Details of Disease

General Information of Disease (ID: DIS5D82I)

Disease Name Albinism
Synonyms albinism
Disease Class EC23: Skin pigmentation genetic disorder
Definition A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.|This groups multiple types, including those restricted to the eyes, the skin or both
Disease Hierarchy
DISFWXCM: Inborn disorder of amino acid metabolism
DIS5D82I: Albinism
ICD Code
ICD-11
ICD-11: EC23.2
ICD-10
ICD-10: E70.3, H90.3
Disease Identifiers
MONDO ID
MONDO_0043209
MESH ID
D000417
UMLS CUI
C0001916
MedGen ID
182
HPO ID
HP:0001022
SNOMED CT ID
15890002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 134 Patented Agent(s)
Drug Name Drug ID Highest Status Drug Type REF
3-(phenoxymethyl) benzylamine derivative 1 DM9YJWU Patented Small molecular drug [1]
3-(phenoxymethyl) benzylamine derivative 2 DMGN9IX Patented Small molecular drug [1]
3-(phenoxymethyl) benzylamine derivative 3 DM43EKN Patented Small molecular drug [1]
3-(phenoxymethyl) benzylamine derivative 4 DM58X6N Patented Small molecular drug [1]
3-(phenoxymethyl) benzylamine derivative 5 DM84HG2 Patented Small molecular drug [1]
3-(phenoxymethyl) benzylamine derivative 6 DM0WBM3 Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 1 DMJ8X7A Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 2 DMYH4D1 Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 3 DML63B7 Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 4 DMKE5PB Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 5 DM4AM1E Patented Small molecular drug [1]
Aromatic hydrazine carboxyimidoamide derivative 6 DM8HDQT Patented Small molecular drug [1]
Benzimidazole derivative 3 DMY93WG Patented Small molecular drug [1]
Benzimidazole derivative 4 DM9PL3F Patented Small molecular drug [1]
Benzoic acid linked peptide analog 1 DMND8R0 Patented Peptide [1]
Benzoic acid linked peptide analog 2 DMUBG20 Patented Peptide [1]
Benzoic acid linked peptide analog 3 DM42BU9 Patented Peptide [1]
Benzoic acid linked peptide analog 4 DMNX5EU Patented Peptide [1]
Benzoic acid linked peptide analog 5 DMNIZAR Patented Peptide [1]
Benzoic acid linked peptide analog 6 DMTHKES Patented Peptide [1]
Benzothiazole analog 1 DMHXFCQ Patented Small molecular drug [1]
Benzothiazole analog 2 DMUKNXF Patented Small molecular drug [1]
Benzothiazole analog 3 DMDLY38 Patented Small molecular drug [1]
Benzothiazole analog 4 DMNDAT0 Patented Small molecular drug [1]
Benzothiazole analog 5 DMN1J09 Patented Small molecular drug [1]
Benzothiazoline derivative 1 DMJDC5T Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 1 DM79WI1 Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 10 DMRXMCH Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 11 DMVPR1D Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 12 DMOHBCN Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 13 DMKDBQG Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 14 DMWUAXM Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 2 DMAEQ0I Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 3 DMGV8T9 Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 4 DMNQF9S Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 5 DMBC48K Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 6 DMK9XV8 Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 7 DMES41R Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 8 DMRIPVG Patented Small molecular drug [1]
Beta-phenyl-alpha,beta-unsaturated carbonyl derivative 9 DM7U20W Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 1 DMORFPT Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 2 DM6VPIR Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 3 DMVIZTY Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 4 DMLD49W Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 5 DMS68DP Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 6 DMSD2TN Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 7 DM2URPE Patented Small molecular drug [1]
Cyclohexyl carbamate derivative 8 DMB9DEO Patented Small molecular drug [1]
Diamine derivative 1 DMUG69Q Patented Small molecular drug [1]
Diamine derivative 2 DMQEYTJ Patented Small molecular drug [1]
Diamine derivative 3 DMSYX4U Patented Small molecular drug [1]
Dihydroxyfumaric acid derivative 1 DMAH1EP Patented Small molecular drug [1]
Monoamine derivative 1 DMRWNAY Patented Small molecular drug [1]
Monoamine derivative 2 DMAZ6DI Patented Small molecular drug [1]
Monoamine derivative 3 DM4I75L Patented Small molecular drug [1]
Monoamine derivative 4 DMYFKP2 Patented Small molecular drug [1]
Monoamine derivative 5 DM3PF60 Patented Small molecular drug [1]
Nicotinyl hydroxamic acid derivative 1 DMW2LD5 Patented Small molecular drug [1]
P-coumaric acid derivative 1 DM231WS Patented Small molecular drug [1]
P-coumaric acid derivative 2 DMFTZBY Patented Small molecular drug [1]
P-coumaric acid derivative 3 DMFE4IY Patented Small molecular drug [1]
P-coumaric acid derivative 4 DM5WQP3 Patented Small molecular drug [1]
P-coumaric acid derivative 5 DMFKGZ7 Patented Small molecular drug [1]
P-coumaric acid derivative 6 DMF4YGC Patented Small molecular drug [1]
PMID26815044-Compound-114 DMOJ936 Patented Small molecular drug [1]
PMID26815044-Compound-115 DM8SWHO Patented Small molecular drug [1]
PMID26815044-Compound-116 DMDUXRT Patented Small molecular drug [1]
PMID26815044-Compound-117 DM2GON6 Patented Small molecular drug [1]
PMID26815044-Compound-118 DMC28VB Patented Small molecular drug [1]
PMID26815044-Compound-121 DMMNXA1 Patented Small molecular drug [1]
PMID26815044-Compound-122 DM1HAGJ Patented Small molecular drug [1]
PMID26815044-Compound-123 DMFTE3Y Patented Small molecular drug [1]
PMID26815044-Compound-124 DM25WGP Patented Small molecular drug [1]
PMID26815044-Compound-125 DM6EFIN Patented Small molecular drug [1]
PMID26815044-Compound-126 DMMJK0L Patented Small molecular drug [1]
PMID26815044-Compound-127 DMO97LR Patented Small molecular drug [1]
PMID26815044-Compound-30 DMH8E7S Patented Small molecular drug [1]
PMID26815044-Compound-31 DMBINQ9 Patented Small molecular drug [1]
PMID26815044-Compound-32 DMN5H3C Patented Small molecular drug [1]
PMID26815044-Compound-47 DMM3FJO Patented Small molecular drug [1]
PMID26815044-Compound-48 DMJ1Z7U Patented Small molecular drug [1]
PMID26815044-Compound-49 DMD9WRS Patented Small molecular drug [1]
PMID26815044-Compound-50 DMYI1SX Patented Small molecular drug [1]
PMID26815044-Compound-51 DMQGTJ5 Patented Small molecular drug [1]
PMID26815044-Compound-52 DMN4C2O Patented Small molecular drug [1]
PMID26815044-Compound-64 DMEKBOG Patented Small molecular drug [1]
PMID26815044-Compound-93 DMV46DG Patented Small molecular drug [1]
PMID26815044-Compound-H DMI3QLT Patented Small molecular drug [1]
PMID26815044-Compound-I DMZISDR Patented Small molecular drug [1]
Polyhydroxy benzamide derivative 1 DMPHCJ5 Patented Small molecular drug [1]
Polyhydroxy benzamide derivative 2 DM0BRNU Patented Small molecular drug [1]
Polyhydroxy benzamide derivative 3 DMCLZWS Patented Small molecular drug [1]
Polyhydroxy benzamide derivative 4 DM6QBV2 Patented Small molecular drug [1]
Polyhydroxy benzamide derivative 5 DMZC6AI Patented Small molecular drug [1]
Resorcinol compound 1 DMG4FYP Patented Small molecular drug [1]
Resorcinol compound 10 DMPA26U Patented Small molecular drug [1]
Resorcinol compound 11 DMGDLPZ Patented Small molecular drug [1]
Resorcinol compound 12 DMEMT3I Patented Small molecular drug [1]
Resorcinol compound 13 DMVARUE Patented Small molecular drug [1]
Resorcinol compound 14 DM6XFA5 Patented Small molecular drug [1]
Resorcinol compound 15 DMSLYVT Patented Small molecular drug [1]
Resorcinol compound 16 DMFDXBJ Patented Small molecular drug [1]
Resorcinol compound 17 DMFR4S0 Patented Small molecular drug [1]
Resorcinol compound 18 DM64R2K Patented Small molecular drug [1]
Resorcinol compound 19 DMJIZPQ Patented Small molecular drug [1]
Resorcinol compound 2 DMGDQYW Patented Small molecular drug [1]
Resorcinol compound 20 DME4OGJ Patented Small molecular drug [1]
Resorcinol compound 21 DM8EQPJ Patented Small molecular drug [1]
Resorcinol compound 22 DMSW3GB Patented Small molecular drug [1]
Resorcinol compound 23 DMU3APC Patented Small molecular drug [1]
Resorcinol compound 24 DM2IKDL Patented Small molecular drug [1]
Resorcinol compound 25 DMEZUN7 Patented Small molecular drug [1]
Resorcinol compound 26 DMT21JG Patented Small molecular drug [1]
Resorcinol compound 27 DM71R3T Patented Small molecular drug [1]
Resorcinol compound 28 DMCHLAN Patented Small molecular drug [1]
Resorcinol compound 29 DML7ONU Patented Small molecular drug [1]
Resorcinol compound 3 DMPTK0G Patented Small molecular drug [1]
Resorcinol compound 30 DMMTVN4 Patented Small molecular drug [1]
Resorcinol compound 31 DMSPCLD Patented Small molecular drug [1]
Resorcinol compound 32 DM2RPYB Patented Small molecular drug [1]
Resorcinol compound 33 DMLJYS1 Patented Small molecular drug [1]
Resorcinol compound 34 DMQF90E Patented Small molecular drug [1]
Resorcinol compound 4 DMIM9EY Patented Small molecular drug [1]
Resorcinol compound 5 DMQ5TYK Patented Small molecular drug [1]
Resorcinol compound 6 DM809YH Patented Small molecular drug [1]
Resorcinol compound 7 DM031RU Patented Small molecular drug [1]
Resorcinol compound 8 DMLF53V Patented Small molecular drug [1]
Resorcinol compound 9 DMCJO0R Patented Small molecular drug [1]
Thiazole derivative 1 DM2WDXV Patented Small molecular drug [1]
Thiazolidine derivative 1 DM05VO6 Patented Small molecular drug [1]
Thiazolidine derivative 2 DM73GNJ Patented Small molecular drug [1]
Thiazolidine derivative 3 DMXFGTZ Patented Small molecular drug [1]
Thiazoline derivative 1 DM86HU3 Patented Small molecular drug [1]
Thiazoline derivative 2 DMXRE1V Patented Small molecular drug [1]
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⏷ Show the Full List of 134 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IDS TTNY2AP Strong Genetic Variation [2]
TYRP1 TTFRV98 Strong Biomarker [3]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC45A2 DTNCJAT moderate Biomarker [4]
SLC38A8 DT0UQDA Strong Genetic Variation [5]
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This Disease Is Related to 17 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP3D1 OTJLI0IM Limited Biomarker [6]
LRMDA OTIPNKTU moderate Genetic Variation [7]
AP3B1 OTYTIH5Q Strong Genetic Variation [8]
BLOC1S6 OT96NE03 Strong Biomarker [9]
DCT OTYVNTBG Strong Genetic Variation [10]
FGL1 OTT0QHQ1 Strong Genetic Variation [8]
FRMD7 OTJ11849 Strong Biomarker [11]
GPR143 OTWUA2AV Strong Biomarker [3]
HPS1 OTKS5I7T Strong Genetic Variation [8]
HPS3 OTAKROK7 Strong Genetic Variation [8]
HPS4 OTBTW01J Strong Genetic Variation [12]
HPS5 OTLO2374 Strong Genetic Variation [13]
LYST OTIUB1B3 Strong Biomarker [14]
MITF OT6XJCZH Strong Genetic Variation [15]
OCA2 OTDWIGBF Strong Genetic Variation [16]
RAB27A OT9SQRWY Strong Genetic Variation [17]
TCOF1 OT4BOYTM Strong Biomarker [18]
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⏷ Show the Full List of 17 DOT(s)

References

1 Tyrosinase inhibitors: a patent review (2011-2015).Expert Opin Ther Pat. 2016;26(3):347-62.
2 Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.Prenat Diagn. 2011 Sep;31(9):853-60. doi: 10.1002/pd.2786. Epub 2011 Jun 27.
3 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.
4 Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.Genet Sel Evol. 2017 Oct 5;49(1):73. doi: 10.1186/s12711-017-0349-7.
5 Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27.
6 Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
7 Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013 Mar 7;92(3):415-21. doi: 10.1016/j.ajhg.2013.01.006. Epub 2013 Feb 7.
8 Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).Ophthalmic Genet. 2016;37(1):89-94. doi: 10.3109/13816810.2014.907920. Epub 2014 Apr 28.
9 A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009.
10 White mutants in mice shedding light on humans.J Invest Dermatol. 1993 Feb;100(2 Suppl):176S-185S.
11 Aetiology of infantile nystagmus.Curr Opin Neurol. 2014 Feb;27(1):83-91. doi: 10.1097/WCO.0000000000000058.
12 A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish.Mol Genet Genomics. 2017 Jun;292(3):663-670. doi: 10.1007/s00438-017-1302-8. Epub 2017 Mar 13.
13 Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.Pigment Cell Melanoma Res. 2017 Jan;30(6):563-570. doi: 10.1111/pcmr.12608. Epub 2017 Oct 20.
14 [Clinical aspects of hereditary spastic paraplegias].Rinsho Shinkeigaku. 2014;54(12):1012-5. doi: 10.5692/clinicalneurol.54.1012.
15 The transcription factor MITF in RPE function and dysfunction.Prog Retin Eye Res. 2019 Nov;73:100766. doi: 10.1016/j.preteyeres.2019.06.002. Epub 2019 Jun 23.
16 A cross-sectional examination of visual acuity by specific type of albinism.J AAPOS. 2016 Oct;20(5):419-424. doi: 10.1016/j.jaapos.2016.06.006. Epub 2016 Sep 16.
17 Advances in clinical immunology in 2015.J Allergy Clin Immunol. 2016 Dec;138(6):1531-1540. doi: 10.1016/j.jaci.2016.10.005.
18 Teratogenicity and accumulation of triclosan in the early life stages of four food fish during the bioassay.Ecotoxicol Environ Saf. 2019 Jul 30;176:346-354. doi: 10.1016/j.ecoenv.2019.03.102. Epub 2019 Apr 4.