	Genetic Variation	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Biomarker	[7]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MITF	OT6XJCZH	Limited	Genetic Variation	[2]
NR2F2	OTJFS67N	Limited	Genetic Variation	[8]
HPS4	OTBTW01J	Disputed	Genetic Variation	[9]
HPS6	OTXL5KQW	Disputed	Genetic Variation	[10]
AP3B1	OTYTIH5Q	Strong	Genetic Variation	[3]
AP3D1	OTJLI0IM	Strong	Biomarker	[11]
CRYBG1	OTIPDI15	Strong	Genetic Variation	[12]
DTNBP1	OT9UQT2S	Strong	Biomarker	[13]
FGL1	OTT0QHQ1	Strong	Biomarker	[14]
GPR143	OTWUA2AV	Strong	Biomarker	[15]
HERC2	OTNQYKOB	Strong	Biomarker	[16]
LYST	OTIUB1B3	Strong	Genetic Variation	[17]
RAB38	OTU0NZU0	Strong	Biomarker	[18]

References

• [1] Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1.
• [2] Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.Oncotarget. 2017 May 2;8(18):29751-29759. doi: 10.18632/oncotarget.12777.
• [3] Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.J Dermatol. 2020 Feb;47(2):185-189. doi: 10.1111/1346-8138.15177. Epub 2019 Dec 9.
• [4] Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4945-4952. doi: 10.1167/iovs.16-20293.
• [5] A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.J Biol Chem. 2016 Jun 17;291(25):13113-23. doi: 10.1074/jbc.M116.728824. Epub 2016 Apr 25.
• [6] Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.J Dermatol. 2019 Nov;46(11):1027-1030. doi: 10.1111/1346-8138.15065. Epub 2019 Sep 4.
• [7] Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16.
• [8] Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-->qter.Eur J Med Genet. 2007 Nov-Dec;50(6):432-40. doi: 10.1016/j.ejmg.2007.08.003. Epub 2007 Sep 9.
• [9] A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.Medicine (Baltimore). 2019 Aug;98(33):e16899. doi: 10.1097/MD.0000000000016899.
• [10] Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4.
• [11] Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22.
• [12] Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311.
• [13] Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.
• [14] Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.
• [15] In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.Cell Biochem Biophys. 2014 Dec;70(3):1923-32. doi: 10.1007/s12013-014-0152-9.
• [16] Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.Br J Dermatol. 2017 Oct;177(4):1066-1073. doi: 10.1111/bjd.15618. Epub 2017 Sep 8.
• [17] Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.J Genet Genomics. 2015 Jun 20;42(6):279-86. doi: 10.1016/j.jgg.2015.05.001. Epub 2015 May 29.
• [18] Analysis of ocular hypopigmentation in Rab38cht/cht mice.Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13. doi: 10.1167/iovs.06-1464.